List of variants in gene PTEN reported as pathogenic by Mayo Clinic Laboratories, Mayo Clinic

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: 8

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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.518G>A (p.Arg173His)	rs121913294	0.00001
NM_000314.8(PTEN):c.165-1G>A	rs786203847
NM_000314.8(PTEN):c.323T>C (p.Leu108Pro)	rs1064793243
NM_000314.8(PTEN):c.491del (p.Lys164fs)	rs786204900
NM_000314.8(PTEN):c.493-2A>G	rs587781784
NM_000314.8(PTEN):c.565A>T (p.Arg189Ter)	rs1554900615
NM_000314.8(PTEN):c.955_958del (p.Leu318_Thr319insTer)	rs146650273

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