List of variants in gene combination LOC130063979, PIK3R2 reported as benign for central nervous system malformation

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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: 5

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HGVS	dbSNP	gnomAD frequency
NM_005027.4(PIK3R2):c.700A>C (p.Ser234Arg)	rs2241088	0.93443
NM_005027.4(PIK3R2):c.700= (p.Ser234=)	rs2241088	0.06557
NM_005027.4(PIK3R2):c.691C>T (p.Arg231Cys)	rs558127851	0.00095
NM_005027.4(PIK3R2):c.598+11C>T
NM_005027.4(PIK3R2):c.694G>A (p.Val232Met)

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