ClinVar Miner

List of variants in gene combination GH-LCR, SCN4A reported by Ambry Genetics

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_000334.4(SCN4A):c.2748C>G (p.Asn916Lys) rs115379510 0.00253
NM_000334.4(SCN4A):c.2200G>T (p.Ala734Ser) rs199651516 0.00030
NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser) rs200517944 0.00021
NM_000334.4(SCN4A):c.5468C>G (p.Pro1823Arg) rs376833596 0.00010
NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp) rs759982229 0.00009
NM_000334.4(SCN4A):c.4282A>G (p.Ile1428Val) rs368822028 0.00009
NM_000334.4(SCN4A):c.2794G>A (p.Asp932Asn) rs199656266 0.00006
NM_000334.4(SCN4A):c.5127C>A (p.Asn1709Lys) rs1045422843 0.00006
NM_000334.4(SCN4A):c.4711C>T (p.Pro1571Ser) rs772552529 0.00005
NM_000334.4(SCN4A):c.2419G>A (p.Ala807Thr) rs770694096 0.00004
NM_000334.4(SCN4A):c.3821A>G (p.Tyr1274Cys) rs1296775421 0.00004
NM_000334.4(SCN4A):c.3835A>G (p.Ile1279Val) rs367610608 0.00004
NM_000334.4(SCN4A):c.5264G>A (p.Arg1755His) rs373278632 0.00004
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958 0.00003
NM_000334.4(SCN4A):c.2500G>A (p.Gly834Ser) rs899627353 0.00002
NM_000334.4(SCN4A):c.4052C>T (p.Thr1351Met) rs545724550 0.00002
NM_000334.4(SCN4A):c.4264G>A (p.Val1422Met) rs567183255 0.00002
NM_000334.4(SCN4A):c.4547T>C (p.Met1516Thr) rs369886445 0.00002
NM_000334.4(SCN4A):c.4994A>C (p.Asp1665Ala) rs758866720 0.00002
NM_000334.4(SCN4A):c.5375C>T (p.Pro1792Leu) rs750560473 0.00002
NM_000334.4(SCN4A):c.2320G>A (p.Gly774Ser) rs761212631 0.00001
NM_000334.4(SCN4A):c.2797C>G (p.Leu933Val) rs757508857 0.00001
NM_000334.4(SCN4A):c.4180A>G (p.Ile1394Val) rs981021623 0.00001
NM_000334.4(SCN4A):c.4429A>G (p.Met1477Val) rs1465376529 0.00001
NM_000334.4(SCN4A):c.4601C>T (p.Thr1534Met) rs939785324 0.00001
NM_000334.4(SCN4A):c.4709A>G (p.Asn1570Ser) rs531658524 0.00001
NM_000334.4(SCN4A):c.4882G>A (p.Asp1628Asn) rs1004398583 0.00001
NM_000334.4(SCN4A):c.2359G>A (p.Val787Ile) rs532827016
NM_000334.4(SCN4A):c.2482C>T (p.Arg828Cys)
NM_000334.4(SCN4A):c.2593G>C (p.Gly865Arg) rs752159625
NM_000334.4(SCN4A):c.2621C>G (p.Ala874Gly)
NM_000334.4(SCN4A):c.2623C>G (p.Pro875Ala) rs201148948
NM_000334.4(SCN4A):c.2678T>A (p.Ile893Asn)
NM_000334.4(SCN4A):c.3037C>T (p.Arg1013Cys) rs1351279439
NM_000334.4(SCN4A):c.3157A>G (p.Ile1053Val)
NM_000334.4(SCN4A):c.3188C>T (p.Thr1063Ile)
NM_000334.4(SCN4A):c.3269A>G (p.Lys1090Arg)
NM_000334.4(SCN4A):c.3312C>G (p.Ile1104Met) rs779189351
NM_000334.4(SCN4A):c.3352G>A (p.Gly1118Ser)
NM_000334.4(SCN4A):c.3398C>T (p.Ala1133Val)
NM_000334.4(SCN4A):c.3472C>T (p.Pro1158Ser) rs121908555
NM_000334.4(SCN4A):c.3562T>C (p.Tyr1188His)
NM_000334.4(SCN4A):c.3682G>A (p.Asp1228Asn)
NM_000334.4(SCN4A):c.3703C>T (p.Leu1235Phe)
NM_000334.4(SCN4A):c.3962A>G (p.Asn1321Ser)
NM_000334.4(SCN4A):c.4168A>C (p.Met1390Leu)
NM_000334.4(SCN4A):c.4169T>G (p.Met1390Arg)
NM_000334.4(SCN4A):c.4265T>G (p.Val1422Gly)
NM_000334.4(SCN4A):c.4516T>C (p.Tyr1506His)
NM_000334.4(SCN4A):c.4557C>G (p.Phe1519Leu)
NM_000334.4(SCN4A):c.4930G>T (p.Val1644Leu)
NM_000334.4(SCN4A):c.5165T>C (p.Leu1722Pro)
NM_000334.4(SCN4A):c.5277C>G (p.Asp1759Glu) rs548333586
NM_000334.4(SCN4A):c.5290G>A (p.Asp1764Asn) rs2144773136

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