ClinVar Miner

List of variants studied for Generalized epilepsy with febrile seizures plus, type 12

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_080552.3(SLC32A1):c.1232A>T (p.Gln411Leu)
NM_080552.3(SLC32A1):c.1382G>A (p.Gly461Asp) rs2084286884
NM_080552.3(SLC32A1):c.1391C>G (p.Thr464Arg) rs2084286911
NM_080552.3(SLC32A1):c.1403T>C (p.Leu468Pro) rs2084286998
NM_080552.3(SLC32A1):c.787G>A (p.Val263Met) rs2145649990
NM_080552.3(SLC32A1):c.989T>C (p.Met330Thr) rs2084284179

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