ClinVar Miner

List of variants in gene SCN2A reported by Baylor Genetics

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.5753G>A (p.Arg1918His) rs201718767 0.00015
NM_001040142.2(SCN2A):c.5047G>T (p.Ala1683Ser) rs764538126 0.00001
NM_001040142.2(SCN2A):c.2229_2230del (p.Lys743fs) rs1057518658
NM_001040142.2(SCN2A):c.2638G>A (p.Ala880Thr) rs1574641522
NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys) rs796053126
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_001040142.2(SCN2A):c.367A>C (p.Ile123Leu) rs1396703741
NM_001040142.2(SCN2A):c.3849+4A>G rs1700958754
NM_001040142.2(SCN2A):c.4255-3C>T rs1553461654
NM_001040142.2(SCN2A):c.4535C>G (p.Pro1512Arg)
NM_001040142.2(SCN2A):c.4877G>A (p.Arg1626Gln) rs796053155
NM_001040142.2(SCN2A):c.4946T>C (p.Leu1649Pro) rs1702008208
NM_001040142.2(SCN2A):c.5644C>G (p.Arg1882Gly) rs796053166
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) rs794727444
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)
NM_001040142.2(SCN2A):c.751G>A (p.Val251Ile) rs1057519528

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