ClinVar Miner

List of variants studied for Waardenburg syndrome type 2A by Laboratory of Human Genetics,Universidade de São Paulo

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) rs5352
NM_001301130.2(POLR2F):c.293+6635del rs1555937398
NM_001301130.2(POLR2F):c.294-8020del rs1555938422
NM_001354604.2(MITF):c.1084C>T (p.Arg362Ter) rs1057517966
NM_001354604.2(MITF):c.649C>T (p.Arg217Ter) rs1553702006
NM_006941.3(SOX10):c.403A>C (p.Ser135Arg) rs1555939415
NM_006941.3(SOX10):c.44_62del (p.Val15fs) rs1555939564

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