ClinVar Miner

List of variants in gene combination SCN1A, SCN9A reported as uncertain significance for Small fiber neuropathy

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001365536.1(SCN9A):c.*1770A>C rs200353065 0.00115
NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=) rs200014315 0.00023
NM_001365536.1(SCN9A):c.4503+8_4503+9insT rs767624579 0.00003
NM_001365536.1(SCN9A):c.*2744del rs763459885 0.00002
NM_001365536.1(SCN9A):c.*948G>A rs201415802 0.00002
NM_001365536.1(SCN9A):c.*2860C>T rs200963393 0.00001
NM_001365536.1(SCN9A):c.1347T>C (p.Ser449=) rs201990547 0.00001
NM_001365536.1(SCN9A):c.1713C>T (p.Ala571=) rs200876333 0.00001
NM_001365536.1(SCN9A):c.3464T>A (p.Phe1155Tyr) rs750839038 0.00001
NM_001365536.1(SCN9A):c.3497G>A (p.Cys1166Tyr) rs370455223 0.00001
NM_001365536.1(SCN9A):c.*165_*167dup rs886055049
NM_001365536.1(SCN9A):c.*226A>C rs886055048
NM_001365536.1(SCN9A):c.*3282A>C rs139483482
NM_001365536.1(SCN9A):c.*491del rs886055047
NM_001365536.1(SCN9A):c.1014T>G (p.Asp338Glu) rs886055056
NM_001365536.1(SCN9A):c.1094A>G (p.Asn365Ser) rs886055055
NM_001365536.1(SCN9A):c.2916T>C (p.Ser972=) rs886055054
NM_001365536.1(SCN9A):c.3265G>A (p.Val1089Met) rs886055053
NM_001365536.1(SCN9A):c.3754A>G (p.Thr1252Ala) rs886055052
NM_001365536.1(SCN9A):c.4434GAA[1] (p.Lys1480del) rs886055050

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