ClinVar Miner

List of variants reported as likely pathogenic for Neurodevelopmental disorder and language delay with or without structural brain abnormalities

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Total variants: 12
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HGVS dbSNP
NM_002715.4(PPP2CA):c.263A>G (p.Asp88Gly) rs1561737008
NM_002715.4(PPP2CA):c.366G>C (p.Gln122His) rs764595667
NM_002715.4(PPP2CA):c.373C>A (p.Gln125Lys)
NM_002715.4(PPP2CA):c.380A>G (p.Tyr127Cys) rs1580637688
NM_002715.4(PPP2CA):c.391G>C (p.Asp131His) rs1580637673
NM_002715.4(PPP2CA):c.572A>G (p.His191Arg) rs915349596
NM_002715.4(PPP2CA):c.640C>T (p.Arg214Ter) rs148071386
NM_002715.4(PPP2CA):c.667G>C (p.Asp223His) rs1580636668
NM_002715.4(PPP2CA):c.668A>T (p.Asp223Val) rs1580636665
NM_002715.4(PPP2CA):c.722A>G (p.His241Arg) rs1580636613
NM_002715.4(PPP2CA):c.794A>G (p.Tyr265Cys) rs1561733474
NM_002715.4(PPP2CA):c.922_924dup (p.Phe308dup) rs864622012

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