ClinVar Miner

List of variants in gene SCN9A reported as benign for Primary erythromelalgia

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001365536.1(SCN9A):c.596+25C>T rs4429487 0.74453
NM_001365536.1(SCN9A):c.444A>G (p.Pro148=) rs9646771 0.70187
NM_001365536.1(SCN9A):c.174G>A (p.Gln58=) rs6432901 0.64588
NM_002977.3(SCN9A):c.-307G>T rs1881440 0.24356
NM_001365536.1(SCN9A):c.688+13T>C rs74449889 0.04864
NM_001365536.1(SCN9A):c.-294T>C rs141521157 0.00704
NM_001365536.1(SCN9A):c.-283G>C rs191091185 0.00301
NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met) rs71428908 0.00081
NM_001365536.1(SCN9A):c.129T>C (p.Asp43=) rs200826539 0.00019
NM_001365536.1(SCN9A):c.-290T>C rs148362057
NM_001365536.1(SCN9A):c.-92G>T rs569406301

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