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+6641_293+7768delinsAGG
NM_006941.3(SOX10):c.1075_1076GA[1] (p.Glu359fs) rs397515367
NM_006941.3(SOX10):c.1090C>T (p.Gln364Ter) rs1555937400
NM_006941.3(SOX10):c.1095dup (p.Pro366fs) rs1555937395
NM_006941.3(SOX10):c.1107del (p.His368_Tyr369insTer) rs1555937390
NM_006941.3(SOX10):c.1129C>T (p.Gln377Ter) rs74315520
NM_006941.3(SOX10):c.1205_1209del (p.Asp401_Tyr402insTer) rs1569167586
NM_006941.3(SOX10):c.127C>T (p.Arg43Ter) rs1555939523
NM_006941.3(SOX10):c.141del (p.Pro48fs) rs1064796049
NM_006941.3(SOX10):c.211T>G (p.Cys71Gly) rs200683397
NM_006941.3(SOX10):c.249C>G (p.Tyr83Ter) rs73415876
NM_006941.3(SOX10):c.255_274dup (p.Val92fs) rs1555939476
NM_006941.3(SOX10):c.271_275del (p.Pro91fs) rs483353057
NM_006941.3(SOX10):c.298_300delinsGG (p.Ser100fs) rs1555939460
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.380dup (p.His128fs) rs1555939421
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.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.586G>T (p.Glu196Ter) rs763210407
NM_006941.3(SOX10):c.621C>G (p.Tyr207Ter) rs281797260
NM_006941.3(SOX10):c.934dup (p.Ser312fs) rs1555937463

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