ClinVar Miner

Variants in gene WFS1 with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
1146 336 2 127 112 3 26 247

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele uncertain risk allele
pathogenic 0 41 9 0 2 0 0
likely pathogenic 41 0 19 0 0 1 1
uncertain significance 9 19 0 112 13 0 1
likely benign 0 0 112 2 86 0 0
benign 2 0 13 86 0 0 0
likely risk allele 0 1 0 0 0 0 0
uncertain risk allele 0 1 1 0 0 0 0

All variants with conflicting interpretations #

Total variants: 247
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.713-1075C>G rs6446482 0.62564
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.1805C>T (p.Ala602Val) rs2230720 0.02889
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.*131C>T rs55993016 0.01227
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.-6+11C>T rs547998667 0.00469
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.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.1158C>T (p.Pro386=) rs71524354 0.00252
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699 0.00249
NM_006005.3(WFS1):c.2356G>A (p.Gly786Ser) rs71578980 0.00239
NM_006005.3(WFS1):c.2124C>T (p.Arg708=) rs61735401 0.00223
NM_006005.3(WFS1):c.712+16G>A rs71524367 0.00213
NM_006005.3(WFS1):c.854G>A (p.Arg285His) rs61735404 0.00205
NM_006005.3(WFS1):c.482G>A (p.Arg161Gln) rs115346085 0.00204
NM_006005.3(WFS1):c.1554G>A (p.Met518Ile) rs138232538 0.00202
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.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.1143G>A (p.Leu381=) rs151153967 0.00078
NM_006005.3(WFS1):c.1152C>T (p.Phe384=) rs149846741 0.00076
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.363C>T (p.Leu121=) rs140229545 0.00067
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.2627A>C (p.Lys876Thr) rs144900514 0.00045
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.647C>G (p.Pro216Arg) rs141233896 0.00032
NM_006005.3(WFS1):c.594G>A (p.Ala198=) rs563931269 0.00031
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.41A>G (p.Gln14Arg) rs142651446 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.1309G>A (p.Gly437Ser) rs147974629 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.1235T>C (p.Val412Ala) rs144951440 0.00019
NM_006005.3(WFS1):c.1695C>T (p.Leu565=) rs755736687 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.1774C>G (p.Leu592Val) rs759136937 0.00017
NM_006005.3(WFS1):c.975C>T (p.Asn325=) rs141177727 0.00017
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.825G>A (p.Ala275=) rs566634291 0.00016
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.2040G>A (p.Glu680=) rs375263408 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.1173G>A (p.Glu391=) rs202104460 0.00013
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) rs71530923 0.00013
NM_006005.3(WFS1):c.1395C>T (p.Ala465=) rs71530905 0.00012
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.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.342C>T (p.Ala114=) rs201151892 0.00007
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.1836G>A (p.Trp612Ter) rs775158434 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.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.977C>T (p.Ala326Val) rs369795224 0.00006
NM_006005.3(WFS1):c.1673G>A (p.Arg558His) rs774265764 0.00005
NM_006005.3(WFS1):c.498C>G (p.Leu166=) rs758731318 0.00005
NM_006005.3(WFS1):c.505G>A (p.Glu169Lys) rs148953711 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.1949A>G (p.Tyr650Cys) rs765322804 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.631G>A (p.Asp211Asn) rs138682654 0.00004
NM_006005.3(WFS1):c.1263C>T (p.Ile421=) rs748103155 0.00003
NM_006005.3(WFS1):c.143C>T (p.Ala48Val) rs397517195 0.00003
NM_006005.3(WFS1):c.1769C>T (p.Thr590Met) rs760280308 0.00003
