ABCC3 — 213 ClinVar variants

All ClinVar germline ABCC3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 175 flagged for review →

5 Benign · 1 Benign/Likely benign · 29 Likely benign · 178 Uncertain significance

Full ABCC3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 175

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 lean, ClinVar uncertain 126

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 49

The independent predictors disagree with each other — read with care.

All ABCC3 variants

Benign 5

p.Arg923Gln Multiple submitters
p.Arg99Gln Multiple submitters
p.His68Tyr Multiple submitters
c.3579-4A>G Single submitter
p.Val145= Single submitter

Benign/Likely benign 1

p.Leu1336= Multiple submitters

Likely benign 29

p.Ile794= Multiple submitters
p.Leu1352Phe Multiple submitters
c.1636-37T>C Single submitter
c.46-6C>T Single submitter
p.Ala1035Val Single submitter
p.Ala1180Thr Single submitter
p.Ala1214= Single submitter
p.Ala470= Single submitter
p.Arg419His Single submitter ⚠
p.Arg919Gln Single submitter
p.Gln906= Single submitter
p.Glu24Asp Single submitter
p.Glu946Lys Single submitter
p.Gly1198Arg Single submitter
p.Gly282Ser Single submitter
p.His1312Arg Single submitter
p.His925Arg Single submitter
p.Lys1344Glu Single submitter
p.Lys13Asn Single submitter
p.Met1105Val Single submitter
p.Met386Ile Single submitter
p.Met74Thr Single submitter
p.Ser1427= Single submitter
p.Ser622= Single submitter
p.Tyr504= Single submitter
p.Val150Ile Single submitter
p.Val47= Single submitter
p.Val966Met Single submitter
p.Glu264Gly No assertion criteria ⚠

