ClinVar Miner

List of variants in gene WFS1 studied for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 270
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HGVS dbSNP
NM_001145853.1(WFS1):c.2648_2651del (p.Phe883fs) rs797045076
NM_006005.3(WFS1):c.*11C>G
NM_006005.3(WFS1):c.*131C>T rs55993016
NM_006005.3(WFS1):c.*149G>A rs1046320
NM_006005.3(WFS1):c.*14C>T
NM_006005.3(WFS1):c.*158G>A
NM_006005.3(WFS1):c.*223C>G
NM_006005.3(WFS1):c.*241T>C rs60985011
NM_006005.3(WFS1):c.*242G>C rs80055761
NM_006005.3(WFS1):c.*253G>A rs1046322
NM_006005.3(WFS1):c.*258A>G rs886059533
NM_006005.3(WFS1):c.*260G>C
NM_006005.3(WFS1):c.*263T>G
NM_006005.3(WFS1):c.*274A>G rs1046325
NM_006005.3(WFS1):c.*288C>T rs56072224
NM_006005.3(WFS1):c.*300A>G
NM_006005.3(WFS1):c.*333C>A rs111800114
NM_006005.3(WFS1):c.*358T>C
NM_006005.3(WFS1):c.*37C>A
NM_006005.3(WFS1):c.*448A>T
NM_006005.3(WFS1):c.*455A>G
NM_006005.3(WFS1):c.*47T>C rs1046317
NM_006005.3(WFS1):c.*506C>T rs886059536
NM_006005.3(WFS1):c.*512C>T rs71528900
NM_006005.3(WFS1):c.*520G>A rs573433508
NM_006005.3(WFS1):c.*526A>C rs886059537
NM_006005.3(WFS1):c.*54A>G rs71526455
NM_006005.3(WFS1):c.*553G>A
NM_006005.3(WFS1):c.*567C>G rs12508118
NM_006005.3(WFS1):c.*604G>C rs9457
NM_006005.3(WFS1):c.*605T>C rs886059538
NM_006005.3(WFS1):c.*637T>C rs71528901
NM_006005.3(WFS1):c.*654G>A rs886059539
NM_006005.3(WFS1):c.*656C>T
NM_006005.3(WFS1):c.*683C>T rs3200
NM_006005.3(WFS1):c.*69C>T
NM_006005.3(WFS1):c.*700C>A rs528424908
NM_006005.3(WFS1):c.*80C>T
NM_006005.3(WFS1):c.*90G>A rs1802453
NM_006005.3(WFS1):c.*91C>T rs1046319
NM_006005.3(WFS1):c.-100C>G rs886059524
NM_006005.3(WFS1):c.-105T>G rs886059523
NM_006005.3(WFS1):c.-106A>G rs868329184
NM_006005.3(WFS1):c.-127A>G
NM_006005.3(WFS1):c.-129A>G rs886059522
NM_006005.3(WFS1):c.-130C>T rs576284630
NM_006005.3(WFS1):c.-133G>T rs886059521
NM_006005.3(WFS1):c.-141A>G rs373287522
NM_006005.3(WFS1):c.-148G>T
NM_006005.3(WFS1):c.-43G>C
NM_006005.3(WFS1):c.-55C>G rs886059525
NM_006005.3(WFS1):c.-6+11C>T rs547998667
NM_006005.3(WFS1):c.-93G>C
NM_006005.3(WFS1):c.1023C>T (p.Phe341=) rs56072215
NM_006005.3(WFS1):c.1024G>A (p.Ala342Thr) rs148028521
NM_006005.3(WFS1):c.1079G>A (p.Cys360Tyr) rs147157374
NM_006005.3(WFS1):c.1099G>A (p.Asp367Asn) rs886059528
NM_006005.3(WFS1):c.1124G>A (p.Arg375His) rs142671083
NM_006005.3(WFS1):c.1134C>A (p.Thr378=) rs71530904
NM_006005.3(WFS1):c.1134C>G (p.Thr378=) rs71530904
NM_006005.3(WFS1):c.1147C>T (p.Arg383Cys)
NM_006005.3(WFS1):c.114C>T (p.Ser38=) rs531593902
NM_006005.3(WFS1):c.1152C>T (p.Phe384=) rs149846741
NM_006005.3(WFS1):c.1153G>A (p.Glu385Lys) rs71524353
