ClinVar Miner

List of variants in gene SCN4A studied for Inborn genetic diseases

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg) rs199676994 0.00059
NM_000334.4(SCN4A):c.199A>G (p.Ile67Val) rs200834218 0.00041
NM_000334.4(SCN4A):c.436G>A (p.Val146Ile) rs367988986 0.00027
NM_000334.4(SCN4A):c.845G>A (p.Arg282His) rs200615763 0.00025
NM_000334.4(SCN4A):c.145G>A (p.Glu49Lys) rs368011562 0.00011
NM_000334.4(SCN4A):c.841G>A (p.Val281Met) rs370289618 0.00009
NM_000334.4(SCN4A):c.1354G>A (p.Glu452Lys) rs372631097 0.00006
NM_000334.4(SCN4A):c.386T>C (p.Ile129Thr) rs369652972 0.00005
NM_000334.4(SCN4A):c.1583G>T (p.Ser528Ile) rs906634749 0.00004
NM_000334.4(SCN4A):c.229G>A (p.Gly77Ser) rs369547459 0.00002
NM_000334.4(SCN4A):c.692C>T (p.Thr231Met) rs867587467 0.00001
NM_000334.4(SCN4A):c.752C>T (p.Ser251Leu) rs751884584 0.00001
NM_000334.4(SCN4A):c.91C>T (p.Arg31Trp) rs756059775 0.00001
NM_000334.4(SCN4A):c.1108C>T (p.Pro370Ser)
NM_000334.4(SCN4A):c.1173del (p.Phe392fs) rs1235665641
NM_000334.4(SCN4A):c.1364A>C (p.Glu455Ala)
NM_000334.4(SCN4A):c.1434C>A (p.His478Gln)
NM_000334.4(SCN4A):c.148C>G (p.Pro50Ala)
NM_000334.4(SCN4A):c.1541A>T (p.Gln514Leu)
NM_000334.4(SCN4A):c.1569C>A (p.Ser523Arg)
NM_000334.4(SCN4A):c.190C>G (p.Leu64Val) rs1480788895
NM_000334.4(SCN4A):c.1943T>C (p.Ile648Thr)
NM_000334.4(SCN4A):c.365G>T (p.Arg122Leu) rs374529559
NM_000334.4(SCN4A):c.520A>G (p.Ile174Val)
NM_000334.4(SCN4A):c.5C>T (p.Ala2Val)
NM_000334.4(SCN4A):c.709A>G (p.Lys237Glu)

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