ClinVar Miner

List of variants studied for Waardenburg syndrome type 2

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 148
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HGVS dbSNP
NG_012130.1:g.(?_5165)_(7623_?)del
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) rs5352
NM_001301130.2(POLR2F):c.293+6635del rs1555937398
NM_001301130.2(POLR2F):c.294-8020del rs1555938422
NM_001354604.2(MITF):c.*1101G>A rs557878790
NM_001354604.2(MITF):c.*1120C>A
NM_001354604.2(MITF):c.*1150T>C rs150314710
NM_001354604.2(MITF):c.*115C>T rs886058809
NM_001354604.2(MITF):c.*1248T>C rs2131025
NM_001354604.2(MITF):c.*1270G>A
NM_001354604.2(MITF):c.*12T>C rs201375960
NM_001354604.2(MITF):c.*1380A>G
NM_001354604.2(MITF):c.*1491A>G rs80212793
NM_001354604.2(MITF):c.*1502A>T rs766340943
NM_001354604.2(MITF):c.*1570C>T rs528276006
NM_001354604.2(MITF):c.*1666T>G
NM_001354604.2(MITF):c.*1770C>T
NM_001354604.2(MITF):c.*1869G>T rs886058814
NM_001354604.2(MITF):c.*1893C>T rs886058815
NM_001354604.2(MITF):c.*1933C>T rs555688827
NM_001354604.2(MITF):c.*1934G>T rs572298352
NM_001354604.2(MITF):c.*1941A>G
NM_001354604.2(MITF):c.*2029A>T rs571540517
NM_001354604.2(MITF):c.*2068C>T rs576
NM_001354604.2(MITF):c.*2077G>T rs886058816
NM_001354604.2(MITF):c.*2079A>C rs886058817
NM_001354604.2(MITF):c.*2140T>C
NM_001354604.2(MITF):c.*2160A>G
NM_001354604.2(MITF):c.*2170A>G rs78240629
NM_001354604.2(MITF):c.*2275G>A
NM_001354604.2(MITF):c.*228C>T rs190540926
NM_001354604.2(MITF):c.*2294A>G
NM_001354604.2(MITF):c.*235T>C rs183031244
NM_001354604.2(MITF):c.*23C>T rs746168511
NM_001354604.2(MITF):c.*2458G>A rs77962238
NM_001354604.2(MITF):c.*24G>A
NM_001354604.2(MITF):c.*2505C>T rs704246
NM_001354604.2(MITF):c.*2552A>G
NM_001354604.2(MITF):c.*2580C>T rs139487027
NM_001354604.2(MITF):c.*2588G>A rs559658244
NM_001354604.2(MITF):c.*2632C>T
NM_001354604.2(MITF):c.*2673T>G
NM_001354604.2(MITF):c.*2753T>C rs886058819
NM_001354604.2(MITF):c.*2807G>A
NM_001354604.2(MITF):c.*2831A>G
NM_001354604.2(MITF):c.*2868T>C rs529623175
NM_001354604.2(MITF):c.*286G>A rs187361634
NM_001354604.2(MITF):c.*2881C>T
NM_001354604.2(MITF):c.*2892C>T
NM_001354604.2(MITF):c.*2918C>G
NM_001354604.2(MITF):c.*2924C>T
NM_001354604.2(MITF):c.*2952T>C
NM_001354604.2(MITF):c.*3033A>G rs139770177
NM_001354604.2(MITF):c.*3060C>T
NM_001354604.2(MITF):c.*309T>C
NM_001354604.2(MITF):c.*379T>C rs552044239
NM_001354604.2(MITF):c.*421G>T rs886058812
NM_001354604.2(MITF):c.*442A>G
NM_001354604.2(MITF):c.*447C>A rs546175299
NM_001354604.2(MITF):c.*486G>A
NM_001354604.2(MITF):c.*48T>C rs9863910
NM_001354604.2(MITF):c.*524T>G
NM_001354604.2(MITF):c.*556T>C rs573364713
NM_001354604.2(MITF):c.*581G>A
NM_001354604.2(MITF):c.*662T>C rs886058813
NM_001354604.2(MITF):c.*75G>T
NM_001354604.2(MITF):c.*802A>T
NM_001354604.2(MITF):c.*810T>A
NM_001354604.2(MITF):c.*824T>A
NM_001354604.2(MITF):c.*836G>T rs558793046
NM_001354604.2(MITF):c.*857C>G
NM_001354604.2(MITF):c.*857C>T
NM_001354604.2(MITF):c.1000dup (p.Leu334fs)
NM_001354604.2(MITF):c.1022C>G (p.Ser341Ter) rs1553704841
NM_001354604.2(MITF):c.1031+14C>T
NM_001354604.2(MITF):c.1031+15G>A rs144757214
NM_001354604.2(MITF):c.1031+1G>A rs1559749017
NM_001354604.2(MITF):c.1031+4A>C rs1553704850
NM_001354604.2(MITF):c.1032-4G>A
NM_001354604.2(MITF):c.1039C>G (p.Arg347Gly) rs1559751245
NM_001354604.2(MITF):c.1056C>T (p.Thr352=)