NM_006005.3(WFS1):c.115G>A (p.Glu39Lys) rs774330485
NM_006005.3(WFS1):c.1167T>G (p.Asp389Glu) rs201282601
NM_006005.3(WFS1):c.1180G>A (p.Glu394Lys)
NM_006005.3(WFS1):c.1185C>T (p.Val395=) rs1801206
NM_006005.3(WFS1):c.1234G>C (p.Val412Leu) rs149865710
NM_006005.3(WFS1):c.1235T>C (p.Val412Ala) rs144951440
NM_006005.3(WFS1):c.1237TTC[1] (p.Phe414del) rs797046112
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) rs71530923
NM_006005.3(WFS1):c.1263C>T (p.Ile421=) rs748103155
NM_006005.3(WFS1):c.1265C>T (p.Ala422Val) rs150368988
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
NM_006005.3(WFS1):c.1294C>T (p.Leu432=) rs35031397
NM_006005.3(WFS1):c.1297G>A (p.Ala433Thr) rs138771366
NM_006005.3(WFS1):c.1308C>T (p.Thr436=) rs71539646
NM_006005.3(WFS1):c.1309G>A (p.Gly437Ser) rs147974629
NM_006005.3(WFS1):c.1311C>T (p.Gly437=) rs886059529
NM_006005.3(WFS1):c.1316T>G (p.Phe439Cys) rs141585847
NM_006005.3(WFS1):c.132C>T (p.Pro44=) rs754346893
NM_006005.3(WFS1):c.1333C>G (p.Leu445Val) rs764932308
NM_006005.3(WFS1):c.1367G>A (p.Arg456His) rs1801208
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser) rs113446173
NM_006005.3(WFS1):c.1385_1393del (p.Glu462_Thr464del) rs1578609780
NM_006005.3(WFS1):c.1392C>T (p.Thr464=) rs565697340
NM_006005.3(WFS1):c.1396G>A (p.Gly466Ser) rs727503750
NM_006005.3(WFS1):c.1399C>T (p.Leu467=) rs142700542
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe) rs114152068
NM_006005.3(WFS1):c.1500C>T (p.Asn500=) rs1801214
NM_006005.3(WFS1):c.1507G>A (p.Val503Ile) rs573775230
NM_006005.3(WFS1):c.1509C>T (p.Val503=)
NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu) rs28937892
NM_006005.3(WFS1):c.1530C>T (p.Tyr510=) rs35789242
NM_006005.3(WFS1):c.1538A>C (p.Tyr513Ser) rs544933961
NM_006005.3(WFS1):c.1580C>T (p.Thr527Ile)
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser) rs146132083
NM_006005.3(WFS1):c.1610G>A (p.Cys537Tyr) rs199910987
NM_006005.3(WFS1):c.1620G>A (p.Trp540Ter)
NM_006005.3(WFS1):c.1633G>A (p.Val545Met) rs201993978
NM_006005.3(WFS1):c.1656C>T (p.Thr552=) rs141477172
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797
NM_006005.3(WFS1):c.1674C>T (p.Arg558=) rs61735402
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr) rs55814513
NM_006005.3(WFS1):c.1683C>T (p.Ile561=) rs71530906
NM_006005.3(WFS1):c.168C>T (p.Asp56=) rs112598170
NM_006005.3(WFS1):c.1692CCTCTT[1] (p.565LF[1]) rs797046113
NM_006005.3(WFS1):c.1724C>G (p.Ala575Gly) rs71524360
NM_006005.3(WFS1):c.1725C>T (p.Ala575=) rs2230719
NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser) rs1805069
NM_006005.3(WFS1):c.1739T>A (p.Val580Glu)
NM_006005.3(WFS1):c.1758C>T (p.Ala586=) rs145144527
