ClinVar Miner

List of variants reported as likely pathogenic for Seizures; Intellectual disability

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Total variants: 7
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HGVS dbSNP
NM_001146312.2(MYOCD):c.1252A>G (p.Ile418Val) rs137939966
NM_003165.4(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_014191.4(SCN8A):c.1258G>C (p.Ala420Pro)
NM_014191.4(SCN8A):c.4501C>T (p.Gln1501Ter)
NM_014822.4(SEC24D):c.697G>C (p.Gly233Arg) rs730882211
Single allele
t(X;7)(p10;q21.11)

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