ClinVar Miner

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

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Total variants: 12
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NM_001040142.2(SCN2A):c.1563_1564del (p.Asp521fs) rs1553569739
NM_001040142.2(SCN2A):c.1820G>A (p.Arg607Gln) rs755003900
NM_001040142.2(SCN2A):c.1A>T (p.Met1Leu) rs1553564139
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001040142.2(SCN2A):c.2960G>T (p.Ser987Ile) rs796053124
NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys) rs796053126
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys) rs387906684
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter) rs796053138
NM_001040142.2(SCN2A):c.4435C>A (p.Gln1479Lys) rs1553462134
NM_001040142.2(SCN2A):c.4841T>C (p.Leu1614Pro) rs797045943
NM_001040142.2(SCN2A):c.606-159A>G rs1553567473
NM_001040142.2(SCN2A):c.788C>A (p.Ala263Glu) rs387906686

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