ClinVar Miner

List of variants in gene WFS1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala) rs71524349 0.00279
NM_006005.3(WFS1):c.1554G>A (p.Met518Ile) rs138232538 0.00202
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.1597C>T (p.Pro533Ser) rs146132083 0.00076
NM_006005.3(WFS1):c.1153G>A (p.Glu385Lys) rs71524353 0.00057
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.1124G>A (p.Arg375His) rs142671083 0.00029
NM_006005.3(WFS1):c.325C>T (p.His109Tyr) rs112871383 0.00029
NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys) rs147834269 0.00018
NM_006005.3(WFS1):c.2122C>T (p.Arg708Cys) rs200099217 0.00016
NM_006005.3(WFS1):c.400G>A (p.Ala134Thr) rs147724970 0.00016
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.437G>A (p.Arg146His) rs34446752 0.00011
NM_006005.3(WFS1):c.2603G>A (p.Arg868His) rs56393026 0.00010
NM_006005.3(WFS1):c.1181A>T (p.Glu394Val) rs146563951 0.00006
NM_006005.3(WFS1):c.2359G>A (p.Ala787Thr) rs571946670 0.00006
NM_006005.3(WFS1):c.2620G>A (p.Ala874Thr) rs200775335 0.00006
NM_006005.3(WFS1):c.977C>T (p.Ala326Val) rs369795224 0.00006
NM_006005.3(WFS1):c.412C>T (p.Arg138Cys) rs780394696 0.00002
NM_006005.3(WFS1):c.727G>A (p.Ala243Thr) rs760226129 0.00002
NM_006005.3(WFS1):c.1037C>T (p.Pro346Leu) rs773900146 0.00001
NM_006005.3(WFS1):c.1510C>A (p.Pro504Thr) rs1064797305 0.00001
NM_006005.3(WFS1):c.2285A>G (p.Lys762Arg) rs876658119 0.00001
NM_006005.3(WFS1):c.2413C>T (p.Arg805Trp) rs763107032 0.00001
NM_006005.3(WFS1):c.382G>T (p.Asp128Tyr) rs71524350 0.00001
NM_006005.3(WFS1):c.415C>T (p.Arg139Cys) rs1413669857 0.00001
NM_006005.3(WFS1):c.535G>A (p.Ala179Thr) rs776685250 0.00001
NM_006005.3(WFS1):c.883G>A (p.Ala295Thr) rs537052067 0.00001
NM_006005.3(WFS1):c.1167T>G (p.Asp389Glu) rs201282601
NM_006005.3(WFS1):c.1562T>G (p.Leu521Arg)
NM_006005.3(WFS1):c.1653C>A (p.Ser551=) rs766730980
NM_006005.3(WFS1):c.1804G>A (p.Ala602Thr)
NM_006005.3(WFS1):c.1871T>G (p.Val624Gly) rs747477628
NM_006005.3(WFS1):c.1934T>C (p.Leu645Pro)
NM_006005.3(WFS1):c.1971G>C (p.Met657Ile)
NM_006005.3(WFS1):c.2001G>C (p.Gln667His) rs769778558
NM_006005.3(WFS1):c.2041A>G (p.Thr681Ala) rs1353393888
NM_006005.3(WFS1):c.220G>A (p.Ala74Thr)
NM_006005.3(WFS1):c.2296C>G (p.His766Asp) rs1553878946
NM_006005.3(WFS1):c.2337G>C (p.Val779=) rs1299034736
NM_006005.3(WFS1):c.2350A>T (p.Ser784Cys) rs1560421590
NM_006005.3(WFS1):c.2576G>T (p.Arg859Leu) rs121912618
NM_006005.3(WFS1):c.2580C>G (p.His860Gln) rs754802246
NM_006005.3(WFS1):c.2595C>A (p.His865Gln) rs142469572
NM_006005.3(WFS1):c.2632G>A (p.Ala878Thr) rs570527044
NM_006005.3(WFS1):c.623A>C (p.Asn208Thr)
NM_006005.3(WFS1):c.853C>T (p.Arg285Cys)
NM_006005.3(WFS1):c.955A>T (p.Ile319Phe) rs914996283
NM_006005.3(WFS1):c.958C>T (p.Pro320Ser) rs1553878280

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