ClinVar Miner

List of variants in gene EPG5 reported as pathogenic for Vici syndrome

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Total variants: 38
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HGVS dbSNP
EPG5, 1-BP DUP, 5704T
NM_020964.2(EPG5):c.[1188delC;2598A>G]
NM_020964.2(EPG5):c.[1A>G;4108delC]
NM_020964.2(EPG5):c.[2461C>T;3582G>A]
NM_020964.2(EPG5):c.[2T>C;5792delT]
NM_020964.2(EPG5):c.[3044C>T;6766+1G>C]
NM_020964.2(EPG5):c.[3152C>G;4230G>A]
NM_020964.3(EPG5):c.1252+1G>T rs763788808
NM_020964.3(EPG5):c.1253-1G>A rs1470797555
NM_020964.3(EPG5):c.1254del (p.Ser419fs)
NM_020964.3(EPG5):c.1431_1434CTTC[1] (p.Phe478_Leu479insTer) rs762639913
NM_020964.3(EPG5):c.1501A>T (p.Lys501Ter) rs1203870830
NM_020964.3(EPG5):c.1924C>T (p.Arg642Ter) rs912986968
NM_020964.3(EPG5):c.2353dup (p.Ala785fs) rs1085308062
NM_020964.3(EPG5):c.2575G>T (p.Glu859Ter) rs587776941
NM_020964.3(EPG5):c.2716C>T (p.Gln906Ter)
NM_020964.3(EPG5):c.310_311dup (p.Glu105fs) rs1483969601
NM_020964.3(EPG5):c.3481C>T (p.Arg1161Ter) rs587776940
NM_020964.3(EPG5):c.3614del (p.Leu1205fs) rs1568150793
NM_020964.3(EPG5):c.3698G>A (p.Trp1233Ter) rs1555673917
NM_020964.3(EPG5):c.3762_3789dup (p.Ala1264delinsTyrTer) rs1555673890
NM_020964.3(EPG5):c.4007G>A (p.Gly1336Glu) rs1085308061
NM_020964.3(EPG5):c.424G>T (p.Glu142Ter) rs190673127
NM_020964.3(EPG5):c.4286del (p.His1429fs) rs1568142333
NM_020964.3(EPG5):c.4327C>T (p.Gln1443Ter)
NM_020964.3(EPG5):c.4588C>T (p.Gln1530Ter) rs587776939
NM_020964.3(EPG5):c.5870-2A>G rs1599474108
NM_020964.3(EPG5):c.5938G>T (p.Glu1980Ter) rs763614919
NM_020964.3(EPG5):c.6084G>A (p.Trp2028Ter) rs1568107449
NM_020964.3(EPG5):c.6232C>T (p.Arg2078Ter) rs587776942
NM_020964.3(EPG5):c.6353_6356del (p.Val2118fs) rs1599447883
NM_020964.3(EPG5):c.6577del (p.Val2193fs) rs1599445663
NM_020964.3(EPG5):c.6885G>A (p.Trp2295Ter)
NM_020964.3(EPG5):c.7156G>T (p.Glu2386Ter)
NM_020964.3(EPG5):c.7333C>T (p.Arg2445Ter) rs780889226
NM_020964.3(EPG5):c.7447C>T (p.Arg2483Ter) rs863225064
NM_020964.3(EPG5):c.895C>T (p.Arg299Ter) rs767638289
Single allele

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