List of variants in gene PIK3R1 reported as likely pathogenic by Database of Curated Mutations (DoCM)

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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: 11

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HGVS	dbSNP	gnomAD frequency
NM_181523.3(PIK3R1):c.1126G>A (p.Gly376Arg)	rs1057519757
NM_181523.3(PIK3R1):c.1126G>C (p.Gly376Arg)	rs1057519757
NM_181523.3(PIK3R1):c.1314AGA[1] (p.Glu439del)	rs1131692242
NM_181523.3(PIK3R1):c.1381C>T (p.Arg461Ter)	rs1057519838
NM_181523.3(PIK3R1):c.1678G>T (p.Asp560Tyr)	rs1057519839
NM_181523.3(PIK3R1):c.1678_1695del (p.Asp560_Ser565del)	rs1057519840
NM_181523.3(PIK3R1):c.1690A>G (p.Asn564Asp)	rs1057519841
NM_181523.3(PIK3R1):c.1692C>A (p.Asn564Lys)	rs773686816
NM_181523.3(PIK3R1):c.1692C>G (p.Asn564Lys)	rs773686816
NM_181523.3(PIK3R1):c.1727_1729del (p.Thr576del)	rs1057519842
NM_181523.3(PIK3R1):c.1748_1750delGGT	rs1131692243

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