ClinVar Miner

List of variants in gene WFS1 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
ClinVar version:
Total variants: 142
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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.2565A>G (p.Ser855=) rs1046316 0.70506
NM_006005.3(WFS1):c.684C>G (p.Arg228=) rs1801213 0.68223
NM_006005.3(WFS1):c.1500C>T (p.Asn500=) rs1801214 0.63787
NM_006005.3(WFS1):c.461-9A>G rs10010131 0.63169
NM_006005.3(WFS1):c.461-15C>T rs9998519 0.62200
NM_006005.3(WFS1):c.2433G>A (p.Lys811=) rs1046314 0.57941
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.2322G>A (p.Lys774=) rs2230721 0.06809
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.1805C>T (p.Ala602Val) rs2230720 0.02889
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.930A>G (p.Ala310=) rs115561278 0.00845
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.2452C>T (p.Arg818Cys) rs35932623 0.00390
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val) rs56002719 0.00354
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala) rs71524349 0.00279
NM_006005.3(WFS1):c.2205C>T (p.Tyr735=) rs71530911 0.00274
NM_006005.3(WFS1):c.1674C>T (p.Arg558=) rs61735402 0.00269
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699 0.00249
NM_006005.3(WFS1):c.2124C>T (p.Arg708=) rs61735401 0.00223
NM_006005.3(WFS1):c.854G>A (p.Arg285His) rs61735404 0.00205
NM_006005.3(WFS1):c.227G>T (p.Gly76Val) rs200135768 0.00197
NM_006005.3(WFS1):c.1530C>T (p.Tyr510=) rs35789242 0.00183
NM_006005.3(WFS1):c.1491C>T (p.Val497=) rs148310584 0.00151
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.683G>A (p.Arg228His) rs150771247 0.00090
NM_006005.3(WFS1):c.2195G>A (p.Arg732His) rs149013740 0.00083
NM_006005.3(WFS1):c.966C>T (p.His322=) rs140196582 0.00083
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser) rs146132083 0.00076
NM_006005.3(WFS1):c.2233G>A (p.Gly745Ser) rs139185707 0.00068
NM_006005.3(WFS1):c.1779G>C (p.Glu593Asp) rs144783536 0.00063
NM_006005.3(WFS1):c.1153G>A (p.Glu385Lys) rs71524353 0.00057
NM_006005.3(WFS1):c.2039A>C (p.Glu680Ala) rs144840779 0.00050
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.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser) rs113446173 0.00030
NM_006005.3(WFS1):c.41A>G (p.Gln14Arg) rs142651446 0.00028
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.1957C>T (p.Arg653Cys) rs201064551 0.00022
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.2466C>A (p.Leu822=) rs141669724 0.00019
NM_006005.3(WFS1):c.2622C>T (p.Ala874=) rs141052196 0.00018
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.2122C>T (p.Arg708Cys) rs200099217 0.00016
NM_006005.3(WFS1):c.2494C>T (p.Arg832Cys) rs148089728 0.00016
NM_006005.3(WFS1):c.825G>A (p.Ala275=) rs566634291 0.00016
NM_006005.3(WFS1):c.2040G>A (p.Glu680=) rs375263408 0.00014
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) rs71530923 0.00013
NM_006005.3(WFS1):c.1492G>A (p.Val498Ile) rs71524358 0.00013
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.437G>A (p.Arg146His) rs34446752 0.00011
NM_006005.3(WFS1):c.1734C>T (p.Ala578=) rs964981863 0.00010
NM_006005.3(WFS1):c.2347T>C (p.Phe783Leu) rs71526461 0.00009
NM_006005.3(WFS1):c.21G>T (p.Pro7=) rs372928810 0.00007
NM_006005.3(WFS1):c.342C>T (p.Ala114=) rs201151892 0.00007
NM_006005.3(WFS1):c.792C>G (p.Phe264Leu) rs373669861 0.00007
NM_006005.3(WFS1):c.1316T>G (p.Phe439Cys) rs141585847 0.00006
NM_006005.3(WFS1):c.1366C>T (p.Arg456Cys) rs144452795 0.00006
NM_006005.3(WFS1):c.1580C>T (p.Thr527Ile) rs372663248 0.00006
