ClinVar Miner

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

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001365536.1(SCN9A):c.5351del (p.Glu1784fs) rs1553473041 0.00001
NM_001365536.1(SCN9A):c.984C>A (p.Tyr328Ter) rs121908917 0.00001
NM_001365536.1(SCN9A):c.1185C>G (p.Asn395Lys) rs80356471
NM_001365536.1(SCN9A):c.2141G>A (p.Trp714Ter) rs1057518162
NM_001365536.1(SCN9A):c.4495C>T (p.Arg1499Ter) rs187558439
NM_001365536.1(SCN9A):c.4928C>A (p.Ala1643Glu) rs879253994
NM_001365536.1(SCN9A):c.966-2A>G rs1553492481

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