ClinVar Miner

List of variants reported as pathogenic for Waardenburg syndrome type 4C by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_001301130.2(POLR2F):c.293+6641_293+7768delinsAGG
NM_006941.3(SOX10):c.1075_1076GA[1] (p.Glu359fs) rs397515367
NM_006941.3(SOX10):c.1129C>T (p.Gln377Ter) rs74315520
NM_006941.3(SOX10):c.249C>G (p.Tyr83Ter) rs73415876
NM_006941.3(SOX10):c.470C>T (p.Ala157Val) rs121909117
NM_006941.3(SOX10):c.482_483insGCTCCT (p.Met162_Gln163insLeuLeu) rs397515366
NM_006941.3(SOX10):c.565G>T (p.Glu189Ter) rs74315514
NM_006941.3(SOX10):c.621C>G (p.Tyr207Ter) rs281797260

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