List of variants in gene PTEN reported as likely pathogenic by Centogene AG - the Rare Disease Company

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp)	rs121909241
NM_000314.8(PTEN):c.3_27del (p.Met1fs)	rs2132145338
NM_000314.8(PTEN):c.529T>C (p.Tyr177His)	rs1860418425
NM_000314.8(PTEN):c.898del (p.Ile300fs)	rs2132282499
NM_000314.8(PTEN):c.966_996del (p.Asn323fs)	rs2132283188

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