ClinVar Miner

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

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) rs5352 0.01109
NM_001354604.2(MITF):c.1084C>T (p.Arg362Ter) rs1057517966
NM_001354604.2(MITF):c.649C>T (p.Arg217Ter) rs1553702006
NM_006941.4(SOX10):c.1091del (p.Gln364fs) rs1555937398
NM_006941.4(SOX10):c.403A>C (p.Ser135Arg) rs1555939415
NM_006941.4(SOX10):c.430del (p.Leu144fs) rs1555938422
NM_006941.4(SOX10):c.44_62del (p.Val15fs) rs1555939564

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