List of variants reported as pathogenic for Intellectual disability, autosomal dominant 20 by OMIM

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_002397.5(MEF2C):c.-26C>T	rs758320958
NM_002397.5(MEF2C):c.-66A>T	rs1350600010
NM_002397.5(MEF2C):c.-8C>T	rs2153222958
NM_002397.5(MEF2C):c.113T>A (p.Leu38Gln)	rs397514655
NM_002397.5(MEF2C):c.220G>T (p.Glu74Ter)	rs2153074000
NM_002397.5(MEF2C):c.458del (p.Asn153fs)	rs730882192
NM_002397.5(MEF2C):c.683C>G (p.Ser228Ter)	rs267607233
NM_002397.5(MEF2C):c.80G>C (p.Gly27Ala)	rs397514656
NM_002397.5(MEF2C):c.833del (p.Leu277_Leu278insTer)	rs587783749
NM_002397.5(MEF2C):c.99dup (p.Glu34Ter)	rs2153074822

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