IFNAR2 — 314 ClinVar variants
All ClinVar germline IFNAR2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 139 flagged for review →
7 Pathogenic · 2 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 12 Conflicting · 13 Benign · 6 Benign/Likely benign · 127 Likely benign · 145 Uncertain significance
Full IFNAR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 139
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 8
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- IFNAR2 p.Asp369Glu Conflicting Single submitter
-
IFNAR2 p.Gly115Arg
Conflicting
Single submitter
immunodeficiency 45
- IFNAR2 p.His283Arg Conflicting Single submitter
- IFNAR2 p.Ile43Leu Conflicting Single submitter
- IFNAR2 p.Ser392Arg Conflicting Single submitter
-
IFNAR2 p.Ser53Pro
Conflicting
Single submitter
IFNAR2-related disorders
- IFNAR2 p.Thr379Met Conflicting Single submitter
-
IFNAR2 p.Val169Ile
Conflicting
Single submitter
hepatitis B virus, susceptibility to
Predictors lean, ClinVar uncertain 118
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- IFNAR2 p.Arg397Gly Uncertain significance Multiple submitters
- IFNAR2 p.Arg90Gly Uncertain significance Multiple submitters
- IFNAR2 p.Asn146Ser Uncertain significance Multiple submitters
- IFNAR2 p.Asn281Tyr Uncertain significance Multiple submitters
- IFNAR2 p.Asp198Gly Uncertain significance Multiple submitters
- IFNAR2 p.Asp437Gly Uncertain significance Multiple submitters
- IFNAR2 p.Glu184Lys Uncertain significance Multiple submitters
-
IFNAR2 p.Glu356Gly
Uncertain significance
Multiple submitters
immunodeficiency 45
- IFNAR2 p.Glu37Gln Uncertain significance Multiple submitters
- IFNAR2 p.Gly334Ser Uncertain significance Multiple submitters
- IFNAR2 p.Gly393Glu Uncertain significance Multiple submitters
- IFNAR2 p.Gly474Arg Uncertain significance Multiple submitters
- IFNAR2 p.His452Tyr Uncertain significance Multiple submitters
- IFNAR2 p.Ile148Val Uncertain significance Multiple submitters
- IFNAR2 p.Ile9Met Uncertain significance Multiple submitters
- IFNAR2 p.Leu15Trp Uncertain significance Multiple submitters
- IFNAR2 p.Leu166Phe Uncertain significance Multiple submitters
- IFNAR2 p.Leu471Met Uncertain significance Multiple submitters
- IFNAR2 p.Lys199Arg Uncertain significance Multiple submitters
- IFNAR2 p.Pro232Leu Uncertain significance Multiple submitters
- IFNAR2 p.Pro362Leu Uncertain significance Multiple submitters
- IFNAR2 p.Pro446Ser Uncertain significance Multiple submitters
- IFNAR2 p.Pro484Ser Uncertain significance Multiple submitters
- IFNAR2 p.Ser22Ile Uncertain significance Multiple submitters
- IFNAR2 p.Ser238Pro Uncertain significance Multiple submitters
- IFNAR2 p.Ser324Asn Uncertain significance Multiple submitters
- IFNAR2 p.Trp490Arg Uncertain significance Multiple submitters
- IFNAR2 p.Val24Met Uncertain significance Multiple submitters
- IFNAR2 p.Ala219Thr Uncertain significance Single submitter
- IFNAR2 p.Ala254Thr Uncertain significance Single submitter
- IFNAR2 p.Ala298Thr Uncertain significance Single submitter
- IFNAR2 p.Ala328Pro Uncertain significance Single submitter
- IFNAR2 p.Ala352Thr Uncertain significance Single submitter
- IFNAR2 p.Arg11Ser Uncertain significance Single submitter
- IFNAR2 p.Arg11Thr Uncertain significance Single submitter
- IFNAR2 p.Arg398Gly Uncertain significance Single submitter
