ClinVar Miner

List of variants in gene DVL1 studied for Inborn genetic diseases

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Total variants: 110
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HGVS dbSNP gnomAD frequency
NM_001330311.2(DVL1):c.1781C>T (p.Ala594Val) rs368894487 0.00031
NM_001330311.2(DVL1):c.1667C>T (p.Pro556Leu) rs756731811 0.00030
NM_001330311.2(DVL1):c.1900G>T (p.Ala634Ser) rs374846579 0.00029
NM_001330311.2(DVL1):c.490A>G (p.Arg164Gly) rs376205129 0.00028
NM_001330311.2(DVL1):c.1802G>T (p.Gly601Val) rs143613619 0.00021
NM_001330311.2(DVL1):c.1592C>T (p.Pro531Leu) rs199505104 0.00019
NM_001330311.2(DVL1):c.1223C>T (p.Pro408Leu) rs375802354 0.00015
NM_001330311.2(DVL1):c.1523A>G (p.Asn508Ser) rs368987984 0.00014
NM_001330311.2(DVL1):c.1580A>C (p.His527Pro) rs749864968 0.00013
NM_001330311.2(DVL1):c.1769A>G (p.Lys590Arg) rs771937584 0.00012
NM_001330311.2(DVL1):c.1961T>C (p.Val654Ala) rs761979060 0.00012
NM_001330311.2(DVL1):c.561G>C (p.Glu187Asp) rs199864327 0.00010
NM_001330311.2(DVL1):c.1222C>T (p.Pro408Ser) rs138293356 0.00009
NM_001330311.2(DVL1):c.433C>T (p.Arg145Trp) rs142925511 0.00009
NM_001330311.2(DVL1):c.688C>A (p.Gln230Lys) rs760413915 0.00008
NM_001330311.2(DVL1):c.377G>A (p.Ser126Asn) rs150009120 0.00006
NM_001330311.2(DVL1):c.1229C>T (p.Thr410Met) rs768931734 0.00005
NM_001330311.2(DVL1):c.1864G>A (p.Gly622Ser) rs568283927 0.00005
NM_001330311.2(DVL1):c.701C>T (p.Ala234Val) rs149964617 0.00005
NM_001330311.2(DVL1):c.1579C>A (p.His527Asn) rs755677662 0.00004
NM_001330311.2(DVL1):c.544C>G (p.Leu182Val) rs776810243 0.00004
NM_001330311.2(DVL1):c.1061C>T (p.Pro354Leu) rs1047862834 0.00003
NM_001330311.2(DVL1):c.1067G>A (p.Arg356Gln) rs11583882 0.00003
NM_001330311.2(DVL1):c.1258C>T (p.Arg420Trp) rs372788630 0.00003
NM_001330311.2(DVL1):c.1448C>T (p.Thr483Met) rs1329117789 0.00003
NM_001330311.2(DVL1):c.1571C>T (p.Pro524Leu) rs551168455 0.00003
NM_001330311.2(DVL1):c.1649C>T (p.Pro550Leu) rs375584920 0.00003
NM_001330311.2(DVL1):c.1739G>A (p.Arg580Gln) rs374246352 0.00003
NM_001330311.2(DVL1):c.1750C>T (p.Arg584Trp) rs778386571 0.00003
NM_001330311.2(DVL1):c.255G>C (p.Glu85Asp) rs776421964 0.00003
NM_001330311.2(DVL1):c.346C>T (p.Arg116Trp) rs538196309 0.00003
NM_001330311.2(DVL1):c.446G>A (p.Arg149Gln) rs998424030 0.00003
NM_001330311.2(DVL1):c.511G>A (p.Val171Met) rs546493336 0.00003
NM_001330311.2(DVL1):c.818G>A (p.Arg273His) rs375062198 0.00003
NM_001330311.2(DVL1):c.829G>A (p.Gly277Ser) rs369424360 0.00003
NM_001330311.2(DVL1):c.1252G>A (p.Val418Ile) rs777410024 0.00002
NM_001330311.2(DVL1):c.1259G>A (p.Arg420Gln) rs1187001815 0.00002
NM_001330311.2(DVL1):c.1916C>T (p.Pro639Leu) rs769030905 0.00002
NM_001330311.2(DVL1):c.1990C>T (p.Arg664Trp) rs760024382 0.00002
NM_001330311.2(DVL1):c.2012C>T (p.Pro671Leu) rs925302561 0.00002
NM_001330311.2(DVL1):c.383G>A (p.Arg128His) rs370097185 0.00002
NM_001330311.2(DVL1):c.508G>T (p.Asp170Tyr) rs145157749 0.00002
NM_001330311.2(DVL1):c.716G>C (p.Ser239Thr) rs752745458 0.00002
NM_001330311.2(DVL1):c.1294C>T (p.Arg432Cys) rs746537493 0.00001
NM_001330311.2(DVL1):c.1390C>T (p.Arg464Trp) rs1421128849 0.00001
NM_001330311.2(DVL1):c.1562C>T (p.Thr521Met) rs756494911 0.00001
NM_001330311.2(DVL1):c.1796G>A (p.Gly599Asp) rs753145330 0.00001
NM_001330311.2(DVL1):c.1876C>T (p.Arg626Cys) rs772591531 0.00001
NM_001330311.2(DVL1):c.1877G>A (p.Arg626His) rs748424414 0.00001
