ClinVar Miner

List of variants in gene WFS1 studied for Wolfram syndrome 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 512
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HGVS dbSNP gnomAD frequency
NM_006005.3(WFS1):c.997G>A (p.Val333Ile) rs1801212 0.80149
NM_006005.3(WFS1):c.684C>G (p.Arg228=) rs1801213 0.68223
NM_006005.3(WFS1):c.713-783G>A rs4689395 0.63899
NM_006005.3(WFS1):c.461-208G>C rs11732208 0.63585
NM_006005.3(WFS1):c.713-1341C>G rs6838400 0.63540
NM_006005.3(WFS1):c.712+195C>G rs11725500 0.63296
NM_006005.3(WFS1):c.461-9A>G rs10010131 0.63169
NM_006005.3(WFS1):c.713-1185C>A rs6446481 0.63035
NM_006005.3(WFS1):c.713-1203C>T rs6446480 0.62693
NM_006005.3(WFS1):c.713-1075C>G rs6446482 0.62564
NM_006005.3(WFS1):c.461-15C>T rs9998519 0.62200
NM_006005.3(WFS1):c.461-281G>C rs11732178 0.59793
NM_006005.3(WFS1):c.232+90G>A rs28420833 0.59278
NM_006005.3(WFS1):c.862-164C>G rs4688991 0.58956
NM_006005.3(WFS1):c.862-185C>T rs4689398 0.58804
NM_006005.3(WFS1):c.*683C>T rs3200 0.57543
NM_006005.3(WFS1):c.1185C>T (p.Val395=) rs1801206 0.56648
NM_006005.3(WFS1):c.1832G>A (p.Arg611His) rs734312 0.43085
NM_006005.3(WFS1):c.713-1018A>G rs6820509 0.40867
NM_006005.3(WFS1):c.713-915C>T rs73071607 0.16041
NM_006005.3(WFS1):c.713-993C>T rs28729642 0.11722
NM_006005.3(WFS1):c.*274A>G rs1046325 0.08190
NM_006005.3(WFS1):c.2322G>A (p.Lys774=) rs2230721 0.06809
NM_006005.3(WFS1):c.713-1360G>A rs61251604 0.05371
NM_006005.3(WFS1):c.*241T>C rs60985011 0.05284
NM_006005.3(WFS1):c.1367G>A (p.Arg456His) rs1801208 0.04977
NM_006005.3(WFS1):c.1023C>T (p.Phe341=) rs56072215 0.04932
NM_006005.3(WFS1):c.316-235C>G rs56141488 0.04351
NM_006005.3(WFS1):c.713-945A>G rs116109951 0.03694
NM_006005.3(WFS1):c.713-1219C>T rs112592966 0.03211
NM_006005.3(WFS1):c.1805C>T (p.Ala602Val) rs2230720 0.02889
NM_006005.3(WFS1):c.316-164A>G rs111852841 0.02863
NM_006005.3(WFS1):c.*567C>G rs12508118 0.02697
NM_006005.3(WFS1):c.*333C>A rs111800114 0.02051
NM_006005.3(WFS1):c.631+164G>C rs71539643 0.01831
NM_006005.3(WFS1):c.*637T>C rs71528901 0.01713
NM_006005.3(WFS1):c.*54A>G rs71526455 0.01704
NM_006005.3(WFS1):c.*512C>T rs71528900 0.01701
NM_006005.3(WFS1):c.2019C>T (p.Cys673=) rs71524375 0.01683
NM_006005.3(WFS1):c.2469C>T (p.Ile823=) rs1801215 0.01494
NM_006005.3(WFS1):c.9C>T (p.Ser3=) rs71524363 0.01435
NM_006005.3(WFS1):c.713-231G>A rs112272637 0.01258
NM_006005.3(WFS1):c.*131C>T rs55993016 0.01227
NM_006005.3(WFS1):c.461-91G>A rs71539642 0.01155
NM_006005.3(WFS1):c.1800C>T (p.Thr600=) rs71524362 0.01070
NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser) rs1805069 0.01068
NM_006005.3(WFS1):c.930A>G (p.Ala310=) rs115561278 0.00845
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe) rs114152068 0.00810
NM_006005.3(WFS1):c.1308C>T (p.Thr436=) rs71539646 0.00773
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874 0.00761
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) rs141328044 0.00672
NM_006005.3(WFS1):c.2247G>A (p.Thr749=) rs75096624 0.00513
NM_006005.3(WFS1):c.*242G>C rs80055761 0.00471
NM_006005.3(WFS1):c.-6+11C>T rs547998667 0.00469
NM_006005.3(WFS1):c.-264A>G rs71537683 0.00428
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr) rs55814513 0.00396
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) rs35932623 0.00390
NM_006005.3(WFS1):c.917T>C (p.Met306Thr) rs146114074 0.00389
NM_006005.3(WFS1):c.225C>T (p.Asp75=) rs35216268 0.00366
NM_006005.3(WFS1):c.*358T>C rs71530919 0.00289
NM_006005.3(WFS1):c.1674C>T (p.Arg558=) rs61735402 0.00269
NM_006005.3(WFS1):c.*69C>T rs71530916 0.00257
NM_006005.3(WFS1):c.1158C>T (p.Pro386=) rs71524354 0.00252
