ClinVar Miner

List of variants reported as uncertain significance for Waardenburg-Shah syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001122659.3(EDNRB):c.1285G>A (p.Gly429Arg) rs144565124 0.00022
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.1212G>A (p.Trp404Ter) rs1566302937
NM_006941.4(SOX10):c.334A>G (p.Met112Val) rs1555939439

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