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln) rs71539657
NM_006005.3(WFS1):c.176C>T (p.Ala59Val)
NM_006005.3(WFS1):c.1792G>A (p.Ala598Thr) rs140125843
NM_006005.3(WFS1):c.1797C>A (p.Val599=) rs71524361
NM_006005.3(WFS1):c.1799C>T (p.Thr600Ile) rs886059530
NM_006005.3(WFS1):c.1800C>T (p.Thr600=) rs71524362
NM_006005.3(WFS1):c.1805C>T (p.Ala602Val) rs2230720
NM_006005.3(WFS1):c.1829del (p.Leu610fs) rs1578611240
NM_006005.3(WFS1):c.1831C>T (p.Arg611Cys)
NM_006005.3(WFS1):c.1832G>A (p.Arg611His) rs734312
NM_006005.3(WFS1):c.1846G>T (p.Ala616Ser) rs553336498
NM_006005.3(WFS1):c.1871T>C (p.Val624Ala) rs747477628
NM_006005.3(WFS1):c.1901A>C (p.Lys634Thr) rs104893882
NM_006005.3(WFS1):c.1944G>A (p.Trp648Ter) rs104893879
NM_006005.3(WFS1):c.1949_1950del (p.Tyr650fs)
NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys) rs201064551
NM_006005.3(WFS1):c.1969A>G (p.Met657Val) rs71532861
NM_006005.3(WFS1):c.1986C>T (p.Ser662=)
NM_006005.3(WFS1):c.1993A>C (p.Thr665Pro) rs369656458
NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter) rs771409809
NM_006005.3(WFS1):c.2007T>G (p.Tyr669Ter) rs1443751733
NM_006005.3(WFS1):c.2011G>T (p.Ala671Ser)
NM_006005.3(WFS1):c.2012C>T (p.Ala671Val) rs71530907
NM_006005.3(WFS1):c.2019C>T (p.Cys673=) rs71524375
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755
NM_006005.3(WFS1):c.2026C>T (p.Arg676Cys) rs201623184
NM_006005.3(WFS1):c.2029G>A (p.Ala677Thr) rs757027394
NM_006005.3(WFS1):c.2030C>T (p.Ala677Val)
NM_006005.3(WFS1):c.2040G>A (p.Glu680=) rs375263408
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_006005.3(WFS1):c.2052G>A (p.Ala684=) rs71539668
NM_006005.3(WFS1):c.2054G>A (p.Arg685His) rs142668478
NM_006005.3(WFS1):c.2084G>T (p.Gly695Val) rs28937891
NM_006005.3(WFS1):c.2096C>T (p.Thr699Met) rs28937894
NM_006005.3(WFS1):c.2119G>A (p.Val707Ile) rs71524377
NM_006005.3(WFS1):c.2119G>T (p.Val707Phe) rs71524377
NM_006005.3(WFS1):c.2124C>T (p.Arg708=) rs61735401
NM_006005.3(WFS1):c.2129C>G (p.Thr710Ser)
NM_006005.3(WFS1):c.2135T>C (p.Ile712Thr)
NM_006005.3(WFS1):c.2138A>G (p.Asp713Gly) rs143280847
NM_006005.3(WFS1):c.2146G>A (p.Ala716Thr) rs28937893
NM_006005.3(WFS1):c.2157C>T (p.Ala719=) rs766900991
NM_006005.3(WFS1):c.2171C>T (p.Pro724Leu) rs28937890
NM_006005.3(WFS1):c.2184C>T (p.Gly728=) rs71530908
NM_006005.3(WFS1):c.2191A>G (p.Met731Val) rs144010362
NM_006005.3(WFS1):c.21G>T (p.Pro7=) rs372928810
NM_006005.3(WFS1):c.2205C>T (p.Tyr735=) rs71530911
NM_006005.3(WFS1):c.2208C>T (p.Gly736=) rs141020933
NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys) rs147834269
NM_006005.3(WFS1):c.2224dup (p.Cys742fs) rs1578612324
