ClinVar Miner

List of variants studied for Waardenburg syndrome type 4C by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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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.1129C>T (p.Gln377Ter) rs74315520

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