ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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NM_003896.4(ST3GAL5):c.601G>A (p.Gly201Arg) rs771732955
NM_003896.4(ST3GAL5):c.740G>A (p.Gly247Asp) rs1573589807
NM_003896.4(ST3GAL5):c.82+1G>C rs878854615

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