List of variants in gene PIK3R2 reported as pathogenic for Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1

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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: 4

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HGVS	dbSNP	gnomAD frequency
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)	rs587776934
NM_005027.4(PIK3R2):c.1126A>G (p.Lys376Glu)	rs886041591
NM_005027.4(PIK3R2):c.1153G>A (p.Gly385Arg)	rs2043767578
NM_005027.4(PIK3R2):c.1202T>C (p.Leu401Pro)	rs587777624

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