List of variants in gene PTEN reported as pathogenic for Inborn genetic diseases

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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.1026+1G>C	rs786201041
NM_000314.8(PTEN):c.164+1_164+5del	rs1859100502
NM_000314.8(PTEN):c.309del (p.Cys105fs)	rs1554898088
NM_000314.8(PTEN):c.373A>G (p.Lys125Glu)	rs1554898127
NM_000314.8(PTEN):c.385G>A (p.Gly129Arg)	rs786204929
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys)	rs1060500126
NM_000314.8(PTEN):c.640C>T (p.Gln214Ter)	rs121909227
NM_000314.8(PTEN):c.956_960del (p.Thr319fs)	rs1589666094

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