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699 0.00249
NM_006005.3(WFS1):c.*288C>T rs56072224 0.00248
NM_006005.3(WFS1):c.2356G>A (p.Gly786Ser) rs71578980 0.00239
NM_006005.3(WFS1):c.712+16G>A rs71524367 0.00213
NM_006005.3(WFS1):c.227G>T (p.Gly76Val) rs200135768 0.00197
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) rs3821945 0.00185
NM_006005.3(WFS1):c.1530C>T (p.Tyr510=) rs35789242 0.00183
NM_006005.3(WFS1):c.1277G>A (p.Cys426Tyr) rs35218685 0.00160
NM_006005.3(WFS1):c.1491C>T (p.Val497=) rs148310584 0.00151
NM_006005.3(WFS1):c.2052G>A (p.Ala684=) rs71539668 0.00123
NM_006005.3(WFS1):c.96G>A (p.Ser32=) rs71539660 0.00106
NM_006005.3(WFS1):c.1321G>A (p.Val441Met) rs150894674 0.00094
NM_006005.3(WFS1):c.1683C>T (p.Ile561=) rs71530906 0.00086
NM_006005.3(WFS1):c.2184C>T (p.Gly728=) rs71530908 0.00084
NM_006005.3(WFS1):c.966C>T (p.His322=) rs140196582 0.00083
NM_006005.3(WFS1):c.631+12C>T rs183980454 0.00082
NM_006005.3(WFS1):c.*448A>T rs113513950 0.00076
NM_006005.3(WFS1):c.1152C>T (p.Phe384=) rs149846741 0.00076
NM_006005.3(WFS1):c.2233G>A (p.Gly745Ser) rs139185707 0.00068
NM_006005.3(WFS1):c.363C>T (p.Leu121=) rs140229545 0.00067
NM_006005.3(WFS1):c.*80C>T rs183014938 0.00065
NM_006005.3(WFS1):c.1779G>C (p.Glu593Asp) rs144783536 0.00063
NM_006005.3(WFS1):c.*520G>A rs573433508 0.00051
NM_006005.3(WFS1):c.2039A>C (p.Glu680Ala) rs144840779 0.00050
NM_006005.3(WFS1):c.*263T>G rs571223325 0.00048
NM_006005.3(WFS1):c.2424C>T (p.Ser808=) rs56035336 0.00048
NM_006005.3(WFS1):c.2085C>T (p.Gly695=) rs150568382 0.00043
NM_006005.3(WFS1):c.1706C>T (p.Ala569Val) rs144492050 0.00042
NM_006005.3(WFS1):c.2202C>T (p.Leu734=) rs140427062 0.00041
NM_006005.3(WFS1):c.402G>A (p.Ala134=) rs199533137 0.00040
NM_006005.3(WFS1):c.92C>G (p.Ala31Gly) rs550975729 0.00039
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_006005.3(WFS1):c.*366_*369del rs71537671 0.00032
NM_006005.3(WFS1):c.647C>G (p.Pro216Arg) rs141233896 0.00032
NM_006005.3(WFS1):c.1693C>G (p.Leu565Val) rs200058166 0.00031
NM_006005.3(WFS1):c.594G>A (p.Ala198=) rs563931269 0.00031
NM_006005.3(WFS1):c.*300A>G rs541125786 0.00030
NM_006005.3(WFS1):c.2436C>T (p.Ser812=) rs142630687 0.00030
NM_006005.3(WFS1):c.1024G>A (p.Ala342Thr) rs148028521 0.00029
NM_006005.3(WFS1):c.1079G>A (p.Cys360Tyr) rs147157374 0.00029
NM_006005.3(WFS1):c.1265C>T (p.Ala422Val) rs150368988 0.00029
NM_006005.3(WFS1):c.325C>T (p.His109Tyr) rs112871383 0.00029
NM_006005.3(WFS1):c.1470C>T (p.Thr490=) rs146027767 0.00025
NM_006005.3(WFS1):c.772G>A (p.Val258Ile) rs757414862 0.00025
NM_006005.3(WFS1):c.*455A>G rs756674774 0.00024
NM_006005.3(WFS1):c.1419C>T (p.Ser473=) rs150997327 0.00024
NM_006005.3(WFS1):c.2250C>T (p.Ala750=) rs369498603 0.00023
NM_006005.3(WFS1):c.2364C>T (p.Asp788=) rs144030395 0.00023
NM_006005.3(WFS1):c.1792G>A (p.Ala598Thr) rs140125843 0.00022
NM_006005.3(WFS1):c.1302C>T (p.Val434=) rs142745931 0.00021
NM_006005.3(WFS1):c.1758C>T (p.Ala586=) rs145144527 0.00021
NM_006005.3(WFS1):c.2012C>T (p.Ala671Val) rs71530907 0.00021
NM_006005.3(WFS1):c.2563T>C (p.Ser855Pro) rs141833472 0.00021
NM_006005.3(WFS1):c.1632C>T (p.Ser544=) rs140115060 0.00020
NM_006005.3(WFS1):c.2053C>T (p.Arg685Cys) rs112967046 0.00020
NM_006005.3(WFS1):c.712+8C>T rs369185545 0.00020
NM_006005.3(WFS1):c.762C>T (p.Tyr254=) rs140266808 0.00020
NM_006005.3(WFS1):c.1235T>C (p.Val412Ala) rs144951440 0.00019
NM_006005.3(WFS1):c.1695C>T (p.Leu565=) rs755736687 0.00019
NM_006005.3(WFS1):c.2466C>A (p.Leu822=) rs141669724 0.00019
NM_006005.3(WFS1):c.1923G>A (p.Thr641=) rs139040290 0.00018
NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys) rs147834269 0.00018