NM_006005.3(WFS1):c.1791C>T (p.Ile597=) rs141883293 0.00006
NM_006005.3(WFS1):c.2208C>T (p.Gly736=) rs141020933 0.00006
NM_006005.3(WFS1):c.1673G>A (p.Arg558His) rs774265764 0.00005
NM_006005.3(WFS1):c.2397C>G (p.Thr799=) rs747760206 0.00005
NM_006005.3(WFS1):c.505G>A (p.Glu169Lys) rs148953711 0.00005
NM_006005.3(WFS1):c.1320C>T (p.Thr440=) rs762339922 0.00004
NM_006005.3(WFS1):c.2355C>T (p.Ser785=) rs201731358 0.00004
NM_006005.3(WFS1):c.2663C>T (p.Ser888Leu) rs547089139 0.00004
NM_006005.3(WFS1):c.613G>A (p.Gly205Ser) rs770713329 0.00004
NM_006005.3(WFS1):c.1008C>G (p.Leu336=) rs755063164 0.00003
NM_006005.3(WFS1):c.1883C>T (p.Thr628Met) rs368236000 0.00003
NM_006005.3(WFS1):c.1884G>A (p.Thr628=) rs71532860 0.00003
NM_006005.3(WFS1):c.417C>G (p.Arg139=) rs377209139 0.00003
NM_006005.3(WFS1):c.1425C>T (p.Pro475=) rs370846103 0.00002
NM_006005.3(WFS1):c.2379C>T (p.Arg793=) rs563113081 0.00002
NM_006005.3(WFS1):c.2576G>A (p.Arg859Gln) rs121912618 0.00002
NM_006005.3(WFS1):c.1506C>T (p.Ser502=) rs773684789 0.00001
NM_006005.3(WFS1):c.1731G>A (p.Leu577=) rs760031371 0.00001
NM_006005.3(WFS1):c.1833C>T (p.Arg611=) rs769265736 0.00001
NM_006005.3(WFS1):c.1837T>G (p.Trp613Gly) rs1730924133 0.00001
NM_006005.3(WFS1):c.2028C>T (p.Arg676=) rs201878061 0.00001
NM_006005.3(WFS1):c.2623G>A (p.Val875Met) rs547459104 0.00001
NM_006005.3(WFS1):c.634G>A (p.Gly212Arg) rs1216952842 0.00001
NM_006005.3(WFS1):c.830A>G (p.Lys277Arg) rs753193877 0.00001
NM_006005.3(WFS1):c.*9C>T
NM_006005.3(WFS1):c.1012A>C (p.Ile338Leu)
NM_006005.3(WFS1):c.1063A>G (p.Ile355Val)
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.1192G>A (p.Gly398Ser) rs863224269
NM_006005.3(WFS1):c.1217C>A (p.Ala406Asp)
NM_006005.3(WFS1):c.1218C>T (p.Ala406=)
NM_006005.3(WFS1):c.1230_1233del (p.Val412fs) rs760337383
NM_006005.3(WFS1):c.1243_1245del (p.Val415del) rs863224265
NM_006005.3(WFS1):c.1294C>T (p.Leu432=) rs35031397
NM_006005.3(WFS1):c.132C>A (p.Pro44=) rs754346893
NM_006005.3(WFS1):c.1359C>T (p.Pro453=)
NM_006005.3(WFS1):c.1439A>G (p.Tyr480Cys)
NM_006005.3(WFS1):c.1452T>C (p.Leu484=) rs371470711
NM_006005.3(WFS1):c.1536_1549dup (p.Arg517fs)
NM_006005.3(WFS1):c.1565G>T (p.Arg522Met)
NM_006005.3(WFS1):c.1725C>T (p.Ala575=) rs2230719
NM_006005.3(WFS1):c.1826T>A (p.Leu609Gln)
NM_006005.3(WFS1):c.1922C>T (p.Thr641Met) rs376626985
NM_006005.3(WFS1):c.2033G>A (p.Trp678Ter)
NM_006005.3(WFS1):c.2083G>A (p.Gly695Ser)
NM_006005.3(WFS1):c.2154T>C (p.Ser718=)
NM_006005.3(WFS1):c.2158A>G (p.Ile720Val) rs1805070
NM_006005.3(WFS1):c.2387ACG[3] (p.Asp797dup) rs397517197
NM_006005.3(WFS1):c.2389G>A (p.Asp797Asn) rs1553879004
NM_006005.3(WFS1):c.2466C>T (p.Leu822=) rs141669724
NM_006005.3(WFS1):c.2614_2625del (p.His872_Val875del)
NM_006005.3(WFS1):c.350C>T (p.Thr117Met) rs141225426
NM_006005.3(WFS1):c.476A>G (p.Asn159Ser)
NM_006005.3(WFS1):c.478G>A (p.Glu160Lys)
NM_006005.3(WFS1):c.510C>T (p.Thr170=) rs151277039
NM_006005.3(WFS1):c.541C>T (p.Leu181=)
NM_006005.3(WFS1):c.596A>G (p.Glu199Gly)
NM_006005.3(WFS1):c.631+4C>T rs377209257
NM_006005.3(WFS1):c.654C>T (p.Pro218=) rs727504666
NM_006005.3(WFS1):c.683_684delinsTG (p.Arg228Leu)
NM_006005.3(WFS1):c.857T>C (p.Leu286Pro)
NM_006005.3(WFS1):c.894G>A (p.Glu298=)
NM_006005.3(WFS1):c.906C>T (p.Tyr302=)
NM_006005.3(WFS1):c.911_914dup (p.Asp305_Met306insTer) rs863224264
NM_006005.3(WFS1):c.929C>T (p.Ala310Val)
NM_006005.3(WFS1):c.950C>G (p.Thr317Ser)
NM_006005.3(WFS1):c.973A>G (p.Asn325Asp)
NM_006005.3(WFS1):c.976G>T (p.Ala326Ser)

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