ClinVar Miner

List of variants studied for Waardenburg syndrome type 4C

Included ClinVar conditions (2):
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Total variants: 27
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HGVS dbSNP
GRCh38/hg38 22q13.1(chr22:37805546-37983784)x1
NM_001301130.2(POLR2F):c.293+6519_293+6523del rs1569167586
NM_001301130.2(POLR2F):c.293+6619del rs1555937390
NM_001301130.2(POLR2F):c.293+6634dup rs1555937395
NM_001301130.2(POLR2F):c.293+6651_293+6652del rs397515367
NM_001301130.2(POLR2F):c.293+6792dup rs1555937463
NM_001301130.2(POLR2F):c.294-2507del rs1064796049
NM_001301130.2(POLR2F):c.294-2618G>C rs73415876
NM_001301130.2(POLR2F):c.294-2642_294-2623dup rs1555939476
NM_001301130.2(POLR2F):c.294-2644_294-2640del rs483353057
NM_001301130.2(POLR2F):c.294-2669_294-2667delinsCC rs1555939460
NM_001301130.2(POLR2F):c.294-2747dup rs1555939421
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_006941.3(SOX10):c.211T>G (p.Cys71Gly) rs200683397
NM_006941.3(SOX10):c.301A>T (p.Lys101Ter) rs1555939459
NM_006941.3(SOX10):c.334A>G (p.Met112Val) rs1555939439
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
NM_006941.4(SOX10):c.698-740_1085delinsCCT

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