ClinVar Miner

List of variants in gene WFS1 reported as pathogenic for Wolfram syndrome

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 64
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755 0.00016
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) rs71530923 0.00013
NM_006005.3(WFS1):c.2171C>T (p.Pro724Leu) rs28937890 0.00007
NM_006005.3(WFS1):c.2107C>T (p.Arg703Cys) rs201888856 0.00004
NM_006005.3(WFS1):c.1839G>A (p.Trp613Ter) rs143064649 0.00003
NM_006005.3(WFS1):c.2206G>A (p.Gly736Ser) rs71532864 0.00003
NM_006005.3(WFS1):c.1956C>G (p.Tyr652Ter) rs772357412 0.00002
NM_006005.3(WFS1):c.2007T>G (p.Tyr669Ter) rs1443751733 0.00002
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu) rs372855769 0.00002
NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu) rs28937892 0.00001
NM_006005.3(WFS1):c.1944G>A (p.Trp648Ter) rs104893879 0.00001
NM_006005.3(WFS1):c.376G>A (p.Ala126Thr) rs145639028 0.00001
NM_006005.3(WFS1):c.712+1G>T rs1281745640 0.00001
NM_006005.3(WFS1):c.76C>T (p.Arg26Ter) rs747658523 0.00001
NM_006005.3(WFS1):c.1008_1018del (p.Thr337fs) rs2109125157
NM_006005.3(WFS1):c.1107_1108insA (p.Ala370fs) rs2109125327
NM_006005.3(WFS1):c.1112G>A (p.Trp371Ter)
NM_006005.3(WFS1):c.1180G>T (p.Glu394Ter) rs373146435
NM_006005.3(WFS1):c.1230_1233del (p.Val412fs) rs760337383
NM_006005.3(WFS1):c.1234_1237del (p.Val412fs) rs763677869
NM_006005.3(WFS1):c.1243_1245del (p.Val415del) rs863224265
NM_006005.3(WFS1):c.124del (p.Arg42fs) rs1064796781
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.1385_1393del (p.Glu462_Thr464del) rs1578609780
NM_006005.3(WFS1):c.1441_1447dup (p.Val483fs) rs727503745
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.1558C>T (p.Gln520Ter) rs377544135
NM_006005.3(WFS1):c.1620G>A (p.Trp540Ter) rs1038816435
NM_006005.3(WFS1):c.1692CCTCTT[1] (p.565LF[1]) rs797046113
NM_006005.3(WFS1):c.1829del (p.Leu610fs) rs1578611240
NM_006005.3(WFS1):c.1838G>A (p.Trp613Ter) rs762467865
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.1949_1950del (p.Tyr650fs) rs1730930342
NM_006005.3(WFS1):c.1961C>G (p.Ser654Ter) rs1189512943
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_006005.3(WFS1):c.2084G>T (p.Gly695Val) rs28937891
NM_006005.3(WFS1):c.2189G>A (p.Trp730Ter) rs760171298
NM_006005.3(WFS1):c.2205C>G (p.Tyr735Ter) rs71530911
NM_006005.3(WFS1):c.2224dup (p.Cys742fs) rs1578612324
NM_006005.3(WFS1):c.2369C>A (p.Ser790Ter) rs369107336
NM_006005.3(WFS1):c.2455C>T (p.Gln819Ter) rs104893881
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro) rs104893883
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys) rs74315205
NM_006005.3(WFS1):c.2600G>A (p.Trp867Ter) rs1553879087
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.2648_2651del (p.Phe883fs) rs797045076
NM_006005.3(WFS1):c.2663C>A (p.Ser888Ter) rs547089139
NM_006005.3(WFS1):c.330C>A (p.Tyr110Ter) rs1553876668
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.439del (p.Arg147fs) rs1560408865
NM_006005.3(WFS1):c.460+1G>A rs1191510461
NM_006005.3(WFS1):c.460+1G>C
NM_006005.3(WFS1):c.578dup (p.Gln194fs) rs779272128
NM_006005.3(WFS1):c.605A>G (p.Glu202Gly) rs1064794257
NM_006005.3(WFS1):c.676C>T (p.Gln226Ter) rs104893880
NM_006005.3(WFS1):c.817G>T (p.Glu273Ter) rs142428158
NM_006005.3(WFS1):c.873C>G (p.Tyr291Ter) rs777580652
NM_006005.3(WFS1):c.[2119G>T;2649del]

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.