ClinVar Miner

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

Included ClinVar conditions (1):
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Gene type:
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Total variants: 15
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NM_020964.3(EPG5):c.1007A>G (p.Gln336Arg) rs201757275
NM_020964.3(EPG5):c.1249C>T (p.Arg417Ter) rs961245497
NM_020964.3(EPG5):c.136C>T (p.Gln46Ter) rs866435487
NM_020964.3(EPG5):c.1678-1G>A rs755928939
NM_020964.3(EPG5):c.4387_4388del (p.Val1463fs) rs1599536432
NM_020964.3(EPG5):c.4665del (p.Glu1555fs) rs1057519318
NM_020964.3(EPG5):c.4751T>A (p.Leu1584Ter) rs1568133760
NM_020964.3(EPG5):c.4783C>T (p.Gln1595Ter) rs1568133724
NM_020964.3(EPG5):c.5479C>G (p.Pro1827Ala) rs1568118775
NM_020964.3(EPG5):c.5966G>A (p.Trp1989Ter) rs1568112543
NM_020964.3(EPG5):c.5993C>G (p.Ser1998Ter) rs1568112516
NM_020964.3(EPG5):c.6084G>A (p.Trp2028Ter) rs1568107449
NM_020964.3(EPG5):c.7333C>T (p.Arg2445Ter) rs780889226
NM_020964.3(EPG5):c.7447C>T (p.Arg2483Ter) rs863225064

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