NM_006005.3(WFS1):c.2622C>T (p.Ala874=) rs141052196 0.00018
NM_006005.3(WFS1):c.1755C>T (p.Phe585=) rs1801210 0.00017
NM_006005.3(WFS1):c.975C>T (p.Asn325=) rs141177727 0.00017
NM_006005.3(WFS1):c.1441C>T (p.Leu481=) rs727504663 0.00016
NM_006005.3(WFS1):c.2013G>A (p.Ala671=) rs147262416 0.00016
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755 0.00016
NM_006005.3(WFS1):c.471C>T (p.Ser157=) rs71524347 0.00016
NM_006005.3(WFS1):c.801C>T (p.Asp267=) rs147734431 0.00016
NM_006005.3(WFS1):c.825G>A (p.Ala275=) rs566634291 0.00016
NM_006005.3(WFS1):c.2667G>A (p.Ala889=) rs71526454 0.00015
NM_006005.3(WFS1):c.1399C>T (p.Leu467=) rs142700542 0.00014
NM_006005.3(WFS1):c.1893C>T (p.Ser631=) rs773312242 0.00014
NM_006005.3(WFS1):c.2040G>A (p.Glu680=) rs375263408 0.00014
NM_006005.3(WFS1):c.1173G>A (p.Glu391=) rs202104460 0.00013
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) rs71530923 0.00013
NM_006005.3(WFS1):c.2610C>T (p.Thr870=) rs727503754 0.00013
NM_006005.3(WFS1):c.1395C>T (p.Ala465=) rs71530905 0.00012
NM_006005.3(WFS1):c.1984T>C (p.Ser662Pro) rs376341411 0.00012
NM_006005.3(WFS1):c.1195T>G (p.Trp399Gly) rs767561828 0.00011
NM_006005.3(WFS1):c.1817T>G (p.Val606Gly) rs756252214 0.00011
NM_006005.3(WFS1):c.1969A>G (p.Met657Val) rs71532861 0.00010
NM_006005.3(WFS1):c.2298C>T (p.His766=) rs755328574 0.00010
NM_006005.3(WFS1):c.695G>A (p.Arg232His) rs375904080 0.00010
NM_006005.3(WFS1):c.1452T>G (p.Leu484=) rs371470711 0.00009
NM_006005.3(WFS1):c.1657G>A (p.Gly553Ser) rs150840308 0.00009
NM_006005.3(WFS1):c.1770G>A (p.Thr590=) rs71532858 0.00009
NM_006005.3(WFS1):c.2248G>A (p.Ala750Thr) rs201335980 0.00009
NM_006005.3(WFS1):c.2347T>C (p.Phe783Leu) rs71526461 0.00009
NM_006005.3(WFS1):c.2631C>T (p.Phe877=) rs370347920 0.00009
NM_006005.3(WFS1):c.315+12G>A rs370922505 0.00009
NM_006005.3(WFS1):c.747G>A (p.Glu249=) rs752638064 0.00009
NM_006005.3(WFS1):c.976G>A (p.Ala326Thr) rs200790641 0.00009
NM_006005.3(WFS1):c.2103C>T (p.Thr701=) rs113800346 0.00008
NM_006005.3(WFS1):c.2134A>G (p.Ile712Val) rs574657627 0.00008
NM_006005.3(WFS1):c.129A>T (p.Ala43=) rs566876793 0.00007
NM_006005.3(WFS1):c.1740G>T (p.Val580=) rs749882923 0.00007
NM_006005.3(WFS1):c.2119G>A (p.Val707Ile) rs71524377 0.00007
NM_006005.3(WFS1):c.2171C>T (p.Pro724Leu) rs28937890 0.00007
NM_006005.3(WFS1):c.21G>T (p.Pro7=) rs372928810 0.00007
NM_006005.3(WFS1):c.291C>T (p.Ala97=) rs148404077 0.00007
NM_006005.3(WFS1):c.342C>T (p.Ala114=) rs201151892 0.00007
NM_006005.3(WFS1):c.396C>T (p.Leu132=) rs369759802 0.00007
NM_006005.3(WFS1):c.726C>T (p.Ile242=) rs71524381 0.00007
NM_006005.3(WFS1):c.792C>G (p.Phe264Leu) rs373669861 0.00007
NM_006005.3(WFS1):c.*654G>A rs886059539 0.00006
NM_006005.3(WFS1):c.1135G>A (p.Asp379Asn) rs772554352 0.00006
NM_006005.3(WFS1):c.1191C>T (p.Phe397=) rs201394228 0.00006
NM_006005.3(WFS1):c.1392C>T (p.Thr464=) rs565697340 0.00006
NM_006005.3(WFS1):c.1479C>T (p.Val493=) rs750126396 0.00006
NM_006005.3(WFS1):c.1580C>T (p.Thr527Ile) rs372663248 0.00006
NM_006005.3(WFS1):c.1656C>T (p.Thr552=) rs141477172 0.00006
NM_006005.3(WFS1):c.1791C>T (p.Ile597=) rs141883293 0.00006
NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln) rs146670741 0.00006
NM_006005.3(WFS1):c.2181C>T (p.Ile727=) rs140286718 0.00006
NM_006005.3(WFS1):c.2208C>T (p.Gly736=) rs141020933 0.00006
NM_006005.3(WFS1):c.2310C>T (p.Phe770=) rs34384569 0.00006
NM_006005.3(WFS1):c.231C>T (p.Thr77=) rs372609400 0.00006
NM_006005.3(WFS1):c.2358C>T (p.Gly786=) rs139236812 0.00006
NM_006005.3(WFS1):c.2414G>A (p.Arg805Gln) rs140667597 0.00006
NM_006005.3(WFS1):c.2445C>G (p.Leu815=) rs376195481 0.00006
NM_006005.3(WFS1):c.28C>T (p.Pro10Ser) rs760256649 0.00006
