ClinVar Miner

List of variants in gene SCN2A reported as likely pathogenic for Early infantile epileptic encephalopathy 11

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Total variants: 13
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HGVS dbSNP
NM_001040142.1(SCN2A):c.1178C>A (p.Thr393Lys) rs794727003
NM_001040142.1(SCN2A):c.1A>T (p.Met1Leu) rs1553564139
NM_001040143.1(SCN2A):c.634A>G (p.Asn212Asp) rs1553567473
NM_021007.2(SCN2A):c.1563_1564delCA (p.Asp521Glufs) rs1553569739
NM_021007.2(SCN2A):c.1820G>A (p.Arg607Gln) rs755003900
NM_021007.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_021007.2(SCN2A):c.2960G>T (p.Ser987Ile) rs796053124
NM_021007.2(SCN2A):c.2995G>A (p.Glu999Lys) rs796053126
NM_021007.2(SCN2A):c.3631G>A (p.Glu1211Lys) rs387906684
NM_021007.2(SCN2A):c.4303C>T (p.Arg1435Ter) rs796053138
NM_021007.2(SCN2A):c.4435C>A (p.Gln1479Lys) rs1553462134
NM_021007.2(SCN2A):c.4841T>C (p.Leu1614Pro) rs797045943
NM_021007.2(SCN2A):c.788C>A (p.Ala263Glu) rs387906686

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