ClinVar Miner

List of variants studied for genetic generalized epilepsy by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (66):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.2292T>C (p.Val764=) rs6432860 0.73885
NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr) rs2298771 0.73872
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718 0.00003
NM_000197.2(HSD17B3):c.139A>G (p.Met47Val)

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