ClinVar Miner

List of variants studied for epilepsy by Clinical Genomics Laboratory, Stanford Medicine

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004974.4(KCNA2):c.929A>G (p.His310Arg) rs1649470988
NM_005045.4(RELN):c.2992C>G (p.Leu998Val) rs201003473
NM_006922.4(SCN3A):c.3989G>A (p.Gly1330Glu) rs1060500003
NM_006922.4(SCN3A):c.5027A>C (p.Asn1676Thr)

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