ClinVar Miner

List of variants in gene SCN2A reported by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Gene type:
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.1141A>G (p.Met381Val) rs2105255410
NM_001040142.2(SCN2A):c.1A>T (p.Met1Leu) rs1553564139
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter) rs796053138
NM_001040142.2(SCN2A):c.4437G>C (p.Gln1479His) rs2105384764
NM_001040142.2(SCN2A):c.5641G>T (p.Glu1881Ter) rs1553463775
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)
NM_001040142.2(SCN2A):c.781G>T (p.Val261Leu) rs1057520413
NM_001040142.2(SCN2A):c.882del (p.Phe295fs) rs1553568045
NM_001371246.1(SCN2A):c.634A>G (p.Asn212Asp) rs1553567473

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