ClinVar Miner

List of variants in gene SCN9A reported as uncertain significance for Primary erythromelalgia

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001365536.1(SCN9A):c.-277C>T rs201445594 0.00163
NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met) rs71428908 0.00081
NM_001365536.1(SCN9A):c.-126G>C rs200099565 0.00068
NM_001365536.1(SCN9A):c.822A>G (p.Lys274=) rs199784484 0.00004
NM_002977.3(SCN9A):c.-348G>C rs1051254799 0.00004
NM_001365536.1(SCN9A):c.829C>A (p.Arg277=) rs121908916 0.00003
NM_001365536.1(SCN9A):c.294C>A (p.Phe98Leu) rs199824489 0.00002
NM_001365536.1(SCN9A):c.73C>A (p.Gln25Lys) rs200709311 0.00002
NM_001365536.1(SCN9A):c.238C>T (p.Pro80Ser) rs768587771
NM_001365536.1(SCN9A):c.274A>T (p.Asn92Tyr) rs747265095
NM_001365536.1(SCN9A):c.721T>A (p.Ser241Thr) rs80356470
NM_002977.3(SCN9A):c.-324C>A rs201905758
NM_002977.3(SCN9A):c.-324C>T rs201905758
NM_002977.3(SCN9A):c.-339G>C rs886055057

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