List of variants in gene PTEN reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000314.8(PTEN):c.136T>C (p.Tyr46His)	rs1064793325
NM_000314.8(PTEN):c.149T>C (p.Ile50Thr)	rs1554893824
NM_000314.8(PTEN):c.158T>C (p.Val53Ala)	rs786203375
NM_000314.8(PTEN):c.369C>G (p.His123Gln)	rs1085308045
NM_000314.8(PTEN):c.376G>A (p.Ala126Thr)	rs1554898129
NM_000314.8(PTEN):c.661A>G (p.Lys221Glu)
NM_000314.8(PTEN):c.67T>G (p.Leu23Val)	rs876661244
NM_000314.8(PTEN):c.801G>T (p.Lys267Asn)	rs1554825266
NM_000314.8(PTEN):c.946_947del (p.Leu316fs)	rs1860627982

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