ClinVar Miner

List of variants reported for Early infantile epileptic encephalopathy with suppression bursts by Neurology Department, Shenzhen Children's Hospital

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.1108T>C (p.Phe370Leu) rs796053177
NM_001040142.2(SCN2A):c.1128_1130del (p.Leu377del) rs2105255370
NM_001040142.2(SCN2A):c.1253A>T (p.Asn418Ile) rs1553568970
NM_001040142.2(SCN2A):c.1271T>C (p.Val424Ala) rs796053181
NM_001040142.2(SCN2A):c.2657T>C (p.Leu886Ser) rs796053118
NM_001040142.2(SCN2A):c.3579_3580del (p.Trp1194fs) rs1553590192
NM_001040142.2(SCN2A):c.3936G>T (p.Arg1312Ser) rs1317894002
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)
NM_001040142.2(SCN2A):c.3956G>T (p.Arg1319Leu) rs121917753
NM_001040142.2(SCN2A):c.4223T>C (p.Val1408Ala) rs1574716488
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter) rs796053138
NM_001040142.2(SCN2A):c.4391C>T (p.Thr1464Ile) rs1701553334
NM_001040142.2(SCN2A):c.4399C>G (p.Leu1467Val) rs2105384694
NM_001040142.2(SCN2A):c.4454G>A (p.Gly1485Asp) rs1701579057
NM_001040142.2(SCN2A):c.466A>C (p.Lys156Gln) rs1553567130
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)
NM_001040142.2(SCN2A):c.4933G>A (p.Gly1645Arg) rs2105402260
NM_001040142.2(SCN2A):c.4969C>T (p.Leu1657Phe) rs2105402331
NM_001040142.2(SCN2A):c.4972C>T (p.Pro1658Ser) rs1702009188
NM_001040142.2(SCN2A):c.5237G>A (p.Cys1746Tyr) rs2105402821
NM_001040142.2(SCN2A):c.5558A>G (p.His1853Arg) rs2105403389
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)
NM_001040142.2(SCN2A):c.781G>A (p.Val261Met) rs1057520413

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