ClinVar Miner

List of variants in gene WFS1 reported as likely pathogenic for not provided

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Gene type:
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Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser) rs146132083 0.00076
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.2122C>T (p.Arg708Cys) rs200099217 0.00016
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) rs71530923 0.00013
NM_006005.3(WFS1):c.505G>A (p.Glu169Lys) rs148953711 0.00005
NM_006005.3(WFS1):c.1949A>G (p.Tyr650Cys) rs765322804 0.00004
NM_006005.3(WFS1):c.2149G>A (p.Glu717Lys) rs71532863 0.00004
NM_006005.3(WFS1):c.631G>A (p.Asp211Asn) rs138682654 0.00004
NM_006005.3(WFS1):c.2206G>A (p.Gly736Ser) rs71532864 0.00003
NM_006005.3(WFS1):c.2002C>T (p.Gln668Ter) rs1335308693 0.00002
NM_006005.3(WFS1):c.2254G>T (p.Glu752Ter) rs201239579 0.00002
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu) rs372855769 0.00002
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.1511C>T (p.Pro504Leu) rs28937892 0.00001
NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter) rs771409809 0.00001
NM_006005.3(WFS1):c.2059C>T (p.Gln687Ter) rs773554624 0.00001
NM_006005.3(WFS1):c.2108G>A (p.Arg703His) rs1323852277 0.00001
NM_006005.3(WFS1):c.2194C>T (p.Arg732Cys) rs71526458 0.00001
NM_006005.3(WFS1):c.2263T>C (p.Cys755Arg) rs797045075 0.00001
NM_006005.3(WFS1):c.2416G>C (p.Ala806Pro) rs762075088 0.00001
NM_006005.3(WFS1):c.376G>A (p.Ala126Thr) rs145639028 0.00001
NM_006005.3(WFS1):c.472G>A (p.Glu158Lys) rs567563179 0.00001
NM_006005.3(WFS1):c.712+1G>T rs1281745640 0.00001
NM_006005.3(WFS1):c.1010C>T (p.Thr337Ile)
NM_006005.3(WFS1):c.1046TCT[1] (p.Phe350del) rs1560418164
NM_006005.3(WFS1):c.1082C>G (p.Thr361Ser) rs781575919
NM_006005.3(WFS1):c.1174C>T (p.Gln392Ter) rs1430938532
NM_006005.3(WFS1):c.1205T>C (p.Leu402Pro) rs754090711
NM_006005.3(WFS1):c.1247TCT[1] (p.Phe417del)
NM_006005.3(WFS1):c.1289C>A (p.Ser430Ter)
NM_006005.3(WFS1):c.1289C>G (p.Ser430Trp) rs1235562712
NM_006005.3(WFS1):c.1289C>T (p.Ser430Leu) rs1235562712
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.1628T>C (p.Leu543Pro)
NM_006005.3(WFS1):c.1676C>A (p.Ala559Asp)
NM_006005.3(WFS1):c.1684G>C (p.Gly562Arg) rs753237278
NM_006005.3(WFS1):c.1692CCTCTT[1] (p.565LF[1]) rs797046113
NM_006005.3(WFS1):c.1699_1704del (p.565LF[1])
NM_006005.3(WFS1):c.1820C>G (p.Pro607Arg) rs373862003
NM_006005.3(WFS1):c.1922C>A (p.Thr641Lys) rs376626985
NM_006005.3(WFS1):c.1948T>G (p.Tyr650Asp)
NM_006005.3(WFS1):c.2061G>C (p.Gln687His) rs760938537
NM_006005.3(WFS1):c.2068T>C (p.Cys690Arg)
NM_006005.3(WFS1):c.2084G>A (p.Gly695Asp)
NM_006005.3(WFS1):c.2096C>T (p.Thr699Met) rs28937894
NM_006005.3(WFS1):c.2100G>C (p.Trp700Cys)
NM_006005.3(WFS1):c.2146G>A (p.Ala716Thr) rs28937893
NM_006005.3(WFS1):c.2189G>A (p.Trp730Ter) rs760171298
NM_006005.3(WFS1):c.2208_2211del (p.Glu737fs) rs1064797306
NM_006005.3(WFS1):c.2311G>T (p.Asp771Tyr)
NM_006005.3(WFS1):c.2331dup (p.Thr778fs) rs2109127427
NM_006005.3(WFS1):c.2385_2390delinsCGACGT (p.Glu795_Asp797delinsAspAspVal) rs2109127534
NM_006005.3(WFS1):c.2389G>A (p.Asp797Asn) rs1553879004
NM_006005.3(WFS1):c.2411T>C (p.Leu804Pro) rs1131691778
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro) rs104893883
NM_006005.3(WFS1):c.2524C>T (p.Leu842Phe) rs71530915
NM_006005.3(WFS1):c.2586G>T (p.Lys862Asn) rs373825245
NM_006005.3(WFS1):c.2600G>A (p.Trp867Ter) rs1553879087
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.529C>T (p.Arg177Cys) rs760631912
NM_006005.3(WFS1):c.568AAG[3] (p.Lys193del) rs752461187
NM_006005.3(WFS1):c.605A>G (p.Glu202Gly) rs1064794257
NM_006005.3(WFS1):c.631+2T>G rs543866098
NM_006005.3(WFS1):c.712+1G>A rs1281745640
NM_006005.3(WFS1):c.713-1G>T
NM_006005.3(WFS1):c.753dup (p.Lys252Ter) rs2109119524
NM_006005.3(WFS1):c.890_937dup (p.Met312_His313insLeuGluIleLysGluTyrLeuIleAspMetAlaSerArgAlaGlyMet)
NM_006005.3(WFS1):c.911_914dup (p.Asp305_Met306insTer) rs863224264
NM_006005.3(WFS1):c.937C>T (p.His313Tyr) rs886044563
NM_006005.3(WFS1):c.961A>C (p.Thr321Pro) rs1170910466
NM_006005.3(WFS1):c.962C>G (p.Thr321Arg) rs745761673

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