Uncertain significance 178

p.Ala100Asp Single submitter ⚠
p.Ala100Ser Single submitter ⚠
p.Ala102Gly Single submitter ⚠
p.Ala148Val Single submitter ⚠
p.Ala184Val Single submitter ⚠
p.Ala199Ser Single submitter ⚠
p.Ala259Thr Single submitter ⚠
p.Ala272Ser Single submitter ⚠
p.Ala272Thr Single submitter ⚠
p.Ala454Val Single submitter ⚠
p.Ala470Val Single submitter ⚠
p.Ala529Thr Single submitter ⚠
p.Ala529Val Single submitter ⚠
p.Ala837Thr Single submitter ⚠
p.Ala983Val Single submitter ⚠
p.Arg1004Ser Single submitter ⚠
p.Arg1042Cys Single submitter ⚠
p.Arg1067Cys Single submitter ⚠
p.Arg1138Gln Single submitter ⚠
p.Arg1162Gly Single submitter ⚠
p.Arg1278Cys Single submitter ⚠
p.Arg1299Trp Single submitter ⚠
p.Arg1348His Single submitter ⚠
p.Arg1442Cys Single submitter ⚠
p.Arg1442His Single submitter ⚠
p.Arg1469Cys Single submitter ⚠
p.Arg1469Ser Single submitter ⚠
p.Arg1483Trp Single submitter ⚠
p.Arg170His Single submitter ⚠
p.Arg217His Single submitter ⚠
p.Arg526Cys Single submitter ⚠
p.Arg57Gln Single submitter ⚠
p.Arg61His Single submitter ⚠
p.Arg719Gly Single submitter ⚠
p.Arg719His Single submitter ⚠
p.Arg719Leu Single submitter ⚠
p.Arg758Gln Single submitter ⚠
p.Arg919Trp Single submitter ⚠
p.Arg99Gly Single submitter ⚠
p.Asn1092Thr Single submitter ⚠
p.Asn1253Asp Single submitter ⚠
p.Asn1383Ser Single submitter ⚠
p.Asn18Ser Single submitter ⚠
p.Asn25Lys Single submitter ⚠
p.Asn328Ser Single submitter ⚠
p.Asn411Ser Single submitter ⚠
p.Asn428Ser Single submitter ⚠
p.Asn561Ser Single submitter ⚠
p.Asn989Ser Single submitter ⚠
p.Asp1169Asn Single submitter ⚠
p.Asp1361Ala Single submitter ⚠
p.Asp819Glu Single submitter ⚠
p.Asp891Glu Single submitter ⚠
p.Cys1185Arg Single submitter
p.Cys31Gly Single submitter ⚠
p.Cys5Tyr Single submitter ⚠
p.Gln132Pro Single submitter ⚠
p.Gln255Leu Single submitter ⚠
p.Gln330Glu Single submitter ⚠
p.Gln594Arg Single submitter ⚠
p.Gln603Lys Single submitter ⚠
p.Gln945Leu Single submitter ⚠
p.Glu1171Gln Single submitter ⚠
p.Glu1275Gly Single submitter ⚠
p.Glu1288Gln Single submitter ⚠
p.Glu1459Gln Single submitter ⚠
p.Glu246Lys Single submitter ⚠
p.Glu285Gly Single submitter ⚠
p.Glu515Lys Single submitter ⚠
p.Glu725Asp Single submitter ⚠
p.Glu930Lys Single submitter ⚠
p.Gly1037Asp Single submitter ⚠
p.Gly1203Arg Single submitter ⚠
p.Gly1287Trp Single submitter ⚠
p.Gly130Arg Single submitter ⚠
p.Gly1315Ser Single submitter ⚠
p.Gly1345Ser Single submitter ⚠
p.Gly1388Ser Single submitter ⚠
p.Gly1519Arg Single submitter ⚠
p.Gly163Val Single submitter ⚠
p.Gly449Arg Single submitter ⚠
p.Gly467Arg Single submitter ⚠
p.Gly689Asp Single submitter ⚠
p.Gly798Ala Single submitter ⚠
p.Gly798Val Single submitter ⚠
p.Gly811Asp Single submitter
p.Gly843Ser Single submitter ⚠
p.Gly870Val Single submitter ⚠
p.Gly916Glu Single submitter ⚠
p.Gly94Asp Single submitter ⚠
p.Gly987Glu Single submitter ⚠
p.His1045Arg Single submitter ⚠
p.His372Arg Single submitter ⚠
p.His784Tyr Single submitter ⚠
p.Ile1020Val Single submitter ⚠
p.Ile1087Thr Single submitter ⚠
p.Ile1147Val Single submitter ⚠
p.Ile1216Val Single submitter ⚠
p.Ile123Met Single submitter ⚠
p.Ile385Met Single submitter ⚠
p.Ile498Val Single submitter ⚠
p.Ile771Asn Single submitter ⚠
p.Ile771Met Single submitter ⚠
p.Ile822Phe Single submitter ⚠
p.Ile879Met Single submitter ⚠
p.Ile879Phe Single submitter ⚠
p.Leu1336Pro Single submitter ⚠
p.Leu143Pro Single submitter ⚠
p.Leu1447Val Single submitter ⚠
p.Leu180Val Single submitter ⚠
p.Leu522Phe Single submitter ⚠
p.Leu69Pro Single submitter ⚠
p.Leu724Pro Single submitter ⚠
p.Lys1052Gln Single submitter ⚠
p.Lys1318Glu Single submitter ⚠
p.Lys318Asn Single submitter ⚠
p.Lys73Arg Single submitter ⚠
p.Lys901Met Single submitter ⚠
p.Met1382Ile Single submitter ⚠
p.Met1488Ile Single submitter ⚠
p.Met251Lys Single submitter ⚠
p.Met584Ile Single submitter ⚠
p.Pro1285Arg Single submitter ⚠
p.Pro1412Leu Single submitter ⚠
p.Pro1412Ser Single submitter ⚠
p.Pro297Leu Single submitter ⚠
p.Pro30Leu Single submitter ⚠
p.Pro342Arg Single submitter ⚠
p.Pro50Ser Single submitter
p.Ser1107Arg Single submitter ⚠
p.Ser1152Leu Single submitter ⚠
p.Ser1159Thr Single submitter ⚠
p.Ser1277Asn Single submitter ⚠
p.Ser1330Thr Single submitter ⚠
p.Ser1377Leu Single submitter ⚠
p.Ser298Pro Single submitter ⚠
p.Ser451Phe Single submitter ⚠
p.Ser486Leu Single submitter ⚠
p.Ser492Arg Single submitter ⚠
p.Ser542Gly Single submitter ⚠
p.Ser668Ala Single submitter ⚠
p.Ser779Tyr Single submitter ⚠
p.Ser912Pro Single submitter ⚠
p.Thr115Asn Single submitter ⚠
p.Thr224Ile Single submitter ⚠
p.Thr23Arg Single submitter ⚠
p.Thr267Met Single submitter ⚠
p.Thr533Ser Single submitter ⚠
p.Thr536Ala Single submitter ⚠
p.Thr593Ile Single submitter ⚠
p.Thr633Ile Single submitter ⚠
p.Thr890Ile Single submitter ⚠
p.Trp1272Cys Single submitter ⚠
p.Trp431Arg Single submitter ⚠
p.Trp865Cys Single submitter ⚠
p.Tyr1077Cys Single submitter ⚠
p.Tyr693Cys Single submitter ⚠
p.Tyr90His Single submitter ⚠
p.Val1014Ile Single submitter ⚠
p.Val1103Ile Single submitter ⚠
p.Val114Phe Single submitter ⚠
p.Val1160Ile Single submitter ⚠
p.Val1226Ala Single submitter ⚠
p.Val1255Met Single submitter ⚠
p.Val1296Gly Single submitter ⚠
p.Val1434Met Single submitter ⚠
p.Val286Met Single submitter ⚠
p.Val395Ala Single submitter ⚠
p.Val406Met Single submitter ⚠
p.Val415Leu Single submitter ⚠
p.Val460Ile Single submitter ⚠
p.Val555Met Single submitter ⚠
p.Val557Met Single submitter ⚠
p.Val597Met Single submitter
p.Val660Met Single submitter ⚠
p.Val823Met Single submitter ⚠
p.Val829Leu Single submitter
p.Val96Ala Single submitter ⚠