ClinVar Miner

List of variants in gene SCN2A reported as pathogenic by Ambry Genetics

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Total variants: 7
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HGVS dbSNP
NM_001040142.2(SCN2A):c.2356C>T (p.Gln786Ter) rs1553574733
NM_001040142.2(SCN2A):c.2645G>A (p.Gly882Glu) rs1553579305
NM_001040142.2(SCN2A):c.3067_3068del (p.Glu1023fs) rs1553583712
NM_001040142.2(SCN2A):c.4967C>T (p.Ser1656Phe) rs1553463464
NM_001040142.2(SCN2A):c.4980_4983del (p.Phe1661fs) rs1558885691
NM_001040142.2(SCN2A):c.5308A>T (p.Met1770Leu) rs1553463594
NM_001040142.2(SCN2A):c.5318C>T (p.Ala1773Val) rs1553463602

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