ClinVar Miner

List of variants in gene ST3GAL5 reported as pathogenic for Amish infantile epilepsy syndrome

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP
NM_003896.3(ST3GAL5):c.1063G>A (p.Glu355Lys) rs534438354
NM_003896.3(ST3GAL5):c.147G>A (p.Trp49Ter)
NM_003896.3(ST3GAL5):c.353delA (p.Lys118Argfs)
NM_003896.3(ST3GAL5):c.369_381delGTTTGCCAAGACAinsTG (p.Lys123Asnfs) rs1553405470
NM_003896.3(ST3GAL5):c.584G>C (p.Cys195Ser) rs886037930
NM_003896.3(ST3GAL5):c.601G>A (p.Gly201Arg) rs771732955
NM_003896.3(ST3GAL5):c.862C>T (p.Arg288Ter) rs104893668

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