ClinVar Miner

List of variants in gene SCN2A reported as uncertain significance by Ambry Genetics

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Total variants: 29
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HGVS dbSNP
NM_021007.2(SCN2A):c.101C>T (p.Ala34Val) rs1553564177
NM_021007.2(SCN2A):c.1103A>T (p.Asp368Val)
NM_021007.2(SCN2A):c.1526A>G (p.Lys509Arg)
NM_021007.2(SCN2A):c.1568T>C (p.Val523Ala)
NM_021007.2(SCN2A):c.1728C>G (p.Ser576Arg)
NM_021007.2(SCN2A):c.1987C>G (p.Leu663Val)
NM_021007.2(SCN2A):c.2050C>T (p.Arg684Trp) rs200783308
NM_021007.2(SCN2A):c.2051G>A (p.Arg684Gln)
NM_021007.2(SCN2A):c.2874G>C (p.Met958Ile)
NM_021007.2(SCN2A):c.3130G>T (p.Asp1044Tyr)
NM_021007.2(SCN2A):c.3383T>C (p.Met1128Thr)
NM_021007.2(SCN2A):c.3637T>G (p.Phe1213Val) rs797044946
NM_021007.2(SCN2A):c.3726A>T (p.Leu1242Phe) rs1553591763
NM_021007.2(SCN2A):c.3734C>T (p.Ala1245Val) rs768796023
NM_021007.2(SCN2A):c.3932T>G (p.Leu1311Arg)
NM_021007.2(SCN2A):c.4196A>G (p.Lys1399Arg)
NM_021007.2(SCN2A):c.4782G>C (p.Trp1594Cys) rs1057521747
NM_021007.2(SCN2A):c.4940G>A (p.Arg1647His) rs797044927
NM_021007.2(SCN2A):c.4996C>T (p.Leu1666Phe) rs1553463466
NM_021007.2(SCN2A):c.5026A>G (p.Ile1676Val)
NM_021007.2(SCN2A):c.5274T>A (p.Ser1758Arg) rs1553463586
NM_021007.2(SCN2A):c.5506A>G (p.Lys1836Glu)
NM_021007.2(SCN2A):c.5752C>T (p.Arg1918Cys) rs139899756
NM_021007.2(SCN2A):c.5753G>A (p.Arg1918His)
NM_021007.2(SCN2A):c.5818T>C (p.Cys1940Arg)
NM_021007.2(SCN2A):c.605C>T (p.Ala202Val) rs1553567409
NM_021007.2(SCN2A):c.606-125G>T rs1553567488
NM_021007.2(SCN2A):c.82C>T (p.Arg28Cys) rs200884216
NM_021007.2(SCN2A):c.923A>G (p.Asn308Ser)

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