ClinVar Miner

List of variants reported as pathogenic for Waardenburg syndrome type 2

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00160
NM_001354604.2(MITF):c.1213T>C (p.Ser405Pro) rs104893747 0.00004
NM_001354604.2(MITF):c.355-1062G>C rs1236436555 0.00001
NM_006941.4(SOX10):c.482G>A (p.Arg161His) rs750566714 0.00001
GRCh37/hg19 22q13.1(chr22:38155164-38541997)
GRCh37/hg19 3p13(chr3:69985815-69985964)
GRCh37/hg19 3p14.1-13(chr3:69739463-69968331)
NC_000003.11:g.(?_69985874)_(69990502_?)del
NC_000003.11:g.(?_69985874)_(70014399_?)del
NC_000003.11:g.(?_70013978)_(70014399_?)del
NM_000248.4(MITF):c.33+1G>A rs1553701477
NM_001354604.2(MITF):c.1000dup (p.Leu334fs) rs1576047519
NM_001354604.2(MITF):c.1031+1G>A rs1559749017
NM_001354604.2(MITF):c.1061T>G (p.Leu354Ter) rs2107537021
NM_001354604.2(MITF):c.1069T>C (p.Ser357Pro) rs104893744
NM_001354604.2(MITF):c.1084C>T (p.Arg362Ter) rs1057517966
NM_001354604.2(MITF):c.1096C>T (p.Arg366Ter) rs2066482593
NM_001354604.2(MITF):c.1129C>T (p.Arg377Ter) rs876657699
NM_001354604.2(MITF):c.1145del (p.Glu382fs) rs1553705282
NM_001354604.2(MITF):c.1198C>T (p.Arg400Ter) rs1464157509
NM_001354604.2(MITF):c.1208del (p.Gly403fs) rs878853234
NM_001354604.2(MITF):c.1230G>A (p.Thr410=) rs1057521096
NM_001354604.2(MITF):c.1273G>T (p.Glu425Ter) rs149617956
NM_001354604.2(MITF):c.1291dup (p.Cys431fs) rs2107552171
NM_001354604.2(MITF):c.1377del (p.Asn459fs) rs2066652447
NM_001354604.2(MITF):c.367del (p.Leu123fs)
NM_001354604.2(MITF):c.440T>G (p.Leu147Ter)
NM_001354604.2(MITF):c.643_644dup (p.Ser216fs)
NM_001354604.2(MITF):c.644dup (p.His215fs) rs2107483975
NM_001354604.2(MITF):c.649C>T (p.Arg217Ter) rs1553702006
NM_001354604.2(MITF):c.709dup (p.Tyr237fs) rs2065962813
NM_001354604.2(MITF):c.763-2A>C rs1553703612
NM_001354604.2(MITF):c.764T>A (p.Leu255Ter)
NM_001354604.2(MITF):c.808C>T (p.Leu270=) rs1439150504
NM_001354604.2(MITF):c.815del (p.Pro272fs)
NM_001354604.2(MITF):c.939G>C (p.Lys313Asn) rs1057519325
NM_001354604.2(MITF):c.953T>C (p.Leu318Pro) rs1553704097
NM_001354604.2(MITF):c.955+1G>C rs2107519634
NM_001354604.2(MITF):c.956-1G>A rs1057519327
NM_001354604.2(MITF):c.961C>T (p.Arg321Ter) rs104893746
NM_001354604.2(MITF):c.964AGA[2] (p.Arg324del) rs1553704814
NM_001354604.2(MITF):c.967del (p.Arg323fs) rs2066400236
NM_001354604.2(MITF):c.969_973del (p.Arg323fs) rs2066400330
NM_001354604.2(MITF):c.970A>G (p.Arg324Gly) rs1057519326
NM_001354604.2(MITF):c.997G>T (p.Glu333Ter) rs147682682
NM_006941.4(SOX10):c.1063C>T (p.Gln355Ter) rs1932137446
NM_006941.4(SOX10):c.1169C>G (p.Ser390Ter) rs1569167607
NM_006941.4(SOX10):c.1195C>T (p.Gln399Ter) rs1932130190
NM_006941.4(SOX10):c.1195_1196del (p.Gln399fs)
NM_006941.4(SOX10):c.127C>T (p.Arg43Ter) rs1555939523
NM_006941.4(SOX10):c.12_13delinsAT (p.Gln5Ter) rs2145777835
NM_006941.4(SOX10):c.1352_1359dup (p.His454fs) rs1601878540
NM_006941.4(SOX10):c.1379del (p.Tyr460fs) rs1932122748
NM_006941.4(SOX10):c.198_262del (p.Lys67fs) rs2145777238
NM_006941.4(SOX10):c.232C>T (p.Gln78Ter) rs1555939491
NM_006941.4(SOX10):c.323T>C (p.Met108Thr) rs1932464492
NM_006941.4(SOX10):c.326A>G (p.Asn109Ser) rs1932464388
NM_006941.4(SOX10):c.341G>A (p.Trp114Ter) rs1932463755
NM_006941.4(SOX10):c.424T>C (p.Trp142Arg) rs1555939408
NM_006941.4(SOX10):c.426G>T (p.Trp142Cys) rs1555939403
NM_006941.4(SOX10):c.428+1G>A rs1932460904
NM_006941.4(SOX10):c.448A>T (p.Lys150Ter) rs1932280017
NM_006941.4(SOX10):c.463G>T (p.Glu155Ter) rs1932279377
NM_006941.4(SOX10):c.479T>C (p.Leu160Pro) rs1482985217
NM_006941.4(SOX10):c.487C>T (p.Gln163Ter) rs1569169289
NM_006941.4(SOX10):c.502del (p.His168fs) rs1932278265
NM_006941.4(SOX10):c.520C>T (p.Gln174Ter) rs2145768481
NM_006941.4(SOX10):c.523C>T (p.Pro175Ser) rs1555938395
NM_006941.4(SOX10):c.529_556del (p.Arg177fs) rs2145768352
NM_006941.4(SOX10):c.776_780del (p.Asp259fs) rs1932149722
NM_006941.4(SOX10):c.7G>T (p.Glu3Ter) rs1932482365
Single allele

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