NM_006005.3(WFS1):c.504C>T (p.Ser168=) rs71537675 0.00006
NM_006005.3(WFS1):c.642G>A (p.Ala214=) rs761245713 0.00006
NM_006005.3(WFS1):c.69G>A (p.Ala23=) rs750859280 0.00006
NM_006005.3(WFS1):c.*158G>A rs548892128 0.00005
NM_006005.3(WFS1):c.-27C>T rs527868928 0.00005
NM_006005.3(WFS1):c.2397C>G (p.Thr799=) rs747760206 0.00005
NM_006005.3(WFS1):c.477C>T (p.Asn159=) rs753964845 0.00005
NM_006005.3(WFS1):c.498C>G (p.Leu166=) rs758731318 0.00005
NM_006005.3(WFS1):c.56C>T (p.Pro19Leu) rs376335216 0.00005
NM_006005.3(WFS1):c.*506C>T rs886059536 0.00004
NM_006005.3(WFS1):c.1080C>T (p.Cys360=) rs771284690 0.00004
NM_006005.3(WFS1):c.1219C>T (p.His407Tyr) rs151244358 0.00004
NM_006005.3(WFS1):c.1237T>G (p.Phe413Val) rs71524356 0.00004
NM_006005.3(WFS1):c.1242C>T (p.Phe414=) rs376646736 0.00004
NM_006005.3(WFS1):c.1320C>T (p.Thr440=) rs762339922 0.00004
NM_006005.3(WFS1):c.1393G>A (p.Ala465Thr) rs71524357 0.00004
NM_006005.3(WFS1):c.1507G>A (p.Val503Ile) rs573775230 0.00004
NM_006005.3(WFS1):c.168C>T (p.Asp56=) rs112598170 0.00004
NM_006005.3(WFS1):c.1743C>T (p.Gly581=) rs377539343 0.00004
NM_006005.3(WFS1):c.1801G>A (p.Val601Met) rs147838635 0.00004
NM_006005.3(WFS1):c.1929C>T (p.Ile643=) rs544473222 0.00004
NM_006005.3(WFS1):c.2029G>A (p.Ala677Thr) rs757027394 0.00004
NM_006005.3(WFS1):c.2107C>T (p.Arg703Cys) rs201888856 0.00004
NM_006005.3(WFS1):c.2299A>C (p.Ile767Leu) rs779199009 0.00004
NM_006005.3(WFS1):c.2334C>T (p.Thr778=) rs71526460 0.00004
NM_006005.3(WFS1):c.2355C>T (p.Ser785=) rs201731358 0.00004
NM_006005.3(WFS1):c.2607C>T (p.Ser869=) rs1410561677 0.00004
NM_006005.3(WFS1):c.2664G>A (p.Ser888=) rs756116434 0.00004
NM_006005.3(WFS1):c.315+11C>T rs202232817 0.00004
NM_006005.3(WFS1):c.375C>T (p.Thr125=) rs762324196 0.00004
NM_006005.3(WFS1):c.*605T>C rs886059538 0.00003
NM_006005.3(WFS1):c.*700C>A rs528424908 0.00003
NM_006005.3(WFS1):c.1125C>T (p.Arg375=) rs778100722 0.00003
NM_006005.3(WFS1):c.1184T>A (p.Val395Asp) rs769744865 0.00003
NM_006005.3(WFS1):c.1263C>T (p.Ile421=) rs748103155 0.00003
NM_006005.3(WFS1):c.133G>A (p.Gly45Arg) rs1014892217 0.00003
NM_006005.3(WFS1):c.143C>T (p.Ala48Val) rs397517195 0.00003
NM_006005.3(WFS1):c.1467C>G (p.Ile489Met) rs768029820 0.00003
NM_006005.3(WFS1):c.1680C>T (p.Ser560=) rs760906868 0.00003
NM_006005.3(WFS1):c.1717C>G (p.Leu573Val) rs749172015 0.00003
NM_006005.3(WFS1):c.1761G>C (p.Arg587=) rs35568345 0.00003
NM_006005.3(WFS1):c.1769C>T (p.Thr590Met) rs760280308 0.00003
NM_006005.3(WFS1):c.1824G>A (p.Leu608=) rs1224321509 0.00003
NM_006005.3(WFS1):c.1884G>A (p.Thr628=) rs71532860 0.00003
NM_006005.3(WFS1):c.2011G>T (p.Ala671Ser) rs763020615 0.00003
NM_006005.3(WFS1):c.2164A>G (p.Met722Val) rs778958194 0.00003
NM_006005.3(WFS1):c.2206G>A (p.Gly736Ser) rs71532864 0.00003
NM_006005.3(WFS1):c.2225G>A (p.Cys742Tyr) rs775216682 0.00003
NM_006005.3(WFS1):c.2406C>T (p.Ile802=) rs201102144 0.00003
NM_006005.3(WFS1):c.2560C>T (p.Leu854Phe) rs771391168 0.00003
NM_006005.3(WFS1):c.399C>T (p.Ala133=) rs757294266 0.00003
NM_006005.3(WFS1):c.787C>T (p.Leu263=) rs749765315 0.00003
NM_006005.3(WFS1):c.95C>T (p.Ser32Leu) rs727504730 0.00003
NM_006005.3(WFS1):c.991T>A (p.Phe331Ile) rs144888979 0.00003
NM_006005.3(WFS1):c.1290G>A (p.Ser430=) rs752100338 0.00002
NM_006005.3(WFS1):c.1425C>T (p.Pro475=) rs370846103 0.00002
NM_006005.3(WFS1):c.1676C>T (p.Ala559Val) rs773343292 0.00002
NM_006005.3(WFS1):c.1863G>C (p.Val621=) rs779337227 0.00002
NM_006005.3(WFS1):c.1896G>T (p.Met632Ile) rs1057524890 0.00002
NM_006005.3(WFS1):c.1935G>T (p.Leu645=) rs727504912 0.00002
NM_006005.3(WFS1):c.2007T>G (p.Tyr669Ter) rs1443751733 0.00002