NM_001354604.2(MITF):c.1064A>G (p.Lys355Arg)
NM_001354604.2(MITF):c.1069T>C (p.Ser357Pro) rs104893744
NM_001354604.2(MITF):c.1072G>A (p.Val358Met) rs1271000541
NM_001354604.2(MITF):c.1084C>T (p.Arg362Ter) rs1057517966
NM_001354604.2(MITF):c.1145del (p.Glu382fs) rs1553705282
NM_001354604.2(MITF):c.1154A>G (p.Asn385Ser) rs368915509
NM_001354604.2(MITF):c.1179+14G>A
NM_001354604.2(MITF):c.1179+15T>C
NM_001354604.2(MITF):c.1180-11T>C
NM_001354604.2(MITF):c.1182A>G (p.Glu394=) rs137904015
NM_001354604.2(MITF):c.1208del (p.Gly403fs) rs878853234
NM_001354604.2(MITF):c.1213T>C (p.Ser405Pro) rs104893747
NM_001354604.2(MITF):c.1222C>G (p.Pro408Ala) rs199992377
NM_001354604.2(MITF):c.1259G>A (p.Arg420Gln) rs201351378
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956
NM_001354604.2(MITF):c.1280T>C (p.Val427Ala) rs2055006
NM_001354604.2(MITF):c.1320A>T (p.Ala440=) rs886058808
NM_001354604.2(MITF):c.1381C>A (p.Leu461Ile) rs78962087
NM_001354604.2(MITF):c.1396G>A (p.Glu466Lys)
NM_001354604.2(MITF):c.1517G>A (p.Gly506Glu)
NM_001354604.2(MITF):c.1566G>A (p.Thr522=) rs36118030
NM_001354604.2(MITF):c.1569G>A (p.Glu523=) rs200830148
NM_001354604.2(MITF):c.1573A>G (p.Thr525Ala)
NM_001354604.2(MITF):c.355-1062G>C rs1236436555
NM_001354604.2(MITF):c.355-1066G>A rs1553701477
NM_001354604.2(MITF):c.355-1113C>T
NM_001354604.2(MITF):c.355-1135G>A rs77588960
NM_001354604.2(MITF):c.355-1219G>A
NM_001354604.2(MITF):c.366C>T (p.His122=) rs140663277
NM_001354604.2(MITF):c.505A>G (p.Met169Val) rs143224466
NM_001354604.2(MITF):c.531A>G (p.Ala177=)
NM_001354604.2(MITF):c.621C>T (p.Ser207=)
NM_001354604.2(MITF):c.623A>G (p.Glu208Gly) rs200108255
NM_001354604.2(MITF):c.644A>T (p.His215Leu) rs761038653
NM_001354604.2(MITF):c.649C>T (p.Arg217Ter) rs1553702006
NM_001354604.2(MITF):c.669G>A (p.Met223Ile) rs1032758072
NM_001354604.2(MITF):c.709dup (p.Tyr237fs)
NM_001354604.2(MITF):c.730_731delinsCC (p.Leu244Pro) rs1553702406
NM_001354604.2(MITF):c.763-2A>C rs1553703612
NM_001354604.2(MITF):c.861C>G (p.Asn287Lys)
NM_001354604.2(MITF):c.880+9C>G rs181810413
NM_001354604.2(MITF):c.882G>A (p.Ala294=)
NM_001354604.2(MITF):c.925G>A (p.Glu309Lys) rs1553704086
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.956-1G>A rs1057519327
NM_001354604.2(MITF):c.956-2A>G
NM_001354604.2(MITF):c.961C>T (p.Arg321Ter) rs104893746
NM_001354604.2(MITF):c.970A>G (p.Arg324Gly) rs1057519326
NM_001354604.2(MITF):c.987C>A (p.Asp329Glu)
NM_001354604.2(MITF):c.989G>A (p.Arg330His) rs763119975
NM_001354604.2(MITF):c.990C>T (p.Arg330=)
NM_001354604.2(MITF):c.997G>A (p.Glu333Lys) rs147682682
NM_001354604.2(MITF):c.997G>T (p.Glu333Ter) rs147682682
NM_006941.3(SOX10):c.1169C>G (p.Ser390Ter) rs1569167607
NM_006941.3(SOX10):c.316C>G (p.Arg106Gly) rs1057518656
NM_006941.3(SOX10):c.334A>G (p.Met112Val) rs1555939439
NM_006941.3(SOX10):c.403A>C (p.Ser135Arg) rs1555939415
NM_006941.3(SOX10):c.415G>T (p.Gly139Cys) rs1569171143
NM_006941.3(SOX10):c.44_62del (p.Val15fs) rs1555939564
NM_006941.3(SOX10):c.487C>T (p.Gln163Ter) rs1569169289
NM_006941.4(SOX10):c.1379del (p.Tyr460fs)
NM_006941.4(SOX10):c.403A>G (p.Ser135Gly)
NM_006941.4(SOX10):c.426G>T (p.Trp142Cys)
NM_006941.4(SOX10):c.428+2T>C
NM_006941.4(SOX10):c.479T>C (p.Leu160Pro)
NM_006941.4(SOX10):c.482G>A (p.Arg161His)

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