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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys)	rs200945460	0.00019
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.3452dup (p.Glu1152fs)	rs2106426285
NM_001365536.1(SCN9A):c.4378T>G (p.Phe1460Val)	rs80356478

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