ClinVar Miner

Variants in gene WFS1 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 119
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HGVS dbSNP gnomAD frequency
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) rs35932623 0.00390
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala) rs71524349 0.00279
NM_006005.3(WFS1):c.1554G>A (p.Met518Ile) rs138232538 0.00202
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) rs3821945 0.00185
NM_006005.3(WFS1):c.2052G>A (p.Ala684=) rs71539668 0.00123
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.1152C>T (p.Phe384=) rs149846741 0.00076
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.2627A>C (p.Lys876Thr) rs144900514 0.00045
NM_006005.3(WFS1):c.1706C>T (p.Ala569Val) rs144492050 0.00042
NM_006005.3(WFS1):c.92C>G (p.Ala31Gly) rs550975729 0.00039
NM_006005.3(WFS1):c.647C>G (p.Pro216Arg) rs141233896 0.00032
NM_006005.3(WFS1):c.799G>A (p.Asp267Asn) rs145677667 0.00031
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser) rs113446173 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.1265C>T (p.Ala422Val) rs150368988 0.00029
NM_006005.3(WFS1):c.325C>T (p.His109Tyr) rs112871383 0.00029
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln) rs71539657 0.00028
NM_006005.3(WFS1):c.772G>A (p.Val258Ile) rs757414862 0.00025
NM_006005.3(WFS1):c.2250C>T (p.Ala750=) rs369498603 0.00023
NM_006005.3(WFS1):c.1792G>A (p.Ala598Thr) rs140125843 0.00022
NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys) rs201064551 0.00022
NM_006005.3(WFS1):c.1758C>T (p.Ala586=) rs145144527 0.00021
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.2209G>A (p.Glu737Lys) rs147834269 0.00018
NM_006005.3(WFS1):c.1774C>G (p.Leu592Val) rs759136937 0.00017
NM_006005.3(WFS1):c.975C>T (p.Asn325=) rs141177727 0.00017
NM_006005.3(WFS1):c.1012A>G (p.Ile338Val) rs541594934 0.00015
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.2054G>A (p.Arg685His) rs142668478 0.00014
NM_006005.3(WFS1):c.2398A>G (p.Lys800Glu) rs55674815 0.00014
NM_006005.3(WFS1):c.728C>T (p.Ala243Val) rs147147660 0.00012
NM_006005.3(WFS1):c.1657G>A (p.Gly553Ser) rs150840308 0.00009
NM_006005.3(WFS1):c.173C>T (p.Ala58Val) rs369671890 0.00009
NM_006005.3(WFS1):c.1759C>T (p.Arg587Trp) rs138968466 0.00009
NM_006005.3(WFS1):c.2347T>C (p.Phe783Leu) rs71526461 0.00009
NM_006005.3(WFS1):c.511G>A (p.Asp171Asn) rs758281375 0.00009
NM_006005.3(WFS1):c.976G>A (p.Ala326Thr) rs200790641 0.00009
NM_006005.3(WFS1):c.1148G>A (p.Arg383His) rs369450642 0.00008
NM_006005.3(WFS1):c.343G>A (p.Gly115Ser) rs780727054 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.1135G>A (p.Asp379Asn) rs772554352 0.00006
NM_006005.3(WFS1):c.1392C>T (p.Thr464=) rs565697340 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.1724C>G (p.Ala575Gly) rs71524360 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.231C>T (p.Thr77=) rs372609400 0.00006
NM_006005.3(WFS1):c.2359G>A (p.Ala787Thr) rs571946670 0.00006
NM_006005.3(WFS1):c.28C>T (p.Pro10Ser) rs760256649 0.00006
NM_006005.3(WFS1):c.449C>T (p.Ala150Val) rs113651985 0.00006
