List of variants in gene PPP3CA reported as pathogenic for developmental and epileptic encephalopathy

Minimum submission review status:		Collection method:
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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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000944.5(PPP3CA):c.1251_1252del (p.Ser417fs)
NM_000944.5(PPP3CA):c.1290dup (p.Met431fs)	rs1560570541
NM_000944.5(PPP3CA):c.1299dup (p.Ser434fs)	rs2110205188
NM_000944.5(PPP3CA):c.1308_1311dup (p.Ser438fs)	rs1553920379
NM_000944.5(PPP3CA):c.1308_1312dup (p.Ser438fs)
NM_000944.5(PPP3CA):c.1311_1315del (p.Ser438fs)	rs1578388765
NM_000944.5(PPP3CA):c.1333C>T (p.Gln445Ter)	rs1553920376
NM_000944.5(PPP3CA):c.1339G>A (p.Ala447Thr)	rs1553920374
NM_000944.5(PPP3CA):c.275A>G (p.His92Arg)	rs1553925558
NM_000944.5(PPP3CA):c.762G>T (p.Arg254Ser)	rs1334933549
NM_000944.5(PPP3CA):c.843C>G (p.His281Gln)	rs199706529
NM_000944.5(PPP3CA):c.844G>A (p.Glu282Lys)	rs1553923787

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