ClinVar Miner

List of variants reported as likely pathogenic for Waardenburg syndrome type 4C by Center for Human Genetics, Inc

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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NM_001301130.2(POLR2F):c.293+6619del rs1555937390
NM_001301130.2(POLR2F):c.293+6634dup rs1555937395
NM_001301130.2(POLR2F):c.293+6792dup rs1555937463
NM_001301130.2(POLR2F):c.294-2507del rs1064796049
NM_001301130.2(POLR2F):c.294-2642_294-2623dup rs1555939476
NM_001301130.2(POLR2F):c.294-2669_294-2667delinsCC rs1555939460
NM_001301130.2(POLR2F):c.294-2747dup rs1555939421
NM_006941.3(SOX10):c.301A>T (p.Lys101Ter) rs1555939459
NM_006941.3(SOX10):c.364C>G (p.Leu122Val) rs1555939426
NM_006941.3(SOX10):c.426G>C (p.Trp142Cys) rs1555939403
NM_006941.3(SOX10):c.452G>C (p.Arg151Pro) rs1373797370
NM_006941.3(SOX10):c.586G>T (p.Glu196Ter) rs763210407

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