ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NC_000002.12:g.85846486C>T
NM_002973.4(ATXN2):c.176_190del (p.Val59_Ser63del) rs778119853
NM_003896.4(ST3GAL5):c.479C>A (p.Pro160His) rs1553405319
NM_003896.4(ST3GAL5):c.82+1G>C rs878854615

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