- IFNAR2 p.Arg398Lys Uncertain significance Single submitter
- IFNAR2 p.Arg49Gln Uncertain significance Single submitter
- IFNAR2 p.Asn116Ser Uncertain significance Single submitter
- IFNAR2 p.Asn149Ser Uncertain significance Single submitter
- IFNAR2 p.Asn274Ser Uncertain significance Single submitter
- IFNAR2 p.Asp131Glu Uncertain significance Single submitter
- IFNAR2 p.Asp30Glu Uncertain significance Single submitter
- IFNAR2 p.Asp319Val Uncertain significance Single submitter
- IFNAR2 p.Asp325Asn Uncertain significance Single submitter
- IFNAR2 p.Asp361His Uncertain significance Single submitter
- IFNAR2 p.Asp374His Uncertain significance Single submitter
- IFNAR2 p.Asp410Asn Uncertain significance Single submitter
- IFNAR2 p.Asp436Gly Uncertain significance Single submitter
- IFNAR2 p.Asp442Asn Uncertain significance Single submitter
- IFNAR2 p.Asp458Asn Uncertain significance Single submitter
- IFNAR2 p.Asp497Asn Uncertain significance Single submitter
- IFNAR2 p.Gln5Arg Uncertain significance Single submitter
- IFNAR2 p.Glu104Asp Uncertain significance Single submitter
- IFNAR2 p.Glu240Asp Uncertain significance Single submitter
- IFNAR2 p.Glu365Lys Uncertain significance Single submitter
- IFNAR2 p.Glu366Ala Uncertain significance Single submitter
- IFNAR2 p.Glu408Lys Uncertain significance Single submitter
- IFNAR2 p.Glu438Lys Uncertain significance Single submitter
- IFNAR2 p.Glu475Asp Uncertain significance Single submitter
- IFNAR2 p.Gly176Arg Uncertain significance Single submitter
- IFNAR2 p.Gly187Ala Uncertain significance Single submitter
- IFNAR2 p.His103Gln Uncertain significance Single submitter
- IFNAR2 p.His214Arg Uncertain significance Single submitter
- IFNAR2 p.His59Tyr Uncertain significance Single submitter
- IFNAR2 p.His65Pro Uncertain significance Single submitter
- IFNAR2 p.Ile130Thr Uncertain significance Single submitter
- IFNAR2 p.Ile253Thr Uncertain significance Single submitter
- IFNAR2 p.Ile261Thr Uncertain significance Single submitter
- IFNAR2 p.Ile72Val Uncertain significance Single submitter
- IFNAR2 p.Leu13Phe Uncertain significance Single submitter
- IFNAR2 p.Leu230Phe Uncertain significance Single submitter
- IFNAR2 p.Leu391Ser Uncertain significance Single submitter
- IFNAR2 p.Lys243Arg Uncertain significance Single submitter
- IFNAR2 p.Lys382Arg Uncertain significance Single submitter
- IFNAR2 p.Lys42Glu Uncertain significance Single submitter
- IFNAR2 p.Met132Ile Uncertain significance Single submitter
- IFNAR2 p.Met18Thr Uncertain significance Single submitter
- IFNAR2 p.Met339Ile Uncertain significance Single submitter
- IFNAR2 p.Met339Val Uncertain significance Single submitter
- IFNAR2 p.Phe285Leu Uncertain significance Single submitter
- IFNAR2 p.Phe481Ile Uncertain significance Single submitter
- IFNAR2 p.Pro224His Uncertain significance Single submitter
- IFNAR2 p.Pro295Leu Uncertain significance Single submitter
- IFNAR2 p.Pro346Ser Uncertain significance Single submitter
- IFNAR2 p.Pro362Ala Uncertain significance Single submitter
- IFNAR2 p.Pro362Ser Uncertain significance Single submitter
- IFNAR2 p.Pro385Leu Uncertain significance Single submitter
- IFNAR2 p.Pro482His Uncertain significance Single submitter
- IFNAR2 p.Pro482Ser Uncertain significance Single submitter