NM_006005.3(WFS1):c.2225G>A (p.Cys742Tyr)
NM_006005.3(WFS1):c.2246C>T (p.Thr749Met)
NM_006005.3(WFS1):c.2247G>A (p.Thr749=) rs75096624
NM_006005.3(WFS1):c.2250C>T (p.Ala750=) rs369498603
NM_006005.3(WFS1):c.225C>T (p.Asp75=) rs35216268
NM_006005.3(WFS1):c.2263T>C (p.Cys755Arg) rs797045075
NM_006005.3(WFS1):c.227G>T (p.Gly76Val) rs200135768
NM_006005.3(WFS1):c.2285A>G (p.Lys762Arg) rs876658119
NM_006005.3(WFS1):c.2298C>A (p.His766Gln) rs755328574
NM_006005.3(WFS1):c.2322G>A (p.Lys774=) rs2230721
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val) rs56002719
NM_006005.3(WFS1):c.232G>A (p.Gly78Arg)
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) rs141328044
NM_006005.3(WFS1):c.2338G>A (p.Gly780Ser) rs387906931
NM_006005.3(WFS1):c.2340C>A (p.Gly780=) rs886059531
NM_006005.3(WFS1):c.2347T>C (p.Phe783Leu) rs71526461
NM_006005.3(WFS1):c.2356G>A (p.Gly786Ser) rs71578980
NM_006005.3(WFS1):c.2356G>T (p.Gly786Cys)
NM_006005.3(WFS1):c.2369C>A (p.Ser790Ter) rs369107336
NM_006005.3(WFS1):c.2370G>A (p.Ser790=) rs150936382
NM_006005.3(WFS1):c.2371C>T (p.Arg791Cys)
NM_006005.3(WFS1):c.2372G>A (p.Arg791His) rs775659531
NM_006005.3(WFS1):c.2405T>C (p.Ile802Thr)
NM_006005.3(WFS1):c.2424C>T (p.Ser808=) rs56035336
NM_006005.3(WFS1):c.2425G>A (p.Glu809Lys) rs71539673
NM_006005.3(WFS1):c.2433G>A (p.Lys811=) rs1046314
NM_006005.3(WFS1):c.2436C>T (p.Ser812=) rs142630687
NM_006005.3(WFS1):c.2437G>A (p.Val813Met) rs756972444
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) rs35932623
NM_006005.3(WFS1):c.2453G>A (p.Arg818His) rs575851859
NM_006005.3(WFS1):c.2454C>T (p.Arg818=) rs139223980
NM_006005.3(WFS1):c.2455C>T (p.Gln819Ter) rs104893881
NM_006005.3(WFS1):c.2459G>A (p.Gly820Asp) rs764842865
NM_006005.3(WFS1):c.2466C>T (p.Leu822=) rs141669724
NM_006005.3(WFS1):c.2469C>T (p.Ile823=) rs1801215
NM_006005.3(WFS1):c.2477G>A (p.Ser826Asn)
NM_006005.3(WFS1):c.2481C>T (p.Thr827=) rs886059532
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro) rs104893883
NM_006005.3(WFS1):c.2492G>A (p.Gly831Asp) rs28937895
NM_006005.3(WFS1):c.2498T>A (p.Leu833Gln)
NM_006005.3(WFS1):c.2508G>C (p.Lys836Asn) rs876657675
NM_006005.3(WFS1):c.2514T>C (p.Pro838=)
NM_006005.3(WFS1):c.2565A>G (p.Ser855=) rs1046316
NM_006005.3(WFS1):c.2576G>A (p.Arg859Gln) rs121912618
NM_006005.3(WFS1):c.2580C>T (p.His860=) rs754802246
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys) rs74315205
NM_006005.3(WFS1):c.2595C>A (p.His865Gln) rs142469572
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) rs3821945
NM_006005.3(WFS1):c.2603G>A (p.Arg868His) rs56393026
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874