NM_001330311.2(DVL1):c.1964G>T (p.Gly655Val) rs1047404649 0.00001
NM_001330311.2(DVL1):c.2015A>C (p.Glu672Ala) rs940589568 0.00001
NM_001330311.2(DVL1):c.331G>A (p.Gly111Ser) rs1021940894 0.00001
NM_001330311.2(DVL1):c.382C>T (p.Arg128Cys) rs762913745 0.00001
NM_001330311.2(DVL1):c.503G>A (p.Arg168Gln) rs759810718 0.00001
NM_001330311.2(DVL1):c.520C>A (p.Pro174Thr) rs146637134 0.00001
NM_001330311.2(DVL1):c.536C>T (p.Ser179Phe) rs966017949 0.00001
NM_001330311.2(DVL1):c.680G>A (p.Arg227His) rs201122929 0.00001
NM_001330311.2(DVL1):c.697C>T (p.Arg233Trp) rs745907818 0.00001
NM_001330311.2(DVL1):c.70G>A (p.Ala24Thr) rs781714872 0.00001
NM_001330311.2(DVL1):c.731C>T (p.Thr244Ile) rs148148529 0.00001
NM_001330311.2(DVL1):c.758C>T (p.Thr253Met) rs1643746555 0.00001
NM_001330311.2(DVL1):c.1069C>A (p.Pro357Thr)
NM_001330311.2(DVL1):c.1103C>T (p.Ala368Val) rs532727906
NM_001330311.2(DVL1):c.1118C>T (p.Ala373Val) rs1470701172
NM_001330311.2(DVL1):c.1126C>T (p.Arg376Cys) rs144499639
NM_001330311.2(DVL1):c.1231G>A (p.Val411Met) rs780523329
NM_001330311.2(DVL1):c.1278C>G (p.Asp426Glu) rs141420415
NM_001330311.2(DVL1):c.1285C>A (p.Leu429Met)
NM_001330311.2(DVL1):c.1300C>T (p.Arg434Cys) rs1171248166
NM_001330311.2(DVL1):c.1579del (p.His527fs) rs1553173425
NM_001330311.2(DVL1):c.1589C>A (p.Ala530Asp) rs1179809614
NM_001330311.2(DVL1):c.1619A>G (p.Tyr540Cys)
NM_001330311.2(DVL1):c.1660C>A (p.Gln554Lys) rs780744557
NM_001330311.2(DVL1):c.1687G>A (p.Gly563Ser)
NM_001330311.2(DVL1):c.172G>A (p.Val58Met) rs1643868188
NM_001330311.2(DVL1):c.1730G>T (p.Gly577Val)
NM_001330311.2(DVL1):c.1750C>G (p.Arg584Gly) rs778386571
NM_001330311.2(DVL1):c.1759G>A (p.Gly587Ser)
NM_001330311.2(DVL1):c.1762C>A (p.Arg588Ser)
NM_001330311.2(DVL1):c.1763G>A (p.Arg588His) rs375813716
NM_001330311.2(DVL1):c.1814A>G (p.Asp605Gly) rs372749605
NM_001330311.2(DVL1):c.1855C>T (p.Arg619Cys) rs142476987
NM_001330311.2(DVL1):c.1859C>A (p.Pro620Gln)
NM_001330311.2(DVL1):c.1861G>T (p.Ala621Ser)
NM_001330311.2(DVL1):c.1892G>A (p.Arg631His)
NM_001330311.2(DVL1):c.1895G>A (p.Ser632Asn) rs1322099615
NM_001330311.2(DVL1):c.1912G>A (p.Ala638Thr) rs773602516
NM_001330311.2(DVL1):c.1942A>G (p.Thr648Ala) rs2523128534
NM_001330311.2(DVL1):c.1958T>C (p.Val653Ala) rs2523128357
NM_001330311.2(DVL1):c.1973C>T (p.Pro658Leu)
NM_001330311.2(DVL1):c.1987G>C (p.Val663Leu) rs770226805
NM_001330311.2(DVL1):c.1990C>G (p.Arg664Gly)
NM_001330311.2(DVL1):c.199A>G (p.Asn67Asp)
NM_001330311.2(DVL1):c.200A>G (p.Asn67Ser)
NM_001330311.2(DVL1):c.2021C>T (p.Thr674Ile)
NM_001330311.2(DVL1):c.2030G>A (p.Arg677His) rs376204834
NM_001330311.2(DVL1):c.2050A>G (p.Met684Val) rs867309666
NM_001330311.2(DVL1):c.2059C>T (p.Pro687Ser)
NM_001330311.2(DVL1):c.2070C>A (p.Phe690Leu) rs539920742
NM_001330311.2(DVL1):c.223G>A (p.Gly75Ser) rs779559545
NM_001330311.2(DVL1):c.22T>A (p.Tyr8Asn) rs2523251611
NM_001330311.2(DVL1):c.292A>G (p.Ser98Gly)
NM_001330311.2(DVL1):c.299C>G (p.Thr100Arg)
NM_001330311.2(DVL1):c.370G>A (p.Val124Met)
NM_001330311.2(DVL1):c.410C>A (p.Thr137Lys) rs544689996
NM_001330311.2(DVL1):c.458G>A (p.Arg153His) rs758604532
NM_001330311.2(DVL1):c.686G>C (p.Arg229Pro) rs766033367
NM_001330311.2(DVL1):c.698G>C (p.Arg233Pro) rs776763302
NM_001330311.2(DVL1):c.768G>C (p.Met256Ile)
NM_001330311.2(DVL1):c.851T>C (p.Met284Thr)

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