- IFNAR2 p.Pro484Leu Uncertain significance Single submitter
- IFNAR2 p.Ser215Gly Uncertain significance Single submitter
- IFNAR2 p.Ser236Ala Uncertain significance Single submitter
- IFNAR2 p.Ser275Cys Uncertain significance Single submitter
- IFNAR2 p.Ser31Trp Uncertain significance Single submitter
- IFNAR2 p.Ser364Cys Uncertain significance Single submitter
- IFNAR2 p.Ser412Arg Uncertain significance Single submitter
- IFNAR2 p.Ser412Gly Uncertain significance Single submitter
- IFNAR2 p.Ser440Gly Uncertain significance Single submitter
- IFNAR2 p.Thr118Met Uncertain significance Single submitter
- IFNAR2 p.Thr194Ile Uncertain significance Single submitter
- IFNAR2 p.Thr338Ala Uncertain significance Single submitter
- IFNAR2 p.Thr414Met Uncertain significance Single submitter
- IFNAR2 p.Thr414Ser Uncertain significance Single submitter
- IFNAR2 p.Thr67Ile Uncertain significance Single submitter
- IFNAR2 p.Thr88Ile Uncertain significance Single submitter
- IFNAR2 p.Tyr106Phe Uncertain significance Single submitter
- IFNAR2 p.Tyr20Cys Uncertain significance Single submitter
- IFNAR2 p.Tyr269Cys Uncertain significance Single submitter
- IFNAR2 p.Tyr306His Uncertain significance Single submitter
- IFNAR2 p.Tyr34Cys Uncertain significance Single submitter
- IFNAR2 p.Tyr66Cys Uncertain significance Single submitter
- IFNAR2 p.Val109Ile Uncertain significance Single submitter
- IFNAR2 p.Val142Ile Uncertain significance Single submitter
- IFNAR2 p.Val304Phe Uncertain significance Single submitter
- IFNAR2 p.Val313Leu Uncertain significance Single submitter
- IFNAR2 p.Val375Met Uncertain significance Single submitter
-
IFNAR2 p.Phe10Ile
Uncertain significance
No assertion criteria
Associated with severe COVID-19 disease
Predictors split 13
The independent predictors disagree with each other — read with care.
- IFNAR2 p.Leu432Ser Uncertain significance Multiple submitters
- IFNAR2 p.Pro136Ser Uncertain significance Multiple submitters
- IFNAR2 p.Asn87Asp Uncertain significance Single submitter
- IFNAR2 p.Glu104Lys Uncertain significance Single submitter
- IFNAR2 p.Gly245Arg Conflicting Single submitter
- IFNAR2 p.Gly268Ala Uncertain significance Single submitter
- IFNAR2 p.Ile43Thr Uncertain significance Single submitter
- IFNAR2 p.Leu168Arg Uncertain significance Single submitter
- IFNAR2 p.Leu427Phe Uncertain significance Single submitter
- IFNAR2 p.Pro136Leu Uncertain significance Single submitter
- IFNAR2 p.Ser429Phe Uncertain significance Single submitter
- IFNAR2 p.Thr67Ala Uncertain significance Single submitter
- IFNAR2 p.Tyr195Cys Uncertain significance Single submitter
All IFNAR2 variants
Pathogenic 7
- p.Ile185fs Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Arg46Ter Single submitter
- p.Cys39Ter Single submitter
- p.Leu168fs Single submitter
- p.Met132fs Single submitter
- p.Ser209fs Single submitter
- p.Ser44Ter Single submitter
Pathogenic/Likely pathogenic 2
- p.Asp78_Leu79insTer Multiple submitters IFNAR2-related disorders
- p.Glu104fs Multiple submitters IFNAR2-related disorders
Likely pathogenic 2
- c.221+2T>C Single submitter
- p.Ser53del Single submitter immunodeficiency 45
Conflicting classifications of pathogenicity 12
- c.395-1G>A Single submitter
- c.56-1G>A Single submitter
- c.841-85A>G Single submitter
- p.Asp369Glu Single submitter ⚠
