ClinVar Miner

List of variants in gene combination POLR2F, SOX10 reported as pathogenic for Waardenburg syndrome type 4C

Included ClinVar conditions (2):
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Total variants: 11
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HGVS dbSNP
NM_001301130.2(POLR2F):c.293+6519_293+6523del rs1569167586
NM_001301130.2(POLR2F):c.293+6651_293+6652del rs397515367
NM_001301130.2(POLR2F):c.294-2618G>C rs73415876
NM_001301130.2(POLR2F):c.294-8060G>A rs121909117
NM_001301130.2(POLR2F):c.294-8073_294-8072insAGGAGC rs397515366
NM_001301130.2(POLR2F):c.294-8155C>A rs74315514
NM_001301130.2(POLR2F):c.294-8211G>C rs281797260
NM_006941.3(SOX10):c.1090C>T (p.Gln364Ter) rs1555937400
NM_006941.3(SOX10):c.1129C>T (p.Gln377Ter) rs74315520
NM_006941.3(SOX10):c.127C>T (p.Arg43Ter) rs1555939523
NM_006941.4(SOX10):c.698-740_1085delinsCCT

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