List of variants in gene PTEN reported as pathogenic by Eurofins NTD LLC (GA)

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.1003C>T (p.Arg335Ter)	rs121909231
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln)	rs121909229
NM_000314.8(PTEN):c.511C>T (p.Gln171Ter)	rs786204864
NM_000314.8(PTEN):c.551dup (p.Asn184fs)	rs1554900606
NM_000314.8(PTEN):c.634+2T>G	rs727504114
NM_000314.8(PTEN):c.635-2A>G	rs1564566706
NM_000314.8(PTEN):c.80-1_80del	rs1554893747
NM_000314.8(PTEN):c.827del (p.Asn276fs)	rs886044679
NM_000314.8(PTEN):c.956_959del (p.Thr319fs)	rs398123330

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