- p.Gly115Arg Single submitter immunodeficiency 45 ⚠
- p.Gly245Arg Single submitter ⚠
- p.His283Arg Single submitter ⚠
- p.Ile43Leu Single submitter ⚠
- p.Ser392Arg Single submitter ⚠
- p.Ser53Pro Single submitter IFNAR2-related disorders ⚠
- p.Thr379Met Single submitter ⚠
- p.Val169Ile Single submitter hepatitis B virus, susceptibility to ⚠
Benign 13
- c.541-50A>G Multiple submitters immunodeficiency 45
- c.841-220G>A Multiple submitters
- p.Pro155= Multiple submitters
- p.Ser364= Multiple submitters
- p.Thr204Arg Multiple submitters
- c.710-9C>A Single submitter
- c.840+15dup Single submitter
- c.840+20del Single submitter
- c.841-290C>T Single submitter
- c.841-33C>T Single submitter
- c.841-44dup Single submitter
- c.98-43T>C Single submitter
- p.Pro362= Single submitter
Benign/Likely benign 6
- p.Arg515Lys Multiple submitters
- p.Cys271Tyr Multiple submitters
- p.Phe10Val Multiple submitters immunodeficiency 45
- p.Phe8Ser Multiple submitters immunodeficiency 45
- p.Ser384= Multiple submitters
- p.Tyr306= Multiple submitters
Likely benign 127
- p.Asp369= Multiple submitters
- p.Asp374= Multiple submitters
- p.Gln173His Multiple submitters
- p.Gln387= Multiple submitters
- p.Gln466= Multiple submitters
- p.Ile197= Multiple submitters
- p.Leu168= Multiple submitters
- p.Leu56= Multiple submitters
- p.Leu69= Multiple submitters
- p.Pro183= Multiple submitters
- p.Ser12= Multiple submitters
- p.Ser223= Multiple submitters
- p.Ser31Leu Multiple submitters
- p.Ser324= Multiple submitters
- p.Ser450= Multiple submitters
- p.Ser473= Multiple submitters
- p.Ser491= Multiple submitters
- p.Thr258= Multiple submitters
- p.Thr338= Multiple submitters
- p.Thr414= Multiple submitters
- c.221+20T>G Single submitter
- c.222-18A>G Single submitter
- c.394+12C>T Single submitter
- c.394+20C>T Single submitter
- c.395-17T>C Single submitter
- c.395-6G>T Single submitter
- c.395-7dup Single submitter
- c.540+12C>T Single submitter
- c.541-9T>C Single submitter
- c.55+10G>A Single submitter
- c.55+10G>C Single submitter
- c.55+11C>T Single submitter
- c.55+17A>G Single submitter
- c.55+17A>T Single submitter
- c.55+18T>C Single submitter
- c.55+19C>T Single submitter
- c.709+11T>C Single submitter
- c.709+16T>C Single submitter
- c.840+12TTTTG[2] Single submitter
- c.840+12TTTTG[4] Single submitter
- c.840+15T>G Single submitter
- c.840+21_840+30del Single submitter
- c.841-103C>G Single submitter
- c.841-10T>C Single submitter
- c.841-141C>T Single submitter
- c.841-163G>A Single submitter
- c.841-16T>C Single submitter
- c.841-17T>C Single submitter
- c.841-18_841-17insC Single submitter
- c.841-18_841-17insCTT Single submitter
- c.841-19_841-16del Single submitter
- c.841-19_841-17del Single submitter
- c.841-21_841-17del Single submitter
- c.841-4dup Single submitter
- c.841-4T>A Single submitter
- c.841-5_841-4del Single submitter
- c.841-5_841-4dup Single submitter
- c.97+11T>G Single submitter
- c.97+19C>T Single submitter
- c.97+9T>C Single submitter
- c.98-11C>A Single submitter
- c.98-18T>C Single submitter
- c.98-20C>T Single submitter
- c.98-7T>A Single submitter
- p.Ala254= Single submitter
- p.Ala329= Single submitter
- p.Ala445= Single submitter
- p.Asn192= Single submitter
- p.Asn203= Single submitter
- p.Asn274= Single submitter
- p.Asp319= Single submitter
