ClinVar Miner

List of variants reported as pathogenic for congenital limb malformation by University of Washington Center for Mendelian Genomics, University of Washington

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_004826.4(ECEL1):c.869A>G (p.Tyr290Cys) rs878853117 0.00001
NC_000023.10:g.71681853_72434328del752476
NM_001378183.1(PIEZO2):c.2134A>G (p.Met712Val) rs587777453
NM_001378183.1(PIEZO2):c.3068T>C (p.Met1023Thr) rs878853140
NM_001378183.1(PIEZO2):c.7001C>T (p.Thr2334Ile) rs878853139
NM_001378183.1(PIEZO2):c.7007C>T (p.Ser2336Leu) rs878853138
NM_001378183.1(PIEZO2):c.7406C>T (p.Thr2469Met) rs878853137
NM_001378183.1(PIEZO2):c.8395C>T (p.Arg2799Cys) rs587777451
NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His) rs587777450
NM_001378183.1(PIEZO2):c.8492G>C (p.Arg2831Pro) rs587777452
NM_001378183.1(PIEZO2):c.8492G>T (p.Arg2831Leu) rs587777452
NM_001378183.1(PIEZO2):c.8514AGA[2] (p.Glu2840del) rs1555621138
NM_001378183.1(PIEZO2):c.8547del (p.Tyr2850fs) rs878853135
NM_001378183.1(PIEZO2):c.8554T>C (p.Ser2852Pro) rs587777454
NM_001378183.1(PIEZO2):c.8577_8584del (p.Trp2859_Glu2862delinsTer) rs724159993
NM_002470.4(MYH3):c.3214_3216dup (p.Asn1072dup) rs878853126
NM_002470.4(MYH3):c.3224A>C (p.Gln1075Pro) rs796051884
NM_002470.4(MYH3):c.724TCC[1] (p.Ser243del) rs1555527166
NM_004826.3(ECEL1):c.[1184+3A>T;1252C>A]
NM_004826.3(ECEL1):c.[1252C>T;590G>A]
NM_004826.3(ECEL1):c.[344_355delACCTGGACGCCA;716dupA]
NM_004826.4(ECEL1):c.1184G>A (p.Arg395Gln) rs765430577
NM_004826.4(ECEL1):c.716dup (p.Tyr239Ter) rs587776917
NM_004826.4(ECEL1):c.797_801delinsGCT (p.Asp266fs) rs878853118
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.4(BRCA1):c.594_597delTGTG rs797045175
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp) rs587777695
NM_182895.5(SCARF2):c.190T>C (p.Cys64Arg) rs587777657
NM_182895.5(SCARF2):c.466TGCCAG[1] (p.156CQ[1]) rs2146131503
NM_182895.5(SCARF2):c.651C>G (p.Cys217Trp) rs2146130979

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