ClinVar Miner

List of variants in gene PPP2CA reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_002715.4(PPP2CA):c.837C>T (p.Asp279=) rs201998249 0.00024
NM_002715.4(PPP2CA):c.132C>T (p.Asn44=) rs147066435 0.00015
NM_002715.4(PPP2CA):c.420A>C (p.Ala140=) rs373404752 0.00009
NM_002715.4(PPP2CA):c.678G>A (p.Glu226=) rs139617743 0.00001
NM_002715.4(PPP2CA):c.822A>C (p.Ala274=) rs756668978 0.00001
NM_002715.4(PPP2CA):c.279A>G (p.Ser93=)
NM_002715.4(PPP2CA):c.304G>A (p.Ala102Thr)
NM_002715.4(PPP2CA):c.401del (p.Cys133_Leu134insTer) rs2149383411
NM_002715.4(PPP2CA):c.744_745del (p.Tyr248_Asn249delinsTer) rs2149382671

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