ClinVar Miner

List of variants in gene combination SCN1A, SCN9A reported as uncertain significance for Generalized epilepsy with febrile seizures plus

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Total variants: 31
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HGVS dbSNP
NM_002977.3(SCN9A):c.*1357C>T rs200338267
NM_002977.3(SCN9A):c.*1605T>C rs199848927
NM_002977.3(SCN9A):c.*165_*167dupATG rs886055049
NM_002977.3(SCN9A):c.*1770A>C rs200353065
NM_002977.3(SCN9A):c.*2222T>C rs199958892
NM_002977.3(SCN9A):c.*226A>C rs886055048
NM_002977.3(SCN9A):c.*2744delC rs763459885
NM_002977.3(SCN9A):c.*2860C>T rs200963393
NM_002977.3(SCN9A):c.*2928G>A rs199559478
NM_002977.3(SCN9A):c.*2986T>G rs201730339
NM_002977.3(SCN9A):c.*3282A>C rs139483482
NM_002977.3(SCN9A):c.*491delT rs886055047
NM_002977.3(SCN9A):c.*948G>A rs201415802
NM_002977.3(SCN9A):c.1014T>G (p.Asp338Glu) rs886055056
NM_002977.3(SCN9A):c.1094A>G (p.Asn365Ser) rs886055055
NM_002977.3(SCN9A):c.1207A>C (p.Met403Leu) rs746956041
NM_002977.3(SCN9A):c.1347T>C (p.Ser449=) rs201990547
NM_002977.3(SCN9A):c.1464C>T (p.Leu488=) rs200682458
NM_002977.3(SCN9A):c.1713C>T (p.Ala571=) rs200876333
NM_002977.3(SCN9A):c.1947G>A (p.Thr649=) rs200014315
NM_002977.3(SCN9A):c.2463A>C (p.Ser821=) rs200185692
NM_002977.3(SCN9A):c.2883T>C (p.Ser961=) rs886055054
NM_002977.3(SCN9A):c.3232G>A (p.Val1078Met) rs886055053
NM_002977.3(SCN9A):c.3431T>A (p.Phe1144Tyr) rs750839038
NM_002977.3(SCN9A):c.3464G>A (p.Cys1155Tyr) rs370455223
NM_002977.3(SCN9A):c.3721A>G (p.Thr1241Ala) rs886055052
NM_002977.3(SCN9A):c.3892-13T>C rs886055051
NM_002977.3(SCN9A):c.3911T>C (p.Ile1304Thr) rs202235611
NM_002977.3(SCN9A):c.4401_4403GAA[1] (p.Lys1469del) rs886055050
NM_002977.3(SCN9A):c.4470+8_4470+9insT rs767624579
NM_002977.3(SCN9A):c.5346G>A (p.Ala1782=) rs201875421

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