ClinVar Miner

List of variants reported as likely pathogenic for Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations

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Total variants: 12
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NM_002397.5(MEF2C):c.137T>A (p.Ile46Asn)
NM_002397.5(MEF2C):c.170A>G (p.Tyr57Cys)
NM_002397.5(MEF2C):c.177C>G (p.Ser59Arg)
NM_002397.5(MEF2C):c.194T>G (p.Val65Gly) rs1580988074
NM_002397.5(MEF2C):c.44G>A (p.Arg15His) rs1202957297
NM_002397.5(MEF2C):c.532C>T (p.Gln178Ter)
NM_002397.5(MEF2C):c.68A>G (p.Lys23Arg) rs797045053
NM_002397.5(MEF2C):c.71G>A (p.Arg24Lys) rs869312698
NM_002397.5(MEF2C):c.84G>T (p.Leu28Phe)

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