ClinVar Miner

List of variants in gene combination SCN1A, SCN9A reported as pathogenic for Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7

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Total variants: 17
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HGVS dbSNP
NM_002977.3(SCN9A):c.1129del (p.Thr377fs)
NM_002977.3(SCN9A):c.1642C>T (p.Arg548Ter) rs1057518900
NM_002977.3(SCN9A):c.1766_1769del (p.Phe589fs)
NM_002977.3(SCN9A):c.1904C>G (p.Ser635Ter) rs1411870484
NM_002977.3(SCN9A):c.2000del (p.Asp667fs)
NM_002977.3(SCN9A):c.2076dup (p.Glu693Ter) rs779327684
NM_002977.3(SCN9A):c.2108G>A (p.Trp703Ter) rs1057518162
NM_002977.3(SCN9A):c.2272_2290dup (p.Val764delinsAspTer) rs1553488759
NM_002977.3(SCN9A):c.2391G>A (p.Trp797Ter)
NM_002977.3(SCN9A):c.2421_2425del (p.Leu807fs) rs766212849
NM_002977.3(SCN9A):c.2470C>T (p.Arg824Ter)
NM_002977.3(SCN9A):c.2544del (p.Ile848fs) rs753900410
NM_002977.3(SCN9A):c.2951delinsCC (p.Ile984fs)
NM_002977.3(SCN9A):c.3895G>T (p.Val1299Phe) rs121908913
NM_002977.3(SCN9A):c.4462C>T (p.Arg1488Ter) rs187558439
NM_002977.3(SCN9A):c.4700G>A (p.Trp1567Ter) rs200070962
NM_002977.3(SCN9A):c.5318del (p.Glu1773fs) rs1553473041

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