ClinVar Miner

List of variants in gene SCN9A reported as likely pathogenic

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001365536.1(SCN9A):c.258+1G>A rs755067851 0.00001
NC_000002.11:g.(?_167119087)_(167129240_?)del
NM_001365536.1(SCN9A):c.258+2T>C
NM_001365536.1(SCN9A):c.347GAA[1] (p.Arg117del) rs1559030991
NM_001365536.1(SCN9A):c.378-1C>T rs1309621904
NM_001365536.1(SCN9A):c.428_444delinsG (p.Met143fs) rs1574906521
NM_001365536.1(SCN9A):c.468-1G>C
NM_001365536.1(SCN9A):c.468-1G>T
NM_001365536.1(SCN9A):c.596+1G>T rs201560701
NM_001365536.1(SCN9A):c.596+1del
NM_001365536.1(SCN9A):c.611_612dup (p.Val205fs) rs1574903287
NM_001365536.1(SCN9A):c.901A>T (p.Lys301Ter) rs1553495048

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