ClinVar Miner

List of variants studied for adolescent-onset epilepsy syndrome by UCLA Clinical Genomics Center, UCLA

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_002247.3(KCNMA1):c.1054A>G (p.Thr352Ala) rs863224885
NM_004287.4(GOSR2):c.[336+1G>A];[430G>T]
NM_018941.3(CLN8):c.610C>T (p.Arg204Cys) rs104894060
NM_018941.3(CLN8):c.[212C>T];[562_563delCT]

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