List of variants in gene PIK3CA studied for CLAPO syndrome

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg)	rs121913272
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)	rs121913273
NM_006218.4(PIK3CA):c.248T>C (p.Phe83Ser)	rs1560137208
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)	rs121913279
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)	rs121913279
NM_006218.4(PIK3CA):c.344G>C (p.Arg115Pro)	rs200018596
NM_006218.4(PIK3CA):c.461G>A (p.Arg154Lys)	rs1724363616

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