NM_006005.3(WFS1):c.2638_2643del (p.Asp880_Phe881del) rs1272826809
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu) rs372855769
NM_006005.3(WFS1):c.2664G>A (p.Ser888=)
NM_006005.3(WFS1):c.2667G>A (p.Ala889=) rs71526454
NM_006005.3(WFS1):c.28C>T (p.Pro10Ser) rs760256649
NM_006005.3(WFS1):c.315+11C>T rs202232817
NM_006005.3(WFS1):c.320G>A (p.Gly107Glu)
NM_006005.3(WFS1):c.345C>T (p.Gly115=) rs200385504
NM_006005.3(WFS1):c.375C>T (p.Thr125=) rs762324196
NM_006005.3(WFS1):c.400G>A (p.Ala134Thr) rs147724970
NM_006005.3(WFS1):c.402G>A (p.Ala134=) rs199533137
NM_006005.3(WFS1):c.409_424dup (p.Val142fs) rs1362648752
NM_006005.3(WFS1):c.41A>G (p.Gln14Arg) rs142651446
NM_006005.3(WFS1):c.439del (p.Arg147fs) rs1560408865
NM_006005.3(WFS1):c.445T>C (p.Leu149=)
NM_006005.3(WFS1):c.460+1G>A rs1191510461
NM_006005.3(WFS1):c.461-15C>T rs9998519
NM_006005.3(WFS1):c.461-9A>G rs10010131
NM_006005.3(WFS1):c.468G>T (p.Thr156=)
NM_006005.3(WFS1):c.482G>A (p.Arg161Gln) rs115346085
NM_006005.3(WFS1):c.504C>T (p.Ser168=)
NM_006005.3(WFS1):c.510C>G (p.Thr170=) rs151277039
NM_006005.3(WFS1):c.535G>A (p.Ala179Thr) rs776685250
NM_006005.3(WFS1):c.568AAG[3] (p.Lys193del) rs752461187
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699
NM_006005.3(WFS1):c.578dup (p.Gln194fs)
NM_006005.3(WFS1):c.654C>T (p.Pro218=) rs727504666
NM_006005.3(WFS1):c.676C>T (p.Gln226Ter) rs104893880
NM_006005.3(WFS1):c.683G>A (p.Arg228His) rs150771247
NM_006005.3(WFS1):c.684C>G (p.Arg228=) rs1801213
NM_006005.3(WFS1):c.695G>A (p.Arg232His)
NM_006005.3(WFS1):c.70C>T (p.Arg24Cys) rs756667462
NM_006005.3(WFS1):c.712+16G>A rs71524367
NM_006005.3(WFS1):c.713-1075C>G rs6446482
NM_006005.3(WFS1):c.716A>G (p.Lys239Arg) rs727503747
NM_006005.3(WFS1):c.728C>T (p.Ala243Val) rs147147660
NM_006005.3(WFS1):c.804C>T (p.Asp268=)
NM_006005.3(WFS1):c.817G>A (p.Glu273Lys) rs142428158
NM_006005.3(WFS1):c.81C>T (p.Leu27=)
NM_006005.3(WFS1):c.837T>C (p.Pro279=)
NM_006005.3(WFS1):c.854G>A (p.Arg285His) rs61735404
NM_006005.3(WFS1):c.872A>G (p.Tyr291Cys)
NM_006005.3(WFS1):c.873C>G (p.Tyr291Ter) rs777580652
NM_006005.3(WFS1):c.917T>C (p.Met306Thr) rs146114074
NM_006005.3(WFS1):c.930A>G (p.Ala310=) rs115561278
NM_006005.3(WFS1):c.95C>T (p.Ser32Leu) rs727504730
NM_006005.3(WFS1):c.966C>T (p.His322=) rs140196582
NM_006005.3(WFS1):c.985T>A (p.Phe329Ile) rs188848517
NM_006005.3(WFS1):c.997G>A (p.Val333Ile) rs1801212
NM_006005.3(WFS1):c.9C>T (p.Ser3=) rs71524363
V415del
WFS1, 15-BP DEL, NT1685
WFS1, 16-BP DEL, NT1362
WFS1, 2-BP DEL, 2812TC
WFS1, 4-BP DEL, 1387CTCT
WFS1, 7-BP INS, NT1610
WFS1, 8-BP DEL, NT2106

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