ClinVar Miner

List of variants reported as uncertain significance for Waardenburg-Shah syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001122659.3(EDNRB):c.-26G>A rs2070591 0.00043
NM_001122659.3(EDNRB):c.1285G>A (p.Gly429Arg) rs144565124 0.00022
NM_006941.4(SOX10):c.211T>G (p.Cys71Gly) rs200683397 0.00021
NM_006941.4(SOX10):c.1093G>C (p.Gly365Arg) rs748755187 0.00011
NM_207034.3(EDN3):c.688C>T (p.Arg230Cys) rs372958987 0.00009
NM_207034.3(EDN3):c.43T>G (p.Ser15Ala) rs374697035 0.00006
NM_006941.4(SOX10):c.768G>A (p.Pro256=) rs773109683 0.00005
NM_001122659.3(EDNRB):c.973G>A (p.Val325Ile) rs201437745 0.00002
NM_001122659.3(EDNRB):c.403G>A (p.Gly135Ser) rs760677132 0.00001
NM_001122659.3(EDNRB):c.791C>T (p.Ala264Val) rs1212186974 0.00001
NM_001201397.2(EDNRB):c.18T>A (p.Cys6Ter) rs199927859 0.00001
NM_001122659.3(EDNRB):c.1103A>T (p.Asp368Val) rs2137603390
NM_001122659.3(EDNRB):c.1212G>A (p.Trp404Ter) rs1566302937
NM_001122659.3(EDNRB):c.1265_1283del (p.Lys422fs) rs2137599519
NM_001122659.3(EDNRB):c.688G>C (p.Val230Leu)
NM_001122659.3(EDNRB):c.886A>G (p.Met296Val)
NM_006941.4(SOX10):c.334A>G (p.Met112Val) rs1555939439
NM_006941.4(SOX10):c.576del (p.Glu194fs)
NM_006941.4(SOX10):c.718A>C (p.Thr240Pro) rs1332625359
NM_207034.3(EDN3):c.332G>T (p.Cys111Phe) rs773779627

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