ClinVar Miner

List of variants studied for Waardenburg syndrome type 4C

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_006941.4(SOX10):c.927T>C (p.His309=) rs139884 0.68861
NM_006941.4(SOX10):c.211T>G (p.Cys71Gly) rs200683397 0.00021
NM_006941.4(SOX10):c.1093G>C (p.Gly365Arg) rs748755187 0.00011
NM_006941.4(SOX10):c.768G>A (p.Pro256=) rs773109683 0.00005
NM_006941.4(SOX10):c.975C>T (p.Ala325=) rs760496644 0.00004
NM_006941.4(SOX10):c.1081G>A (p.Ala361Thr) rs770105416 0.00001
GRCh38/hg38 22q13.1(chr22:37805546-37983784)x1
NM_006941.4(SOX10):c.1077_1078del (p.Glu359fs) rs397515367
NM_006941.4(SOX10):c.1090C>T (p.Gln364Ter) rs1555937400
NM_006941.4(SOX10):c.1095dup (p.Pro366fs) rs1555937395
NM_006941.4(SOX10):c.1107del (p.His368_Tyr369insTer) rs1555937390
NM_006941.4(SOX10):c.1129C>T (p.Gln377Ter) rs74315520
NM_006941.4(SOX10):c.1205_1209del (p.Asp401_Tyr402insTer) rs1569167586
NM_006941.4(SOX10):c.127C>T (p.Arg43Ter) rs1555939523
NM_006941.4(SOX10):c.1352_1359dup (p.His454fs) rs1601878540
NM_006941.4(SOX10):c.141del (p.Pro48fs) rs1064796049
NM_006941.4(SOX10):c.249C>G (p.Tyr83Ter) rs73415876
NM_006941.4(SOX10):c.255_274dup (p.Val92fs) rs1555939476
NM_006941.4(SOX10):c.271_275del (p.Pro91fs) rs483353057
NM_006941.4(SOX10):c.298_300delinsGG (p.Ser100fs) rs1555939460
NM_006941.4(SOX10):c.301A>T (p.Lys101Ter) rs1555939459
NM_006941.4(SOX10):c.334A>G (p.Met112Val) rs1555939439
NM_006941.4(SOX10):c.336G>T (p.Met112Ile) rs2145777042
NM_006941.4(SOX10):c.341G>C (p.Trp114Ser)
NM_006941.4(SOX10):c.364C>G (p.Leu122Val) rs1555939426
NM_006941.4(SOX10):c.376_377insG (p.Tyr126Ter)
NM_006941.4(SOX10):c.378C>A (p.Tyr126Ter) rs2145776981
NM_006941.4(SOX10):c.380dup (p.His128fs) rs1555939421
NM_006941.4(SOX10):c.404G>A (p.Ser135Asn) rs74315515
NM_006941.4(SOX10):c.426G>C (p.Trp142Cys) rs1555939403
NM_006941.4(SOX10):c.448A>G (p.Lys150Glu) rs1932280017
NM_006941.4(SOX10):c.44_62del (p.Val15fs) rs1555939564
NM_006941.4(SOX10):c.452G>C (p.Arg151Pro) rs1373797370
NM_006941.4(SOX10):c.470C>T (p.Ala157Val) rs121909117
NM_006941.4(SOX10):c.479T>C (p.Leu160Pro) rs1482985217
NM_006941.4(SOX10):c.481C>T (p.Arg161Cys) rs2145768544
NM_006941.4(SOX10):c.482_483insGCTCCT (p.Arg161_Met162insLeuLeu) rs397515366
NM_006941.4(SOX10):c.512A>C (p.Tyr171Ser)
NM_006941.4(SOX10):c.520C>T (p.Gln174Ter) rs2145768481
NM_006941.4(SOX10):c.565G>T (p.Glu189Ter) rs74315514
NM_006941.4(SOX10):c.570C>A (p.Cys190Ter) rs756120041
NM_006941.4(SOX10):c.576del (p.Glu194fs)
NM_006941.4(SOX10):c.586G>T (p.Glu196Ter) rs763210407
NM_006941.4(SOX10):c.610C>T (p.Gln204Ter) rs2145768136
NM_006941.4(SOX10):c.621C>G (p.Tyr207Ter) rs281797260
NM_006941.4(SOX10):c.698-740_1085delinsCCT
NM_006941.4(SOX10):c.718A>C (p.Thr240Pro) rs1332625359
NM_006941.4(SOX10):c.89C>A (p.Ser30Ter) rs1932477493
NM_006941.4(SOX10):c.934dup (p.Ser312fs) rs1555937463
NM_006941.4(SOX10):c.979del (p.Ala327fs) rs1932141204

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