ClinVar Miner

List of variants reported as pathogenic for Vici syndrome by Invitae

Included ClinVar conditions (1):
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Total variants: 14
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HGVS dbSNP
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.2716C>T (p.Gln906Ter)
NM_020964.3(EPG5):c.310_311dup (p.Glu105fs) rs1483969601
NM_020964.3(EPG5):c.3614del (p.Leu1205fs) rs1568150793
NM_020964.3(EPG5):c.3762_3789dup (p.Ala1264delinsTyrTer) rs1555673890
NM_020964.3(EPG5):c.424G>T (p.Glu142Ter) rs190673127
NM_020964.3(EPG5):c.4286del (p.His1429fs) rs1568142333
NM_020964.3(EPG5):c.5938G>T (p.Glu1980Ter) rs763614919
NM_020964.3(EPG5):c.6353_6356del (p.Val2118fs) rs1599447883
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

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