ClinVar Miner

List of variants in gene WFS1 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_006005.3(WFS1):c.997G>A (p.Val333Ile) rs1801212 0.80149
NM_006005.3(WFS1):c.2565A>G (p.Ser855=) rs1046316 0.70506
NM_006005.3(WFS1):c.461-9A>G rs10010131 0.63169
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.2019C>T (p.Cys673=) rs71524375 0.01683
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.1800C>T (p.Thr600=) rs71524362 0.01070
NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser) rs1805069 0.01068
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.2247G>A (p.Thr749=) rs75096624 0.00513
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.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.577A>C (p.Lys193Gln) rs41264699 0.00249
NM_006005.3(WFS1):c.2124C>T (p.Arg708=) rs61735401 0.00223
NM_006005.3(WFS1):c.482G>A (p.Arg161Gln) rs115346085 0.00204
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.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.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_006005.3(WFS1):c.1024G>A (p.Ala342Thr) rs148028521 0.00029
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln) rs71539657 0.00028
NM_006005.3(WFS1):c.1309G>A (p.Gly437Ser) rs147974629 0.00021
NM_006005.3(WFS1):c.2012C>T (p.Ala671Val) rs71530907 0.00021
NM_006005.3(WFS1):c.1377G>A (p.Leu459=) rs143672793 0.00019
NM_006005.3(WFS1):c.173C>T (p.Ala58Val) rs369671890 0.00009
NM_006005.3(WFS1):c.511G>A (p.Asp171Asn) rs758281375 0.00009
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.1479C>T (p.Val493=) rs750126396 0.00006
NM_006005.3(WFS1):c.1724C>G (p.Ala575Gly) rs71524360 0.00006
NM_006005.3(WFS1):c.1743C>T (p.Gly581=) rs377539343 0.00004
NM_006005.3(WFS1):c.1396G>A (p.Gly466Ser) rs727503750 0.00001
NM_006005.3(WFS1):c.601C>A (p.Leu201Met) rs529580583 0.00001
NM_006005.3(WFS1):c.1038G>A (p.Pro346=) rs143886476
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
NM_006005.3(WFS1):c.154C>A (p.Pro52Thr) rs111773340
NM_006005.3(WFS1):c.1558C>G (p.Gln520Glu) rs377544135
NM_006005.3(WFS1):c.1797C>A (p.Val599=) rs71524361
NM_006005.3(WFS1):c.2013G>T (p.Ala671=)
NM_006005.3(WFS1):c.2158A>G (p.Ile720Val) rs1805070
NM_006005.3(WFS1):c.2207G>A (p.Gly736Asp) rs71530912
NM_006005.3(WFS1):c.2370G>A (p.Ser790=) rs150936382
NM_006005.3(WFS1):c.2387ACG[3] (p.Asp797dup) rs397517197
NM_006005.3(WFS1):c.350C>T (p.Thr117Met) rs141225426
NM_006005.3(WFS1):c.57G>C (p.Pro19=)
NM_006005.3(WFS1):c.943C>T (p.Leu315=)

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