ClinVar Miner

List of variants in gene DVL1 studied for Inborn genetic diseases

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Total variants: 49
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HGVS dbSNP gnomAD frequency
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.1961T>C (p.Val654Ala) rs761979060 0.00012
NM_001330311.2(DVL1):c.561G>C (p.Glu187Asp) rs199864327 0.00010
NM_001330311.2(DVL1):c.433C>T (p.Arg145Trp) rs142925511 0.00009
NM_001330311.2(DVL1):c.544C>G (p.Leu182Val) rs776810243 0.00004
NM_001330311.2(DVL1):c.1649C>T (p.Pro550Leu) rs375584920 0.00003
NM_001330311.2(DVL1):c.2012C>T (p.Pro671Leu) rs925302561 0.00002
NM_001330311.2(DVL1):c.511G>A (p.Val171Met) rs546493336 0.00002
NM_001330311.2(DVL1):c.758C>T (p.Thr253Met) rs1643746555 0.00001
NM_001330311.2(DVL1):c.1067G>A (p.Arg356Gln)
NM_001330311.2(DVL1):c.1103C>T (p.Ala368Val)
NM_001330311.2(DVL1):c.1118C>T (p.Ala373Val)
NM_001330311.2(DVL1):c.1126C>T (p.Arg376Cys) rs144499639
NM_001330311.2(DVL1):c.1222C>T (p.Pro408Ser)
NM_001330311.2(DVL1):c.1223C>T (p.Pro408Leu)
NM_001330311.2(DVL1):c.1252G>A (p.Val418Ile)
NM_001330311.2(DVL1):c.1300C>T (p.Arg434Cys)
NM_001330311.2(DVL1):c.1562C>T (p.Thr521Met)
NM_001330311.2(DVL1):c.1579del (p.His527fs) rs1553173425
NM_001330311.2(DVL1):c.1589C>A (p.Ala530Asp)
NM_001330311.2(DVL1):c.1660C>A (p.Gln554Lys)
NM_001330311.2(DVL1):c.1667C>T (p.Pro556Leu)
NM_001330311.2(DVL1):c.1750C>T (p.Arg584Trp)
NM_001330311.2(DVL1):c.1763G>A (p.Arg588His) rs375813716
NM_001330311.2(DVL1):c.1781C>T (p.Ala594Val)
NM_001330311.2(DVL1):c.1814A>G (p.Asp605Gly)
NM_001330311.2(DVL1):c.1864G>A (p.Gly622Ser)
NM_001330311.2(DVL1):c.1895G>A (p.Ser632Asn)
NM_001330311.2(DVL1):c.1912G>A (p.Ala638Thr)
NM_001330311.2(DVL1):c.1942A>G (p.Thr648Ala)
NM_001330311.2(DVL1):c.1958T>C (p.Val653Ala)
NM_001330311.2(DVL1):c.1964G>T (p.Gly655Val)
NM_001330311.2(DVL1):c.2015A>C (p.Glu672Ala)
NM_001330311.2(DVL1):c.2050A>G (p.Met684Val)
NM_001330311.2(DVL1):c.255G>C (p.Glu85Asp)
NM_001330311.2(DVL1):c.346C>T (p.Arg116Trp)
NM_001330311.2(DVL1):c.377G>A (p.Ser126Asn)
NM_001330311.2(DVL1):c.383G>A (p.Arg128His)
NM_001330311.2(DVL1):c.490A>G (p.Arg164Gly) rs376205129
NM_001330311.2(DVL1):c.503G>A (p.Arg168Gln)
NM_001330311.2(DVL1):c.508G>T (p.Asp170Tyr)
NM_001330311.2(DVL1):c.520C>A (p.Pro174Thr)
NM_001330311.2(DVL1):c.680G>A (p.Arg227His)
NM_001330311.2(DVL1):c.686G>C (p.Arg229Pro)
NM_001330311.2(DVL1):c.697C>T (p.Arg233Trp)
NM_001330311.2(DVL1):c.698G>C (p.Arg233Pro)
NM_001330311.2(DVL1):c.701C>T (p.Ala234Val)
NM_001330311.2(DVL1):c.716G>C (p.Ser239Thr)

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