ClinVar Miner

List of variants reported as uncertain significance for Severe myoclonic epilepsy in infancy by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001365536.1(SCN9A):c.1114C>T (p.Arg372Cys) rs1234934110 0.00001
NM_001165963.4(SCN1A):c.2710T>G (p.Phe904Val) rs1696653174
NM_001165963.4(SCN1A):c.2915T>G (p.Phe972Cys) rs2105805621
NM_001165963.4(SCN1A):c.4324G>T (p.Val1442Phe) rs1690574155
NM_001165963.4(SCN1A):c.4338+5G>C rs796053011
NM_001165963.4(SCN1A):c.5599_5605del (p.Ile1867fs) rs2105425501
NM_001165963.4(SCN1A):c.603-3C>G

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