TRPC3 — 223 ClinVar variants

All ClinVar germline TRPC3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

1 Pathogenic · 14 Benign · 3 Benign/Likely benign · 76 Likely benign · 129 Uncertain significance

Full TRPC3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

All TRPC3 variants

Pathogenic 1

p.Val474fs Single submitter spinocerebellar ataxia type 41

Benign 14

p.Gly39= Multiple submitters spinocerebellar ataxia type 41
p.Gly432= Multiple submitters
p.Lys268= Multiple submitters
c.2057+10del Single submitter
c.2253+20A>G Single submitter
c.2254-18dup Single submitter
c.2624-17dup Single submitter
p.Ala99= Single submitter
p.Arg806= Single submitter
p.Asp118= Single submitter
p.Glu890= Single submitter
p.Lys912Thr Single submitter
p.Ser896Gly Single submitter
p.Tyr221= Single submitter

Benign/Likely benign 3

p.Lys569= Multiple submitters
p.Ser788= Multiple submitters
p.Thr568= Multiple submitters

Likely benign 76

p.Asn823= Multiple submitters
p.Asp810= Multiple submitters
p.Leu709= Multiple submitters
p.Ser706= Multiple submitters
c.1176+18C>G Single submitter
c.1177-19A>T Single submitter
c.1342-20T>C Single submitter
c.1558+18A>C Single submitter
c.1558+9T>A Single submitter
c.2057+14_2057+18del Single submitter
c.2058-19del Single submitter
c.2058-20G>C Single submitter
c.215+15C>T Single submitter
c.215+9C>T Single submitter
c.216-16C>T Single submitter
c.216-8C>T Single submitter
c.2253+7C>T Single submitter
c.2253+8G>A Single submitter
c.2463+10G>A Single submitter
c.2463+9C>T Single submitter
c.2464-14G>A Single submitter
c.2547+15G>C Single submitter
c.2547+17C>T Single submitter
c.2547+18G>A Single submitter
c.987+19C>G Single submitter
p.Ala111= Single submitter
p.Ala173= Single submitter
p.Ala193= Single submitter
p.Ala563= Single submitter
p.Ala627= Single submitter
p.Arg105= Single submitter
p.Arg374= Single submitter
p.Arg50= Single submitter
p.Arg803= Single submitter
p.Asn149= Single submitter
p.Asp177= Single submitter
p.Asp494= Single submitter
p.Cys272= Single submitter
p.Cys526Tyr Single submitter spinocerebellar ataxia type 41
p.Gln401= Single submitter
p.Gln827= Single submitter
p.Glu158= Single submitter
p.Gly270= Single submitter
p.Gly449= Single submitter
p.Gly725= Single submitter
p.His278= Single submitter
p.His462= Single submitter
p.His68= Single submitter
p.Ile234= Single submitter
p.Ile259= Single submitter
p.Ile406= Single submitter
p.Ile442= Single submitter
p.Leu153= Single submitter
p.Leu302= Single submitter
p.Leu414= Single submitter
p.Leu918= Single submitter
p.Lys169= Single submitter
p.Lys204= Single submitter
p.Lys809= Single submitter
p.Phe435= Single submitter
p.Phe770= Single submitter
p.Pro232= Single submitter
p.Pro58= Single submitter
p.Pro638= Single submitter
p.Ser465= Single submitter
p.Thr486= Single submitter
p.Tyr573= Single submitter
p.Tyr721= Single submitter
p.Tyr859= Single submitter
p.Val428= Single submitter
p.Val474= Single submitter
p.Val620= Single submitter
p.Val647= Single submitter
p.Val797Ile Single submitter
p.Leu167= No assertion criteria TRPC3-related disorder
p.Val128= No assertion criteria TRPC3-related disorder