NM_006005.3(WFS1):c.2157C>T (p.Ala719=) rs766900991 0.00002
NM_006005.3(WFS1):c.2246C>T (p.Thr749Met) rs199769524 0.00002
NM_006005.3(WFS1):c.232G>A (p.Gly78Arg) rs777964510 0.00002
NM_006005.3(WFS1):c.2453G>A (p.Arg818His) rs575851859 0.00002
NM_006005.3(WFS1):c.2470G>A (p.Glu824Lys) rs367547063 0.00002
NM_006005.3(WFS1):c.2540G>A (p.Cys847Tyr) rs1394576939 0.00002
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu) rs372855769 0.00002
NM_006005.3(WFS1):c.345C>T (p.Gly115=) rs200385504 0.00002
NM_006005.3(WFS1):c.412C>T (p.Arg138Cys) rs780394696 0.00002
NM_006005.3(WFS1):c.57G>A (p.Pro19=) rs1282394241 0.00002
NM_006005.3(WFS1):c.727G>A (p.Ala243Thr) rs760226129 0.00002
NM_006005.3(WFS1):c.981C>T (p.Leu327=) rs1257021150 0.00002
NM_006005.3(WFS1):c.*11C>G rs919707549 0.00001
NM_006005.3(WFS1):c.*14C>T rs775493668 0.00001
NM_006005.3(WFS1):c.*223C>G rs905909594 0.00001
NM_006005.3(WFS1):c.*258A>G rs886059533 0.00001
NM_006005.3(WFS1):c.*37C>A rs1312854010 0.00001
NM_006005.3(WFS1):c.*656C>T rs772538455 0.00001
NM_006005.3(WFS1):c.-4C>T rs746340627 0.00001
NM_006005.3(WFS1):c.1015G>A (p.Asp339Asn) rs772392224 0.00001
NM_006005.3(WFS1):c.1037C>T (p.Pro346Leu) rs773900146 0.00001
NM_006005.3(WFS1):c.1088A>C (p.Lys363Thr) rs1386447227 0.00001
NM_006005.3(WFS1):c.1103G>A (p.Ser368Asn) rs397517194 0.00001
NM_006005.3(WFS1):c.1106A>C (p.Lys369Thr) rs766169444 0.00001
NM_006005.3(WFS1):c.1122C>G (p.Phe374Leu) rs1235126935 0.00001
NM_006005.3(WFS1):c.115G>A (p.Glu39Lys) rs774330485 0.00001
NM_006005.3(WFS1):c.1204C>T (p.Leu402=) rs766786172 0.00001
NM_006005.3(WFS1):c.1236C>T (p.Val412=) rs753290200 0.00001
NM_006005.3(WFS1):c.125G>A (p.Arg42Gln) rs750806151 0.00001
NM_006005.3(WFS1):c.1335G>C (p.Leu445=) rs1426049330 0.00001
NM_006005.3(WFS1):c.1396G>A (p.Gly466Ser) rs727503750 0.00001
NM_006005.3(WFS1):c.1416C>A (p.Pro472=) rs530734300 0.00001
NM_006005.3(WFS1):c.1433G>A (p.Trp478Ter) rs377726402 0.00001
NM_006005.3(WFS1):c.1510C>A (p.Pro504Thr) rs1064797305 0.00001
NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu) rs28937892 0.00001
NM_006005.3(WFS1):c.1536C>T (p.Leu512=) rs199728640 0.00001
NM_006005.3(WFS1):c.1560G>A (p.Gln520=) rs776513501 0.00001
NM_006005.3(WFS1):c.1623T>G (p.Cys541Trp) rs745712429 0.00001
NM_006005.3(WFS1):c.176C>T (p.Ala59Val) rs71524365 0.00001
NM_006005.3(WFS1):c.1799C>G (p.Thr600Ser) rs886059530 0.00001
NM_006005.3(WFS1):c.1837T>G (p.Trp613Gly) rs1730924133 0.00001
NM_006005.3(WFS1):c.1944G>A (p.Trp648Ter) rs104893879 0.00001
NM_006005.3(WFS1):c.1986C>T (p.Ser662=) rs1055393876 0.00001
NM_006005.3(WFS1):c.2074C>T (p.His692Tyr) rs1131691259 0.00001
NM_006005.3(WFS1):c.2129C>G (p.Thr710Ser) rs200136995 0.00001
NM_006005.3(WFS1):c.2175C>G (p.Phe725Leu) rs375880230 0.00001
NM_006005.3(WFS1):c.2182G>A (p.Gly728Ser) rs202195756 0.00001
NM_006005.3(WFS1):c.2191A>G (p.Met731Val) rs144010362 0.00001
NM_006005.3(WFS1):c.2192T>C (p.Met731Thr) rs146418094 0.00001
NM_006005.3(WFS1):c.2263T>C (p.Cys755Arg) rs797045075 0.00001
NM_006005.3(WFS1):c.2285A>G (p.Lys762Arg) rs876658119 0.00001
NM_006005.3(WFS1):c.2286G>A (p.Lys762=) rs200663929 0.00001
NM_006005.3(WFS1):c.234G>C (p.Gly78=) rs1205134261 0.00001
NM_006005.3(WFS1):c.2380G>A (p.Glu794Lys) rs201078003 0.00001
NM_006005.3(WFS1):c.2388C>T (p.Asp796=) rs71532868 0.00001
NM_006005.3(WFS1):c.2454C>T (p.Arg818=) rs139223980 0.00001
NM_006005.3(WFS1):c.2532C>T (p.Ala844=) rs767155345 0.00001
NM_006005.3(WFS1):c.2549G>A (p.Cys850Tyr) rs748404777 0.00001
NM_006005.3(WFS1):c.2555_2560dup (p.Gln853_Leu854insProGln) rs730880368 0.00001
NM_006005.3(WFS1):c.2623G>A (p.Val875Met) rs547459104 0.00001