NM_006005.3(WFS1):c.504C>T (p.Ser168=) rs71537675 0.00006
NM_006005.3(WFS1):c.444C>T (p.Cys148=) rs998539254 0.00005
NM_006005.3(WFS1):c.498C>G (p.Leu166=) rs758731318 0.00005
NM_006005.3(WFS1):c.888C>A (p.Ile296=) rs772556132 0.00005
NM_006005.3(WFS1):c.1237T>G (p.Phe413Val) rs71524356 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.2185G>A (p.Asp729Asn) rs575778537 0.00004
NM_006005.3(WFS1):c.2664G>A (p.Ser888=) rs756116434 0.00004
NM_006005.3(WFS1):c.375C>T (p.Thr125=) rs762324196 0.00004
NM_006005.3(WFS1):c.1263C>T (p.Ile421=) rs748103155 0.00003
NM_006005.3(WFS1):c.1769C>T (p.Thr590Met) rs760280308 0.00003
NM_006005.3(WFS1):c.817G>A (p.Glu273Lys) rs142428158 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.2157C>T (p.Ala719=) rs766900991 0.00002
NM_006005.3(WFS1):c.2453G>A (p.Arg818His) rs575851859 0.00002
NM_006005.3(WFS1):c.345C>T (p.Gly115=) rs200385504 0.00002
NM_006005.3(WFS1):c.*14C>T rs775493668 0.00001
NM_006005.3(WFS1):c.1234G>C (p.Val412Leu) rs149865710 0.00001
NM_006005.3(WFS1):c.125G>A (p.Arg42Gln) rs750806151 0.00001
NM_006005.3(WFS1):c.1416C>A (p.Pro472=) rs530734300 0.00001
NM_006005.3(WFS1):c.143C>T (p.Ala48Val) rs397517195 0.00001
NM_006005.3(WFS1):c.2191A>G (p.Met731Val) rs144010362 0.00001
NM_006005.3(WFS1):c.228C>T (p.Gly76=) rs751073426 0.00001
NM_006005.3(WFS1):c.2380G>A (p.Glu794Lys) rs201078003 0.00001
NM_006005.3(WFS1):c.2413C>T (p.Arg805Trp) rs763107032 0.00001
NM_006005.3(WFS1):c.2454C>T (p.Arg818=) rs139223980 0.00001
NM_006005.3(WFS1):c.2612T>G (p.Val871Gly) rs764211494 0.00001
NM_006005.3(WFS1):c.2623G>A (p.Val875Met) rs547459104 0.00001
NM_006005.3(WFS1):c.693G>A (p.Glu231=) rs149479911 0.00001
NM_006005.3(WFS1):c.804C>T (p.Asp268=) rs199741678 0.00001
NM_006005.3(WFS1):c.1134C>G (p.Thr378=) rs71530904
NM_006005.3(WFS1):c.114C>T (p.Ser38=) rs531593902
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.154C>A (p.Pro52Thr) rs111773340
NM_006005.3(WFS1):c.1653C>A (p.Ser551=) rs766730980
NM_006005.3(WFS1):c.1681A>G (p.Ile561Val) rs766673431
NM_006005.3(WFS1):c.169G>T (p.Ala57Ser) rs372783392
NM_006005.3(WFS1):c.2027G>A (p.Arg676His) rs143055296
NM_006005.3(WFS1):c.2369C>T (p.Ser790Leu) rs369107336
NM_006005.3(WFS1):c.2370G>C (p.Ser790=) rs150936382
NM_006005.3(WFS1):c.2385G>A (p.Glu795=) rs373310972
NM_006005.3(WFS1):c.2406C>G (p.Ile802Met) rs201102144
NM_006005.3(WFS1):c.2432A>G (p.Lys811Arg) rs557048986
NM_006005.3(WFS1):c.2466C>T (p.Leu822=) rs141669724
NM_006005.3(WFS1):c.2481C>T (p.Thr827=) rs886059532
NM_006005.3(WFS1):c.2514T>C (p.Pro838=) rs773643250
NM_006005.3(WFS1):c.2563_2565delinsCCG (p.Ser855Pro) rs1560422132
NM_006005.3(WFS1):c.2580C>T (p.His860=) rs754802246
NM_006005.3(WFS1):c.468G>T (p.Thr156=) rs201145164
NM_006005.3(WFS1):c.47C>T (p.Pro16Leu) rs34653805
NM_006005.3(WFS1):c.615C>T (p.Gly205=) rs954971844
NM_006005.3(WFS1):c.630C>T (p.His210=) rs144851092
NM_006005.3(WFS1):c.654C>T (p.Pro218=) rs727504666
NM_006005.3(WFS1):c.672G>A (p.Gln224=) rs1224486316

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