NM_006005.3(WFS1):c.2206G>A (p.Gly736Ser) rs71532864 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.2002C>T (p.Gln668Ter) rs1335308693 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.2254G>T (p.Glu752Ter) rs201239579 0.00002
NM_006005.3(WFS1):c.2453G>A (p.Arg818His) rs575851859 0.00002
NM_006005.3(WFS1):c.2576G>A (p.Arg859Gln) rs121912618 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.1015G>A (p.Asp339Asn) rs772392224 0.00001
NM_006005.3(WFS1):c.1037C>T (p.Pro346Leu) rs773900146 0.00001
NM_006005.3(WFS1):c.1082C>T (p.Thr361Ile) rs781575919 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.1511C>T (p.Pro504Leu) rs28937892 0.00001
NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter) rs771409809 0.00001
NM_006005.3(WFS1):c.2108G>A (p.Arg703His) rs1323852277 0.00001
NM_006005.3(WFS1):c.2191A>G (p.Met731Val) rs144010362 0.00001
NM_006005.3(WFS1):c.2263T>C (p.Cys755Arg) rs797045075 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.2416G>C (p.Ala806Pro) rs762075088 0.00001
NM_006005.3(WFS1):c.2454C>T (p.Arg818=) rs139223980 0.00001
NM_006005.3(WFS1):c.376G>A (p.Ala126Thr) rs145639028 0.00001
NM_006005.3(WFS1):c.397G>A (p.Ala133Thr) rs372249044 0.00001
NM_006005.3(WFS1):c.472G>A (p.Glu158Lys) rs567563179 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.1046TCT[1] (p.Phe350del) rs1560418164
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.114C>T (p.Ser38=) rs531593902
NM_006005.3(WFS1):c.1289C>A (p.Ser430Ter)
NM_006005.3(WFS1):c.1289C>T (p.Ser430Leu) rs1235562712
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.132C>T (p.Pro44=) rs754346893
NM_006005.3(WFS1):c.1333C>G (p.Leu445Val) rs764932308
NM_006005.3(WFS1):c.1385_1393del (p.Glu462_Thr464del) rs1578609780
NM_006005.3(WFS1):c.1441_1447dup (p.Val483fs) rs727503745
NM_006005.3(WFS1):c.1511C>G (p.Pro504Arg) rs28937892
NM_006005.3(WFS1):c.1525_1539del (p.Val509_Tyr513del) rs781262017
NM_006005.3(WFS1):c.1543TTC[1] (p.Phe516del) rs777904670
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.1692CCTCTT[1] (p.565LF[1]) rs797046113
NM_006005.3(WFS1):c.169G>T (p.Ala57Ser) rs372783392
NM_006005.3(WFS1):c.1725C>T (p.Ala575=) rs2230719
NM_006005.3(WFS1):c.1797C>A (p.Val599=) rs71524361
NM_006005.3(WFS1):c.1820C>G (p.Pro607Arg) rs373862003
NM_006005.3(WFS1):c.1829del (p.Leu610fs) rs1578611240
NM_006005.3(WFS1):c.1922C>A (p.Thr641Lys) rs376626985
NM_006005.3(WFS1):c.2027G>A (p.Arg676His) rs143055296
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_006005.3(WFS1):c.2061G>C (p.Gln687His) rs760938537
NM_006005.3(WFS1):c.2096C>T (p.Thr699Met) rs28937894
NM_006005.3(WFS1):c.2146G>A (p.Ala716Thr) rs28937893
NM_006005.3(WFS1):c.2158A>G (p.Ile720Val) rs1805070
NM_006005.3(WFS1):c.2189G>A (p.Trp730Ter) rs760171298
NM_006005.3(WFS1):c.2224dup (p.Cys742fs) rs1578612324
NM_006005.3(WFS1):c.2311G>T (p.Asp771Tyr)
NM_006005.3(WFS1):c.2369C>T (p.Ser790Leu) rs369107336
NM_006005.3(WFS1):c.2370G>A (p.Ser790=) rs150936382
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.2387ACG[3] (p.Asp797dup) rs397517197
NM_006005.3(WFS1):c.2389G>A (p.Asp797Asn) rs1553879004
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.2486T>C (p.Leu829Pro) rs104893883
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.2590G>A (p.Glu864Lys) rs74315205
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.350C>T (p.Thr117Met) rs141225426
NM_006005.3(WFS1):c.409_424dup (p.Val142fs) rs1362648752
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.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.631+2T>G rs543866098
NM_006005.3(WFS1):c.654C>T (p.Pro218=) rs727504666
NM_006005.3(WFS1):c.672G>A (p.Gln224=) rs1224486316
NM_006005.3(WFS1):c.831G>A (p.Lys277=) rs532368033
NM_006005.3(WFS1):c.911_914dup (p.Asp305_Met306insTer) rs863224264
NM_006005.3(WFS1):c.937C>T (p.His313Tyr) rs886044563

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