- p.Asp437= Single submitter
- p.Cys207= Single submitter
- p.Gln358= Single submitter
- p.Gln386= Single submitter
- p.Glu104= Single submitter
- p.Glu111= Single submitter
- p.Glu138= Single submitter
- p.Glu175= Single submitter
- p.Glu389= Single submitter
- p.Glu492Lys Single submitter
- p.Gly26= Single submitter
- p.Gly336= Single submitter
- p.Gly341= Single submitter
- p.Gly393= Single submitter
- p.Gly418= Single submitter
- p.Gly474= Single submitter
- p.Gly488= Single submitter
- p.Gly509= Single submitter
- p.Gly511= Single submitter
- p.Ile307= Single submitter
- p.Ile61= Single submitter
- p.Leu13= Single submitter
- p.Leu166= Single submitter
- p.Leu23= Single submitter
- p.Leu272= Single submitter
- p.Leu280= Single submitter
- p.Leu449= Single submitter
- p.Leu68= Single submitter
- p.Lys382= Single submitter
- p.Lys80= Single submitter
- p.Phe134= Single submitter
- p.Pro295= Single submitter
- p.Pro330= Single submitter
- p.Pro407= Single submitter
- p.Pro459= Single submitter
- p.Pro76= Single submitter
- p.Ser101= Single submitter
- p.Ser114= Single submitter
- p.Ser123= Single submitter
- p.Ser22= Single submitter
- p.Ser31= Single submitter
- p.Ser412= Single submitter
- p.Ser44= Single submitter
- p.Ser502= Single submitter
- p.Ter516= Single submitter
- p.Thr118= Single submitter
- p.Thr204= Single submitter
- p.Thr228= Single submitter
- p.Thr249= Single submitter
- p.Thr480= Single submitter
- p.Tyr269= Single submitter
- p.Tyr29= Single submitter
- p.Tyr318= Single submitter
- p.Tyr34= Single submitter
- p.Val279= Single submitter
- p.Asp320= No assertion criteria IFNAR2-related disorder
Uncertain significance 145
- c.840+1G>T Multiple submitters immunodeficiency 45
- p.Arg397Gly Multiple submitters ⚠
- p.Arg90Gly Multiple submitters ⚠
- p.Asn146Ser Multiple submitters ⚠
- p.Asn281Tyr Multiple submitters ⚠
- p.Asp198Gly Multiple submitters ⚠
- p.Asp437Gly Multiple submitters ⚠
- p.Glu184Lys Multiple submitters ⚠
- p.Glu356Gly Multiple submitters immunodeficiency 45 ⚠
- p.Glu37Gln Multiple submitters ⚠
- p.Gly334Ser Multiple submitters ⚠
- p.Gly393Glu Multiple submitters ⚠
- p.Gly474Arg Multiple submitters ⚠
- p.His452Tyr Multiple submitters ⚠
- p.Ile148Val Multiple submitters ⚠
- p.Ile9Met Multiple submitters ⚠
- p.Leu15Trp Multiple submitters ⚠
- p.Leu166Phe Multiple submitters ⚠
- p.Leu432Ser Multiple submitters ⚠
- p.Leu471Met Multiple submitters ⚠
- p.Lys199Arg Multiple submitters ⚠
- p.Phe41Ser Multiple submitters
- p.Pro136Ser Multiple submitters ⚠
- p.Pro232Leu Multiple submitters ⚠
- p.Pro362Leu Multiple submitters ⚠
- p.Pro446Ser Multiple submitters ⚠
- p.Pro484Ser Multiple submitters ⚠
- p.Ser22Ile Multiple submitters ⚠
- p.Ser238Pro Multiple submitters ⚠
- p.Ser324Asn Multiple submitters ⚠
- p.Trp490Arg Multiple submitters ⚠
- p.Val24Met Multiple submitters ⚠
- c.221+5G>A Single submitter
- c.541-12T>G Single submitter
- c.709+4T>C Single submitter
- c.709+5G>C Single submitter
- c.710-10T>A Single submitter
- c.710-11T>G Single submitter
- c.841-102G>A Single submitter immunodeficiency 45
- c.841-88C>T Single submitter
- p.Ala219Thr Single submitter ⚠
- p.Ala254Thr Single submitter ⚠
- p.Ala298Thr Single submitter ⚠
- p.Ala328Pro Single submitter ⚠
- p.Ala352Thr Single submitter ⚠
- p.Arg11Ser Single submitter ⚠
