List of variants in gene PTEN reported as pathogenic for Macrocephaly-autism syndrome; Familial meningioma; Glioma susceptibility 2; Familial prostate cancer; Cowden 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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000314.8(PTEN):c.289C>T (p.Gln97Ter)	rs786204928	0.00001
NM_000314.8(PTEN):c.176C>G (p.Ser59Ter)	rs1060500116
NM_000314.8(PTEN):c.225_238del (p.His75fs)
NM_000314.8(PTEN):c.302T>C (p.Ile101Thr)	rs1339631701
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)	rs121909224
NM_000314.8(PTEN):c.48T>A (p.Tyr16Ter)	rs587782187
NM_000314.8(PTEN):c.634+2T>C	rs727504114
NM_000314.8(PTEN):c.654C>A (p.Cys218Ter)	rs1554825165
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu)	rs587782350

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