ClinVar Miner

List of variants in gene SCN4A reported as benign by GeneDx

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Gene type:
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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_000334.4(SCN4A):c.483-25T>C rs9892013 0.98729
NM_000334.4(SCN4A):c.1570A>G (p.Ser524Gly) rs6504191 0.91477
NM_000334.4(SCN4A):c.703+55T>C rs2302236 0.85739
NM_000334.4(SCN4A):c.1037-304T>C rs4968678 0.85402
NM_000334.4(SCN4A):c.1037-291A>G rs4968677 0.84861
NM_000334.4(SCN4A):c.1243-41A>G rs2877373 0.79619
NM_000334.4(SCN4A):c.1452+224T>C rs917558 0.78939
NM_000334.4(SCN4A):c.1452+270C>A rs917557 0.78264
NM_000334.4(SCN4A):c.1453-132C>A rs2331408 0.75697
NM_000334.4(SCN4A):c.-327A>G rs3760238 0.52810
NM_000334.4(SCN4A):c.-312G>A rs3760239 0.51479
NM_000334.4(SCN4A):c.1845+12C>G rs776175702 0.15279
NM_000334.4(SCN4A):c.1607-339A>G rs73326355 0.09674
NM_000334.4(SCN4A):c.1845+319G>C rs77136990 0.06811
NM_000334.4(SCN4A):c.1100+115T>G rs73326367 0.06208
NM_000334.4(SCN4A):c.864C>T (p.Asn288=) rs7218917 0.06188
NM_000334.4(SCN4A):c.1037-112G>A rs78364035 0.06105
NM_000334.4(SCN4A):c.366C>T (p.Arg122=) rs41280108 0.04121
NM_000334.4(SCN4A):c.1167T>C (p.Tyr389=) rs16947296 0.03818
NM_000334.4(SCN4A):c.1242+247T>C rs2008896 0.03756
NM_000334.4(SCN4A):c.1100+83C>G rs77563591 0.03746
NM_000334.4(SCN4A):c.1452+260C>T rs78305954 0.02742
NM_000334.4(SCN4A):c.612-119C>T rs78410751 0.02251
NM_000334.4(SCN4A):c.1453-23C>T rs75168694 0.02115
NM_000334.4(SCN4A):c.-240G>C rs77367618 0.01889
NM_000334.4(SCN4A):c.726C>T (p.Ala242=) rs73326368 0.01791
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952 0.01562
NM_000334.4(SCN4A):c.489C>G (p.Thr163=) rs146590697 0.00848
NM_000334.4(SCN4A):c.1606+20G>A rs73326363 0.00787
NM_000334.4(SCN4A):c.241G>C (p.Glu81Gln) rs111926172 0.00509
NM_000334.4(SCN4A):c.92G>T (p.Arg31Leu) rs112142736 0.00506
NM_000334.4(SCN4A):c.404T>C (p.Met135Thr) rs115304957 0.00467
NM_000334.4(SCN4A):c.154C>T (p.Arg52Trp) rs201379704 0.00258
NM_000334.4(SCN4A):c.-33C>T rs575313119 0.00010
NM_000334.4(SCN4A):c.1036+75dup rs11418006
NM_000334.4(SCN4A):c.1036+89del rs11418006
NM_000334.4(SCN4A):c.1242+105G>C rs2009051
NM_000334.4(SCN4A):c.1845+166del rs58426251
NM_000334.4(SCN4A):c.1845+18A>G rs775429476
NM_000334.4(SCN4A):c.1845+7A>G rs141021600
NM_000334.4(SCN4A):c.612-17del rs542836462
NM_000334.4(SCN4A):c.612-94G>A rs2302237

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