ClinVar Miner

List of variants reported as likely pathogenic for Epileptic encephalopathy by Neurogenetics Laboratory - MEYER, AOU Meyer

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000814.6(GABRB3):c.372A>C (p.Leu124Phe) rs1057519550
NM_000814.6(GABRB3):c.761C>T (p.Ser254Phe) rs1057519549
NM_001040142.2(SCN2A):c.2687C>T (p.Ala896Val) rs1057519526
NM_001040142.2(SCN2A):c.3947C>T (p.Ala1316Val) rs796053130
NM_001040142.2(SCN2A):c.4031G>A (p.Cys1344Tyr) rs1057519527
NM_001040142.2(SCN2A):c.4643T>C (p.Met1548Thr) rs1057519524
NM_001040142.2(SCN2A):c.751G>A (p.Val251Ile) rs1057519528
NM_001330260.2(SCN8A):c.2932A>G (p.Ser978Gly) rs1057519540
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_006772.3(SYNGAP1):c.583G>C (p.Ala195Pro) rs1057519545
NM_021072.4(HCN1):c.1172G>A (p.Gly391Asp) rs1057519547
NM_021072.4(HCN1):c.459G>C (p.Met153Ile) rs1057519548
NM_172107.4(KCNQ2):c.1742G>A (p.Arg581Gln) rs118192235
NM_172107.4(KCNQ2):c.802C>T (p.Leu268Phe) rs1057516094
NM_172107.4(KCNQ2):c.873G>T (p.Arg291Ser) rs1057519535

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