- p.Arg11Thr Single submitter ⚠
- p.Arg398Gly Single submitter ⚠
- p.Arg398Lys Single submitter ⚠
- p.Arg49Gln Single submitter ⚠
- p.Asn116Ser Single submitter ⚠
- p.Asn149Ser Single submitter ⚠
- p.Asn274Ser Single submitter ⚠
- p.Asn87Asp Single submitter ⚠
- p.Asp131Glu Single submitter ⚠
- p.Asp30Glu Single submitter ⚠
- p.Asp319Val Single submitter ⚠
- p.Asp325Asn Single submitter ⚠
- p.Asp361His Single submitter ⚠
- p.Asp374His Single submitter ⚠
- p.Asp410Asn Single submitter ⚠
- p.Asp436Gly Single submitter ⚠
- p.Asp437del Single submitter
- p.Asp442Asn Single submitter ⚠
- p.Asp458Asn Single submitter ⚠
- p.Asp497Asn Single submitter ⚠
- p.Gln5Arg Single submitter ⚠
- p.Glu104Asp Single submitter ⚠
- p.Glu104Lys Single submitter ⚠
- p.Glu240Asp Single submitter ⚠
- p.Glu365Lys Single submitter ⚠
- p.Glu366Ala Single submitter ⚠
- p.Glu408Lys Single submitter ⚠
- p.Glu438Lys Single submitter ⚠
- p.Glu475Asp Single submitter ⚠
- p.Gly176Arg Single submitter ⚠
- p.Gly187Ala Single submitter ⚠
- p.Gly268Ala Single submitter ⚠
- p.His103Gln Single submitter ⚠
- p.His214Arg Single submitter ⚠
- p.His59Tyr Single submitter ⚠
- p.His65Pro Single submitter ⚠
- p.Ile130Thr Single submitter ⚠
- p.Ile253Thr Single submitter ⚠
- p.Ile261Thr Single submitter ⚠
- p.Ile43Thr Single submitter ⚠
- p.Ile72Val Single submitter ⚠
- p.Leu13Phe Single submitter ⚠
- p.Leu168Arg Single submitter ⚠
- p.Leu230Phe Single submitter ⚠
- p.Leu280Val Single submitter
- p.Leu391Ser Single submitter ⚠
- p.Leu427Phe Single submitter ⚠
- p.Lys243Arg Single submitter ⚠
- p.Lys310fs Single submitter
- p.Lys382Arg Single submitter ⚠
- p.Lys42Glu Single submitter ⚠
- p.Met132Ile Single submitter ⚠
- p.Met18Thr Single submitter ⚠
- p.Met339Ile Single submitter ⚠
- p.Met339Val Single submitter ⚠
- p.Met73Val Single submitter
- p.Phe285Leu Single submitter ⚠
- p.Phe481Ile Single submitter ⚠
- p.Pro136Leu Single submitter ⚠
- p.Pro224His Single submitter ⚠
- p.Pro295Leu Single submitter ⚠
- p.Pro346Ser Single submitter ⚠
- p.Pro362Ala Single submitter ⚠
- p.Pro362Ser Single submitter ⚠
- p.Pro385Leu Single submitter ⚠
- p.Pro482His Single submitter ⚠
- p.Pro482Ser Single submitter ⚠
- p.Pro484Leu Single submitter ⚠
- p.Ser215Gly Single submitter ⚠
- p.Ser236Ala Single submitter ⚠
- p.Ser275Cys Single submitter ⚠
- p.Ser31Trp Single submitter ⚠
- p.Ser364Cys Single submitter ⚠
- p.Ser412Arg Single submitter ⚠
- p.Ser412Gly Single submitter ⚠
- p.Ser429Phe Single submitter ⚠
- p.Ser440Gly Single submitter ⚠
- p.Thr118Met Single submitter ⚠
- p.Thr194Ile Single submitter ⚠
- p.Thr338Ala Single submitter ⚠
- p.Thr414Met Single submitter ⚠
- p.Thr414Ser Single submitter ⚠
- p.Thr67Ala Single submitter ⚠
- p.Thr67Ile Single submitter ⚠
- p.Thr88Ile Single submitter ⚠
- p.Tyr106Phe Single submitter ⚠
- p.Tyr195Cys Single submitter ⚠
- p.Tyr20Cys Single submitter ⚠
- p.Tyr269Cys Single submitter ⚠
- p.Tyr306His Single submitter ⚠
- p.Tyr34Cys Single submitter ⚠
- p.Tyr66Cys Single submitter ⚠
- p.Val109Ile Single submitter ⚠
- p.Val142Ile Single submitter ⚠
- p.Val304Phe Single submitter ⚠
- p.Val313Leu Single submitter ⚠
- p.Val375Met Single submitter ⚠
- c.98-43T>A No assertion criteria Associated with severe COVID-19 disease
- p.Phe10Ile No assertion criteria Associated with severe COVID-19 disease ⚠