NM_006005.3(WFS1):c.2625G>A (p.Val875=) rs1264608390 0.00001
NM_006005.3(WFS1):c.376G>A (p.Ala126Thr) rs145639028 0.00001
NM_006005.3(WFS1):c.382G>T (p.Asp128Tyr) rs71524350 0.00001
NM_006005.3(WFS1):c.397G>A (p.Ala133Thr) rs372249044 0.00001
NM_006005.3(WFS1):c.535G>A (p.Ala179Thr) rs776685250 0.00001
NM_006005.3(WFS1):c.543G>C (p.Leu181=) rs376651857 0.00001
NM_006005.3(WFS1):c.578A>G (p.Lys193Arg) rs1005714777 0.00001
NM_006005.3(WFS1):c.601C>A (p.Leu201Met) rs529580583 0.00001
NM_006005.3(WFS1):c.631+5G>A rs863224261 0.00001
NM_006005.3(WFS1):c.634G>A (p.Gly212Arg) rs1216952842 0.00001
NM_006005.3(WFS1):c.712+1G>T rs1281745640 0.00001
NM_006005.3(WFS1):c.716A>G (p.Lys239Arg) rs727503747 0.00001
NM_006005.3(WFS1):c.804C>T (p.Asp268=) rs199741678 0.00001
NM_006005.3(WFS1):c.816C>T (p.Asp272=) rs762774307 0.00001
NM_006005.3(WFS1):c.83A>G (p.Asn28Ser) rs397517198 0.00001
NM_006005.3(WFS1):c.883G>A (p.Ala295Thr) rs537052067 0.00001
NM_006005.3(WFS1):c.994A>T (p.Ile332Phe) rs564413149 0.00001
NC_000004.12:g.6304102C>A rs754802246
NM_006005.3(WFS1):c.*260G>C rs71530909
NM_006005.3(WFS1):c.*356_*357insTT rs568320906
NM_006005.3(WFS1):c.*357CTTT[2] rs373643818
NM_006005.3(WFS1):c.*365_*369del rs886059535
NM_006005.3(WFS1):c.*526A>C rs886059537
NM_006005.3(WFS1):c.*553G>C rs904935032
NM_006005.3(WFS1):c.*683delinsTGTGGGGGA rs886059540
NM_006005.3(WFS1):c.*724_*727del rs71537674
NM_006005.3(WFS1):c.-43G>C rs1578579501
NM_006005.3(WFS1):c.-55C>T rs886059525
NM_006005.3(WFS1):c.1008_1018del (p.Thr337fs) rs2109125157
NM_006005.3(WFS1):c.1014C>G (p.Ile338Met) rs748353498
NM_006005.3(WFS1):c.1020C>T (p.Phe340=) rs876658117
NM_006005.3(WFS1):c.1024_1032dup (p.Phe344_Ile345insAlaPhePhe)
NM_006005.3(WFS1):c.1038G>A (p.Pro346=) rs143886476
NM_006005.3(WFS1):c.1046TCT[1] (p.Phe350del) rs1560418164
NM_006005.3(WFS1):c.1089G>A (p.Lys363=) rs1553878342
NM_006005.3(WFS1):c.1099G>T (p.Asp367Tyr) rs886059528
NM_006005.3(WFS1):c.1107_1108insA (p.Ala370fs) rs2109125327
NM_006005.3(WFS1):c.1112G>A (p.Trp371Ter)
NM_006005.3(WFS1):c.1134C>A (p.Thr378=) rs71530904
NM_006005.3(WFS1):c.1142T>C (p.Leu381Pro) rs797046111
NM_006005.3(WFS1):c.1149C>T (p.Arg383=) rs1560418384
NM_006005.3(WFS1):c.114C>T (p.Ser38=) rs531593902
NM_006005.3(WFS1):c.115G>T (p.Glu39Ter) rs774330485
NM_006005.3(WFS1):c.1162C>G (p.Leu388Val) rs1578609065
NM_006005.3(WFS1):c.1180G>T (p.Glu394Ter) rs373146435
NM_006005.3(WFS1):c.1192G>A (p.Gly398Ser) rs863224269
NM_006005.3(WFS1):c.1194C>T (p.Gly398=) rs143633587
NM_006005.3(WFS1):c.1210C>G (p.Pro404Ala) rs756869880
NM_006005.3(WFS1):c.1230_1233del (p.Val412fs) rs760337383
NM_006005.3(WFS1):c.1233T>G (p.Ser411=) rs760897070
NM_006005.3(WFS1):c.1243_1245del (p.Val415del) rs863224265
NM_006005.3(WFS1):c.124del (p.Arg42fs) rs1064796781
NM_006005.3(WFS1):c.1261A>G (p.Ile421Val) rs727503749
NM_006005.3(WFS1):c.128C>T (p.Ala43Val) rs727503746
NM_006005.3(WFS1):c.1291G>C (p.Glu431Gln) rs2109125661
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
NM_006005.3(WFS1):c.1311C>T (p.Gly437=) rs886059529
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.1350T>C (p.His450=) rs1057521190
NM_006005.3(WFS1):c.1362C>G (p.Tyr454Ter) rs1043668392
NM_006005.3(WFS1):c.1362_1377del (p.Pro453_Tyr454insTer) rs1730884546
NM_006005.3(WFS1):c.1382C>T (p.Thr461Ile) rs71530925
NM_006005.3(WFS1):c.1385_1393del (p.Glu462_Thr464del) rs1578609780
NM_006005.3(WFS1):c.1439A>G (p.Tyr480Cys)
NM_006005.3(WFS1):c.1441_1447dup (p.Val483fs) rs727503745
NM_006005.3(WFS1):c.1461C>T (p.Thr487=) rs771363371
NM_006005.3(WFS1):c.1468A>G (p.Thr490Ala) rs1553878548
NM_006005.3(WFS1):c.1491_1492insT (p.Val498fs)
NM_006005.3(WFS1):c.1503C>T (p.Val501=) rs768245959
