ClinVar Miner

List of variants in gene combination SCN1A, SCN9A reported as pathogenic for Primary erythromelalgia

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Total variants: 10
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HGVS dbSNP
NM_001365536.1(SCN9A):c.1185C>A (p.Asn395Lys) rs80356471
NM_001365536.1(SCN9A):c.1198G>A (p.Val400Met) rs1553491169
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) rs200945460
NM_001365536.1(SCN9A):c.2501T>G (p.Leu834Arg) rs80356473
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.2620G>C (p.Ala874Pro) rs80356477
NM_001365536.1(SCN9A):c.4378T>G (p.Phe1460Val) rs80356478

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