ClinVar Miner

List of variants in gene EPG5, LOC126862737 studied for Vici syndrome

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_020964.3(EPG5):c.1271G>A (p.Ser424Asn) rs117817123 0.00946
NM_020964.3(EPG5):c.1254G>A (p.Ala418=) rs368735317 0.00014
NM_020964.3(EPG5):c.1293A>G (p.Gln431=) rs753444846 0.00006
NM_020964.3(EPG5):c.1254del (p.Ser419fs) rs2050902019 0.00001
NM_020964.3(EPG5):c.1312G>A (p.Val438Ile) rs750946464 0.00001
NM_020964.3(EPG5):c.1370T>C (p.Leu457Pro) rs746862679 0.00001
NM_020964.3(EPG5):c.1253-15A>G
NM_020964.3(EPG5):c.1253-1G>A rs1470797555
NM_020964.3(EPG5):c.1254G>T (p.Ala418=)
NM_020964.3(EPG5):c.1258A>G (p.Lys420Glu) rs2143723704
NM_020964.3(EPG5):c.1261_1263del (p.Gln421del)
NM_020964.3(EPG5):c.1270A>G (p.Ser424Gly)
NM_020964.3(EPG5):c.1272C>T (p.Ser424=)
NM_020964.3(EPG5):c.1308T>C (p.Ile436=)
NM_020964.3(EPG5):c.1311T>C (p.Ser437=)
NM_020964.3(EPG5):c.1318T>C (p.Phe440Leu) rs200123131
NM_020964.3(EPG5):c.1338T>G (p.Val446=)
NM_020964.3(EPG5):c.1341T>C (p.Asn447=)
NM_020964.3(EPG5):c.1346A>T (p.Asp449Val) rs2143722158
NM_020964.3(EPG5):c.1351C>T (p.Gln451Ter)
NM_020964.3(EPG5):c.1356T>G (p.Phe452Leu)
NM_020964.3(EPG5):c.1358A>T (p.His453Leu)
NM_020964.3(EPG5):c.1362T>C (p.Asp454=)
NM_020964.3(EPG5):c.1371T>C (p.Leu457=)
NM_020964.3(EPG5):c.1389+12G>A
NM_020964.3(EPG5):c.1389+12G>C
NM_020964.3(EPG5):c.1389+18G>T
NM_020964.3(EPG5):c.1389+2T>G

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