ClinVar Miner

List of variants reported as likely pathogenic for Waardenburg syndrome type 2A

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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NM_001301130.2(POLR2F):c.293+6635del rs1555937398
NM_001301130.2(POLR2F):c.294-8020del rs1555938422
NM_001354604.2(MITF):c.1022C>G (p.Ser341Ter) rs1553704841
NM_001354604.2(MITF):c.1031+4A>C rs1553704850
NM_001354604.2(MITF):c.1039C>G (p.Arg347Gly) rs1559751245
NM_001354604.2(MITF):c.1084C>T (p.Arg362Ter) rs1057517966
NM_001354604.2(MITF):c.649C>T (p.Arg217Ter) rs1553702006
NM_001354604.2(MITF):c.730_731delinsCC (p.Leu244Pro) rs1553702406
NM_001354604.2(MITF):c.925G>A (p.Glu309Lys) rs1553704086
NM_001354604.2(MITF):c.953T>C (p.Leu318Pro) rs1553704097
NM_006941.3(SOX10):c.403A>C (p.Ser135Arg) rs1555939415
NM_006941.3(SOX10):c.44_62del (p.Val15fs) rs1555939564

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