ClinVar Miner

List of variants in gene WFS1 reported as uncertain significance for WFS1-Related Spectrum Disorders

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Total variants: 119
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HGVS dbSNP gnomAD frequency
NM_006005.3(WFS1):c.1554G>A (p.Met518Ile) rs138232538 0.00202
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.966C>T (p.His322=) rs140196582 0.00083
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.1597C>T (p.Pro533Ser) rs146132083 0.00076
NM_006005.3(WFS1):c.1153G>A (p.Glu385Lys) rs71524353 0.00057
NM_006005.3(WFS1):c.*520G>A rs573433508 0.00051
NM_006005.3(WFS1):c.2424C>T (p.Ser808=) rs56035336 0.00048
NM_006005.3(WFS1):c.*366_*369del rs71537671 0.00032
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.1265C>T (p.Ala422Val) rs150368988 0.00029
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln) rs71539657 0.00028
NM_006005.3(WFS1):c.*455A>G rs756674774 0.00024
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.400G>A (p.Ala134Thr) rs147724970 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.1831C>T (p.Arg611Cys) rs144993516 0.00014
NM_006005.3(WFS1):c.728C>T (p.Ala243Val) rs147147660 0.00012
NM_006005.3(WFS1):c.985T>A (p.Phe329Ile) rs188848517 0.00011
NM_006005.3(WFS1):c.1969A>G (p.Met657Val) rs71532861 0.00010
NM_006005.3(WFS1):c.2603G>A (p.Arg868His) rs56393026 0.00010
NM_006005.3(WFS1):c.695G>A (p.Arg232His) rs375904080 0.00010
NM_006005.3(WFS1):c.1871T>C (p.Val624Ala) rs747477628 0.00009
NM_006005.3(WFS1):c.2347T>C (p.Phe783Leu) rs71526461 0.00009
NM_006005.3(WFS1):c.2119G>A (p.Val707Ile) rs71524377 0.00007
NM_006005.3(WFS1):c.*654G>A rs886059539 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.1836G>A (p.Trp612Ter) rs775158434 0.00006
NM_006005.3(WFS1):c.2026C>T (p.Arg676Cys) rs201623184 0.00006
NM_006005.3(WFS1):c.2208C>T (p.Gly736=) rs141020933 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.*158G>A rs548892128 0.00005
NM_006005.3(WFS1):c.1147C>T (p.Arg383Cys) rs759466443 0.00005
NM_006005.3(WFS1):c.*506C>T rs886059536 0.00004
NM_006005.3(WFS1):c.1180G>A (p.Glu394Lys) rs373146435 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.1993A>C (p.Thr665Pro) rs369656458 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.*605T>C rs886059538 0.00003
NM_006005.3(WFS1):c.*700C>A rs528424908 0.00003
NM_006005.3(WFS1):c.1263C>T (p.Ile421=) rs748103155 0.00003
NM_006005.3(WFS1):c.1538A>C (p.Tyr513Ser) rs544933961 0.00003
NM_006005.3(WFS1):c.2011G>T (p.Ala671Ser) rs763020615 0.00003
NM_006005.3(WFS1):c.2138A>G (p.Asp713Gly) rs143280847 0.00003
NM_006005.3(WFS1):c.2225G>A (p.Cys742Tyr) rs775216682 0.00003
NM_006005.3(WFS1):c.95C>T (p.Ser32Leu) rs727504730 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.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.2576G>A (p.Arg859Gln) rs121912618 0.00002
NM_006005.3(WFS1):c.345C>T (p.Gly115=) rs200385504 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.115G>A (p.Glu39Lys) rs774330485 0.00001
NM_006005.3(WFS1):c.1234G>C (p.Val412Leu) rs149865710 0.00001
NM_006005.3(WFS1):c.176C>T (p.Ala59Val) rs71524365 0.00001
NM_006005.3(WFS1):c.1986C>T (p.Ser662=) rs1055393876 0.00001
NM_006005.3(WFS1):c.2129C>G (p.Thr710Ser) rs200136995 0.00001
NM_006005.3(WFS1):c.2285A>G (p.Lys762Arg) rs876658119 0.00001
NM_006005.3(WFS1):c.2454C>T (p.Arg818=) rs139223980 0.00001
NM_006005.3(WFS1):c.804C>T (p.Asp268=) rs199741678 0.00001
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>A rs904935032
NM_006005.3(WFS1):c.*683delinsTGGCTGTGGGGGA rs886059540
NM_006005.3(WFS1):c.*724_*727del rs71537674
NM_006005.3(WFS1):c.-43G>C rs1578579501
NM_006005.3(WFS1):c.-55C>G rs886059525
NM_006005.3(WFS1):c.1099G>A (p.Asp367Asn) rs886059528
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.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.1509C>T (p.Val503=) rs1267751619
NM_006005.3(WFS1):c.1739T>A (p.Val580Glu) rs140773453
NM_006005.3(WFS1):c.1799C>T (p.Thr600Ile) rs886059530
NM_006005.3(WFS1):c.2030C>T (p.Ala677Val) rs1730936563
NM_006005.3(WFS1):c.2135T>C (p.Ile712Thr) rs1730943627
NM_006005.3(WFS1):c.2298C>A (p.His766Gln) rs755328574
NM_006005.3(WFS1):c.2340C>A (p.Gly780=) rs886059531
NM_006005.3(WFS1):c.2356G>T (p.Gly786Cys) rs71578980
NM_006005.3(WFS1):c.2372G>A (p.Arg791His) rs775659531
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.2481C>T (p.Thr827=) rs886059532
NM_006005.3(WFS1):c.2514T>C (p.Pro838=) rs773643250
NM_006005.3(WFS1):c.2580C>T (p.His860=) rs754802246
NM_006005.3(WFS1):c.2595C>A (p.His865Gln) rs142469572
NM_006005.3(WFS1):c.445T>C (p.Leu149=) rs1730394064
NM_006005.3(WFS1):c.468G>T (p.Thr156=) rs201145164
NM_006005.3(WFS1):c.654C>T (p.Pro218=) rs727504666
NM_006005.3(WFS1):c.70C>T (p.Arg24Cys) rs756667462
NM_006005.3(WFS1):c.81C>T (p.Leu27=) rs777168956
NM_006005.3(WFS1):c.837T>C (p.Pro279=) rs762770133
NM_006005.3(WFS1):c.872A>G (p.Tyr291Cys) rs1730845682
NM_006005.3(WFS1):c.911_914dup (p.Asp305_Met306insTer) rs863224264

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