NM_006005.3(WFS1):c.1509C>T (p.Val503=) rs1267751619
NM_006005.3(WFS1):c.1523A>G (p.Tyr508Cys) rs1477371498
NM_006005.3(WFS1):c.1523_1524del (p.Tyr508fs)
NM_006005.3(WFS1):c.1525_1539del (p.Val509_Tyr513del) rs781262017
NM_006005.3(WFS1):c.154C>A (p.Pro52Thr) rs111773340
NM_006005.3(WFS1):c.1572C>G (p.Phe524Leu) rs1553878608
NM_006005.3(WFS1):c.1607T>A (p.Val536Glu) rs1553878625
NM_006005.3(WFS1):c.1613T>C (p.Phe538Ser) rs1560419651
NM_006005.3(WFS1):c.1620G>A (p.Trp540Ter) rs1038816435
NM_006005.3(WFS1):c.1627C>T (p.Leu543Phe)
NM_006005.3(WFS1):c.1653C>T (p.Ser551=) rs766730980
NM_006005.3(WFS1):c.1684G>C (p.Gly562Arg) rs753237278
NM_006005.3(WFS1):c.1692CCTCTT[1] (p.565LF[1]) rs797046113
NM_006005.3(WFS1):c.169G>A (p.Ala57Thr) rs372783392
NM_006005.3(WFS1):c.172G>A (p.Ala58Thr) rs1057524887
NM_006005.3(WFS1):c.1739T>A (p.Val580Glu) rs140773453
NM_006005.3(WFS1):c.1797C>A (p.Val599=) rs71524361
NM_006005.3(WFS1):c.1806G>A (p.Ala602=) rs142295878
NM_006005.3(WFS1):c.1818G>A (p.Val606=) rs1553878726
NM_006005.3(WFS1):c.1829del (p.Leu610fs) rs1578611240
NM_006005.3(WFS1):c.1831_1832delinsTA (p.Arg611Tyr) rs863224266
NM_006005.3(WFS1):c.1836G>C (p.Trp612Cys) rs775158434
NM_006005.3(WFS1):c.1838G>A (p.Trp613Ter) rs762467865
NM_006005.3(WFS1):c.1868T>A (p.Met623Lys) rs758746685
NM_006005.3(WFS1):c.1917G>A (p.Trp639Ter)
NM_006005.3(WFS1):c.1930G>A (p.Val644Met) rs141570700
NM_006005.3(WFS1):c.1936_1943del (p.Phe646fs) rs71524374
NM_006005.3(WFS1):c.1943G>A (p.Trp648Ter) rs150465110
NM_006005.3(WFS1):c.1947C>G (p.Phe649Leu) rs886044044
NM_006005.3(WFS1):c.1949_1950del (p.Tyr650fs) rs1730930342
NM_006005.3(WFS1):c.1961C>G (p.Ser654Ter) rs1189512943
NM_006005.3(WFS1):c.1991T>G (p.Leu664Arg)
NM_006005.3(WFS1):c.2001G>A (p.Gln667=) rs769778558
NM_006005.3(WFS1):c.2006A>G (p.Tyr669Cys) rs1402999203
NM_006005.3(WFS1):c.2030C>G (p.Ala677Gly) rs1730936563
NM_006005.3(WFS1):c.2032T>G (p.Trp678Gly) rs1578611784
NM_006005.3(WFS1):c.2041A>G (p.Thr681Ala) rs1353393888
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_006005.3(WFS1):c.2061G>T (p.Gln687His) rs760938537
NM_006005.3(WFS1):c.2082G>C (p.Glu694Asp) rs751270928
NM_006005.3(WFS1):c.2084G>T (p.Gly695Val) rs28937891
NM_006005.3(WFS1):c.2135T>C (p.Ile712Thr) rs1730943627
NM_006005.3(WFS1):c.2141_2164del (p.Asn714_Asn721del)
NM_006005.3(WFS1):c.2183G>A (p.Gly728Asp) rs1560421124
NM_006005.3(WFS1):c.2189G>A (p.Trp730Ter) rs760171298
NM_006005.3(WFS1):c.2197T>G (p.Cys733Gly) rs2109127192
NM_006005.3(WFS1):c.2201T>A (p.Leu734His) rs1409267086
NM_006005.3(WFS1):c.2205C>G (p.Tyr735Ter) rs71530911
NM_006005.3(WFS1):c.2208_2211del (p.Glu737fs) rs1064797306
NM_006005.3(WFS1):c.2224dup (p.Cys742fs) rs1578612324
NM_006005.3(WFS1):c.2278C>A (p.Leu760Met) rs1553878931
NM_006005.3(WFS1):c.2293T>C (p.Cys765Arg) rs727503752
NM_006005.3(WFS1):c.2296C>T (p.His766Tyr) rs1553878946
NM_006005.3(WFS1):c.2298C>A (p.His766Gln) rs755328574
NM_006005.3(WFS1):c.2323T>G (p.Phe775Val) rs727503753
NM_006005.3(WFS1):c.2337G>A (p.Val779=) rs1299034736
NM_006005.3(WFS1):c.2340C>A (p.Gly780=) rs886059531
NM_006005.3(WFS1):c.2350A>C (p.Ser784Arg) rs1560421590
NM_006005.3(WFS1):c.2369C>G (p.Ser790Trp) rs369107336
NM_006005.3(WFS1):c.2370G>A (p.Ser790=) rs150936382
NM_006005.3(WFS1):c.2372G>A (p.Arg791His) rs775659531
NM_006005.3(WFS1):c.2389G>A (p.Asp797Asn) rs1553879004
NM_006005.3(WFS1):c.2390_2391insACG (p.Asp797delinsGluArg) rs863225126
NM_006005.3(WFS1):c.2405T>C (p.Ile802Thr) rs1730963697
NM_006005.3(WFS1):c.2430C>G (p.Phe810Leu) rs1553879021
NM_006005.3(WFS1):c.2455C>G (p.Gln819Glu) rs104893881
NM_006005.3(WFS1):c.2455C>T (p.Gln819Ter) rs104893881
