ClinVar Miner

List of variants reported as pathogenic for adolescent-onset epilepsy syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln) rs113994140 0.00003
NM_005506.4(SCARB2):c.862C>T (p.Gln288Ter) rs121909118 0.00001
NM_000100.4(CSTB):c.218_219del (p.Leu73fs) rs796943858
NM_000748.3(CHRNB2):c.859G>T (p.Val287Leu)
NM_001112741.2(KCNC1):c.1262C>T (p.Ala421Val) rs1554991378
NM_001242896.3(DEPDC5):c.4501C>T (p.Gln1501Ter) rs1603014708
NM_005045.4(RELN):c.7909C>T (p.Arg2637Cys) rs587780438

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