Uncertain significance 129

p.Arg381Cys Multiple submitters
p.Arg795Gln Multiple submitters
p.Asn728Ser Multiple submitters
p.Glu901Lys Multiple submitters
p.Ile629Val Multiple submitters
p.Leu905Val Multiple submitters
p.Lys710Arg Multiple submitters
p.Pro444Ser Multiple submitters spinocerebellar ataxia type 41
p.Thr705Ser Multiple submitters
c.1558+4A>T Single submitter
c.216-3T>C Single submitter
c.2547+3A>G Single submitter
p.23EDEG[1] Single submitter
p.Ala111Thr Single submitter
p.Ala201Thr Single submitter
p.Ala240Gly Single submitter
p.Ala443Val Single submitter
p.Ala559Pro Single submitter
p.Ala632Ser Single submitter
p.Arg115Cys Single submitter
p.Arg129Ser Single submitter
p.Arg333Trp Single submitter
p.Arg351Gln Single submitter
p.Arg351Ter Single submitter
p.Arg381His Single submitter
p.Arg41Trp Single submitter
p.Arg447Ser Single submitter
p.Arg535Met Single submitter
p.Arg56Pro Single submitter
p.Arg762Cys Single submitter
p.Arg762His Single submitter spinocerebellar ataxia type 41
p.Arg847Cys Single submitter
p.Arg858Gly Single submitter
p.Asn171Ser Single submitter
p.Asn798Asp Single submitter
p.Asn823Thr Single submitter
p.Asn869Lys Single submitter
p.Asp264Asn Single submitter
p.Asp479Gly Single submitter
p.Asp600Asn Single submitter
p.Asp753Asn Single submitter
p.Asp870Glu Single submitter
p.Asp883Tyr Single submitter
p.Asp894Asn Single submitter
p.Cys350Phe Single submitter
p.Cys423Tyr Single submitter
p.Gln572His Single submitter
p.Gln572Leu Single submitter
p.Gln593Arg Single submitter
p.Gln849Lys Single submitter spinocerebellar ataxia type 41
p.Gln897His Single submitter
p.Glu112Gln Single submitter
p.Glu29Asp Single submitter
p.Glu305Lys Single submitter
p.Glu482Ala Single submitter
p.Glu525Lys Single submitter
p.Glu591Gln Single submitter
p.Glu874Ter Single submitter
p.Gly106Ser Single submitter
p.Gly293Glu Single submitter
p.Gly39Cys Single submitter
p.Gly45Arg Single submitter
p.Gly816Asp Single submitter
p.Ile194Val Single submitter
p.Ile386Val Single submitter
p.Ile438Phe Single submitter
p.Ile467Phe Single submitter
p.Ile467Val Single submitter
p.Ile552Leu Single submitter
p.Ile554Leu Single submitter
p.Ile610Met Single submitter
p.Ile617Val Single submitter
p.Ile666Met Single submitter
p.Ile666Phe Single submitter
p.Ile793Phe Single submitter
p.Ile796Val Single submitter
p.Ile811Met Single submitter
p.Leu300Phe Single submitter
p.Leu431Pro Single submitter
p.Leu656Pro Single submitter
p.Leu739Pro Single submitter spinocerebellar ataxia type 41
p.Lys334Asn Single submitter
p.Lys774Asn Single submitter
p.Lys801Arg Single submitter
p.Lys895Arg Single submitter
p.Met131Ile Single submitter
p.Met254Leu Single submitter
p.Met512Leu Single submitter
p.Met512Thr Single submitter
p.Met742Val Single submitter
p.Met813Thr Single submitter
p.Met852Lys Single submitter spinocerebellar ataxia type 41
p.Phe230Ser Single submitter spinocerebellar ataxia type 41
p.Phe780Leu Single submitter
p.Phe792Leu Single submitter
p.Pro262Leu Single submitter
p.Pro297Arg Single submitter
p.Pro307Gln Single submitter
p.Pro444Leu Single submitter
p.Pro49Leu Single submitter
p.Pro53Leu Single submitter
p.Pro64Leu Single submitter
p.Pro915Leu Single submitter
p.Ser203Arg Single submitter
p.Ser286Trp Single submitter spinocerebellar ataxia type 41
p.Ser296Arg Single submitter
p.Ser296Asn Single submitter
p.Ser336Thr Single submitter
p.Ser380Asn Single submitter
p.Ser51Leu Single submitter
p.Ser673Phe Single submitter
p.Ser781Gly Single submitter
p.Ser820Phe Single submitter
p.Ser886Arg Single submitter
p.Thr405Met Single submitter
p.Thr418Asn Single submitter
p.Thr568Met Single submitter
p.Thr685Ser Single submitter spinocerebellar ataxia type 41
p.Tyr291Phe Single submitter
p.Tyr332Cys Single submitter
p.Tyr672His Single submitter
p.Tyr675Ter Single submitter
p.Val346Leu Single submitter
p.Val429Met Single submitter
p.Val578Ile Single submitter
p.Val704Met Single submitter
p.Val722Ile Single submitter
p.Glu317Lys No assertion criteria spinocerebellar ataxia type 41
p.Ile554Thr No assertion criteria essential tremor