NM_006005.3(WFS1):c.2459G>T (p.Gly820Val) rs764842865
NM_006005.3(WFS1):c.2477G>A (p.Ser826Asn) rs1730968028
NM_006005.3(WFS1):c.2480C>T (p.Thr827Ile) rs1730968164
NM_006005.3(WFS1):c.2481C>T (p.Thr827=) rs886059532
NM_006005.3(WFS1):c.2484C>A (p.Ile828=) rs779957380
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro) rs104893883
NM_006005.3(WFS1):c.2514T>C (p.Pro838=) rs773643250
NM_006005.3(WFS1):c.2516T>C (p.Val839Ala) rs761114952
NM_006005.3(WFS1):c.2563_2565delinsCCG (p.Ser855Pro) rs1560422132
NM_006005.3(WFS1):c.2570C>T (p.Thr857Ile) rs573202595
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys) rs74315205
NM_006005.3(WFS1):c.2595C>T (p.His865=) rs142469572
NM_006005.3(WFS1):c.2600G>A (p.Trp867Ter) rs1553879087
NM_006005.3(WFS1):c.2632G>A (p.Ala878Thr) rs570527044
NM_006005.3(WFS1):c.2638G>A (p.Asp880Asn) rs776324301
NM_006005.3(WFS1):c.2638_2643del (p.Asp880_Phe881del) rs1272826809
NM_006005.3(WFS1):c.2643_2644del (p.Phe883fs) rs863224268
NM_006005.3(WFS1):c.2643_2646del (p.Phe882fs) rs1560422383
NM_006005.3(WFS1):c.2648_2651del (p.Phe883fs) rs797045076
NM_006005.3(WFS1):c.2651T>A (p.Phe884Tyr) rs863224263
NM_006005.3(WFS1):c.2663C>A (p.Ser888Ter) rs547089139
NM_006005.3(WFS1):c.316-14T>G rs749922151
NM_006005.3(WFS1):c.320G>A (p.Gly107Glu) rs71530914
NM_006005.3(WFS1):c.330C>A (p.Tyr110Ter) rs1553876668
NM_006005.3(WFS1):c.361C>A (p.Leu121Ile) rs1553876675
NM_006005.3(WFS1):c.387G>A (p.Trp129Ter) rs764993824
NM_006005.3(WFS1):c.409_424dup (p.Val142fs) rs1362648752
NM_006005.3(WFS1):c.417C>T (p.Arg139=) rs377209139
NM_006005.3(WFS1):c.436C>T (p.Arg146Cys) rs1553876694
NM_006005.3(WFS1):c.439del (p.Arg147fs) rs1560408865
NM_006005.3(WFS1):c.445T>C (p.Leu149=) rs1730394064
NM_006005.3(WFS1):c.460+1G>A rs1191510461
NM_006005.3(WFS1):c.460+1G>C
NM_006005.3(WFS1):c.461-166_461-165insCA rs56102017
NM_006005.3(WFS1):c.461-169_461-168insAGGAGCATG rs55640037
NM_006005.3(WFS1):c.468G>A (p.Thr156=) rs201145164
NM_006005.3(WFS1):c.510C>G (p.Thr170=) rs151277039
NM_006005.3(WFS1):c.528_531dup (p.Lys178fs) rs2109116580
NM_006005.3(WFS1):c.529C>T (p.Arg177Cys) rs760631912
NM_006005.3(WFS1):c.568AAG[3] (p.Lys193del) rs752461187
NM_006005.3(WFS1):c.578dup (p.Gln194fs) rs779272128
NM_006005.3(WFS1):c.605A>G (p.Glu202Gly) rs1064794257
NM_006005.3(WFS1):c.615C>T (p.Gly205=) rs954971844
NM_006005.3(WFS1):c.61C>G (p.Pro21Ala) rs757447631
NM_006005.3(WFS1):c.632-5T>C rs1578597647
NM_006005.3(WFS1):c.654C>T (p.Pro218=) rs727504666
NM_006005.3(WFS1):c.667C>A (p.Leu223Met) rs1057524889
NM_006005.3(WFS1):c.676C>T (p.Gln226Ter) rs104893880
NM_006005.3(WFS1):c.70C>T (p.Arg24Cys) rs756667462
NM_006005.3(WFS1):c.713-1024A>T rs28625666
NM_006005.3(WFS1):c.713-1317A>T rs10937720
NM_006005.3(WFS1):c.754A>G (p.Lys252Glu) rs1553877330
NM_006005.3(WFS1):c.771C>T (p.Gly257=) rs747170989
NM_006005.3(WFS1):c.81C>G (p.Leu27=) rs777168956
NM_006005.3(WFS1):c.831G>A (p.Lys277=) rs532368033
NM_006005.3(WFS1):c.837T>G (p.Pro279=) rs762770133
NM_006005.3(WFS1):c.872A>G (p.Tyr291Cys) rs1730845682
NM_006005.3(WFS1):c.873C>T (p.Tyr291=) rs777580652
NM_006005.3(WFS1):c.881A>T (p.His294Leu) rs727503748
NM_006005.3(WFS1):c.884C>G (p.Ala295Gly) rs1310473702
NM_006005.3(WFS1):c.889A>G (p.Met297Val) rs1553878254
NM_006005.3(WFS1):c.901G>A (p.Glu301Lys) rs1560417758
NM_006005.3(WFS1):c.924C>T (p.Ser308=) rs763063215
NM_006005.3(WFS1):c.955A>T (p.Ile319Phe) rs914996283
NM_006005.3(WFS1):c.958C>T (p.Pro320Ser) rs1553878280
NM_006005.3(WFS1):c.968A>T (p.His323Leu) rs1057368575
NM_006005.3(WFS1):c.996C>T (p.Ile332=) rs138674328
NM_006005.3(WFS1):c.[2119G>T;2649del]

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