ClinVar Miner

List of variants studied for Vici syndrome by OMIM

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP
EPG5, 1-BP DUP, 5704T
NM_020964.3(EPG5):c.2353dup (p.Ala785fs) rs1085308062
NM_020964.3(EPG5):c.2575G>T (p.Glu859Ter) rs587776941
NM_020964.3(EPG5):c.3481C>T (p.Arg1161Ter) rs587776940
NM_020964.3(EPG5):c.4007G>A (p.Gly1336Glu) rs1085308061
NM_020964.3(EPG5):c.4588C>T (p.Gln1530Ter) rs587776939
NM_020964.3(EPG5):c.6232C>T (p.Arg2078Ter) rs587776942
NM_020964.3(EPG5):c.7447C>T (p.Arg2483Ter) rs863225064

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