ClinVar Miner

List of variants reported as uncertain significance for Amish infantile epilepsy syndrome by Invitae

Included ClinVar conditions (1):
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Total variants: 14
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HGVS dbSNP
NC_000002.12:g.(?_85840124)_(85888925_?)dup
NM_003896.3(ST3GAL5):c.1076C>T (p.Ala359Val)
NM_003896.3(ST3GAL5):c.1126G>A (p.Asp376Asn) rs147305893
NM_003896.3(ST3GAL5):c.1129A>G (p.Ser377Gly) rs748173859
NM_003896.3(ST3GAL5):c.1163T>C (p.Met388Thr)
NM_003896.3(ST3GAL5):c.1247G>T (p.Arg416Leu) rs200683924
NM_003896.3(ST3GAL5):c.362G>A (p.Arg121His)
NM_003896.3(ST3GAL5):c.415G>T (p.Val139Leu) rs377046345
NM_003896.3(ST3GAL5):c.518C>T (p.Thr173Ile)
NM_003896.3(ST3GAL5):c.616G>A (p.Gly206Arg)
NM_003896.3(ST3GAL5):c.762A>C (p.Glu254Asp)
NM_003896.3(ST3GAL5):c.83-7T>G
NM_003896.3(ST3GAL5):c.831G>A (p.Met277Ile)
NM_003896.3(ST3GAL5):c.856T>A (p.Trp286Arg)

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