ClinVar Miner

List of variants in gene SCN2A reported as pathogenic for Inborn genetic diseases

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.1530_1531del (p.Lys511fs) rs1697702086
NM_001040142.2(SCN2A):c.1819C>T (p.Arg607Ter) rs746060762
NM_001040142.2(SCN2A):c.1831_1832del (p.Leu611fs) rs1698166561
NM_001040142.2(SCN2A):c.1890_1891del (p.Ala631fs) rs1698169832
NM_001040142.2(SCN2A):c.2356C>T (p.Gln786Ter) rs1553574733
NM_001040142.2(SCN2A):c.2388+1dup
NM_001040142.2(SCN2A):c.2504T>G (p.Leu835Ter) rs1699364897
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.3190_3230dup (p.Ile1078fs)
NM_001040142.2(SCN2A):c.386+2T>C rs1553564400
NM_001040142.2(SCN2A):c.4407del (p.Ile1469fs)
NM_001040142.2(SCN2A):c.4648del (p.Val1550fs)
NM_001040142.2(SCN2A):c.4752del (p.Leu1585fs)
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)
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
NM_001040142.2(SCN2A):c.802C>T (p.Gln268Ter) rs1553567936
NM_001040142.2(SCN2A):c.823C>T (p.Arg275Ter) rs181327458

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