List of variants in gene PTEN reported as pathogenic by German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)	rs121909224	0.00001
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)	rs121909231
NM_000314.8(PTEN):c.102del (p.Met35fs)	rs1564814454
NM_000314.8(PTEN):c.1034_1050del (p.Leu345fs)	rs1564570283
NM_000314.8(PTEN):c.209dup (p.Cys71Leufs)	rs1564826829
NM_000314.8(PTEN):c.44dup (p.Tyr16fs)	rs1564801750
NM_000314.8(PTEN):c.460_461dup (p.Tyr155fs)	rs1564830444
NM_000314.8(PTEN):c.626del (p.Gly209fs)	rs1564838034
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)	rs121909219
NM_000314.8(PTEN):c.715del (p.Met239fs)	rs1564566861
NM_000314.8(PTEN):c.740T>G (p.Leu247Ter)	rs1057519368
NM_000314.8(PTEN):c.955_958del (p.Leu318_Thr319insTer)	rs146650273

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