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: 37
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HGVS dbSNP
NM_001365536.1(SCN9A):c.1129del (p.Thr377fs) rs1574873149
NM_001365536.1(SCN9A):c.1567C>T (p.Arg523Ter)
NM_001365536.1(SCN9A):c.1642C>T (p.Arg548Ter) rs1057518900
NM_001365536.1(SCN9A):c.1766_1769del (p.Phe589fs) rs775868908
NM_001365536.1(SCN9A):c.1904C>G (p.Ser635Ter) rs1411870484
NM_001365536.1(SCN9A):c.1921A>T (p.Asn641Tyr) rs121908918
NM_001365536.1(SCN9A):c.2033del (p.Asp678fs) rs1574859556
NM_001365536.1(SCN9A):c.2109dup (p.Glu704Ter) rs779327684
NM_001365536.1(SCN9A):c.2141G>A (p.Trp714Ter) rs1057518162
NM_001365536.1(SCN9A):c.2204del (p.Lys735fs)
NM_001365536.1(SCN9A):c.2305_2323dup (p.Val775delinsAspTer) rs1553488759
NM_001365536.1(SCN9A):c.2409T>A (p.Tyr803Ter)
NM_001365536.1(SCN9A):c.2424G>A (p.Trp808Ter) rs769971743
NM_001365536.1(SCN9A):c.2454_2458del (p.Leu818fs) rs766212849
NM_001365536.1(SCN9A):c.2503C>T (p.Arg835Ter) rs1329907808
NM_001365536.1(SCN9A):c.2521C>T (p.Arg841Ter) rs780673293
NM_001365536.1(SCN9A):c.2576T>C (p.Ile859Thr) rs80356474
NM_001365536.1(SCN9A):c.2577del (p.Ile859fs) rs753900410
NM_001365536.1(SCN9A):c.2667dup (p.Lys890Ter)
NM_001365536.1(SCN9A):c.2709del (p.Asp902_Cys903insTer)
NM_001365536.1(SCN9A):c.2984_2985insC (p.Ile995_Lys996insTer)
NM_001365536.1(SCN9A):c.2984delinsCC (p.Ile995fs) rs1574844397
NM_001365536.1(SCN9A):c.3187G>T (p.Gly1063Ter)
NM_001365536.1(SCN9A):c.3780G>A (p.Trp1260Ter)
NM_001365536.1(SCN9A):c.3801+1G>A
NM_001365536.1(SCN9A):c.3928G>T (p.Val1310Phe) rs121908913
NM_001365536.1(SCN9A):c.3995G>A (p.Trp1332Ter) rs1553479216
NM_001365536.1(SCN9A):c.4495C>T (p.Arg1499Ter) rs187558439
NM_001365536.1(SCN9A):c.4510del (p.Ile1504fs)
NM_001365536.1(SCN9A):c.4733G>A (p.Trp1578Ter) rs200070962
NM_001365536.1(SCN9A):c.4740_4743dup (p.Asp1582delinsPheTer)
NM_001365536.1(SCN9A):c.4819del (p.Thr1607fs)
NM_001365536.1(SCN9A):c.4855C>T (p.Arg1619Ter)
NM_001365536.1(SCN9A):c.5004T>A (p.Tyr1668Ter)
NM_001365536.1(SCN9A):c.5082del (p.Thr1695fs)
NM_001365536.1(SCN9A):c.5100G>A (p.Trp1700Ter)
NM_001365536.1(SCN9A):c.5351del (p.Glu1784fs) rs1553473041

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