ClinVar Miner

List of variants in gene combination SCN1A, SCN9A reported as pathogenic by OMIM

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val) rs182650126 0.00278
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) rs200945460 0.00019
NM_001365536.1(SCN9A):c.984C>A (p.Tyr328Ter) rs121908917 0.00001
NM_001365536.1(SCN9A):c.1376C>G (p.Ser459Ter) rs121908908
NM_001365536.1(SCN9A):c.1867G>A (p.Asp623Asn) rs200398202
NM_001365536.1(SCN9A):c.2331del (p.Ala777_Ile778insTer) rs1574856736
NM_001365536.1(SCN9A):c.2576T>C (p.Ile859Thr) rs80356474
NM_001365536.1(SCN9A):c.2605C>T (p.Leu869Phe) rs80356476
NM_001365536.1(SCN9A):c.2606T>A (p.Leu869His) rs80356475
NM_001365536.1(SCN9A):c.2724G>A (p.Trp908Ter) rs121908909
NM_001365536.1(SCN9A):c.3019C>T (p.Arg1007Cys) rs121908910
NM_001365536.1(SCN9A):c.3925G>T (p.Val1309Phe) rs121908912
NM_001365536.1(SCN9A):c.3926T>A (p.Val1309Asp) rs121908911
NM_001365536.1(SCN9A):c.3928G>T (p.Val1310Phe) rs121908913
NM_001365536.1(SCN9A):c.4026delinsTT (p.Leu1342fs) rs606231279
NM_001365536.1(SCN9A):c.4378T>G (p.Phe1460Val) rs80356478
NM_001365536.1(SCN9A):c.4415T>C (p.Ile1472Thr) rs121908914
NM_001365536.1(SCN9A):c.4424C>T (p.Thr1475Ile) rs121908915
NM_002977.3(SCN9A):c.[2794A>C;2971G>T]

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