ClinVar Miner

List of variants reported as pathogenic for Epilepsy, familial focal, with variable foci 4

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_006922.4(SCN3A):c.2443G>A (p.Asp815Asn) rs755440336 0.00006
NM_006922.4(SCN3A):c.1070G>A (p.Arg357Gln) rs774195502 0.00005
NM_006922.4(SCN3A):c.4114A>G (p.Met1372Val) rs758906955 0.00004
NM_006922.3(SCN3A):c.742T>C (p.Ser248Pro) rs2105890565
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr) rs1057518801
NM_006922.4(SCN3A):c.5295G>A (p.Met1765Ile) rs2105619771

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