List of variants in gene PPP2CA reported as likely pathogenic by SIB Swiss Institute of Bioinformatics

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
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.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.794A>G (p.Tyr265Cys)	rs1561733474
NM_002715.4(PPP2CA):c.922_924dup (p.Phe308dup)	rs864622012

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