ClinVar Miner

List of variants in gene SCN5A reported as uncertain significance by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu) rs41276525 0.00065
NM_000335.5(SCN5A):c.2437-5C>A rs72549411 0.00045
NM_000335.5(SCN5A):c.1340C>G (p.Ala447Gly) rs199473113 0.00024
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00021
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235 0.00018
NM_000335.5(SCN5A):c.2071G>A (p.Ala691Thr) rs199473146 0.00012
NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile) rs199473278 0.00009
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp) rs45465995 0.00009
NM_000335.5(SCN5A):c.5958C>A (p.Asn1986Lys) rs199473335 0.00004
NM_000335.5(SCN5A):c.3389C>T (p.Thr1130Ile) rs199473197 0.00003
NM_000335.5(SCN5A):c.4532G>A (p.Arg1511Gln) rs368219299 0.00003
NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val) rs199473266 0.00002
NM_000335.5(SCN5A):c.3659C>T (p.Ala1220Val) rs727503407 0.00001
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602 0.00001
NM_000335.5(SCN5A):c.916C>G (p.Leu306Val) rs748956841 0.00001
NM_000335.5(SCN5A):c.3634T>G (p.Phe1212Val) rs2061468266
NM_000335.5(SCN5A):c.5589G>T (p.Glu1863Asp) rs794728899
NM_000335.5(SCN5A):c.5654A>C (p.Lys1885Thr) rs2125825142
NM_000335.5(SCN5A):c.5742C>A (p.His1914Gln) rs1314879329
NM_000335.5(SCN5A):c.869C>A (p.Thr290Asn) rs1559778505

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