ClinVar Miner

List of variants in gene PTEN reported as pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 9
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HGVS dbSNP
NM_000314.6(PTEN):c.80-1_80delGA rs1554893747
NM_000314.7(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.7(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.7(PTEN):c.511C>T (p.Gln171Ter) rs786204864
NM_000314.7(PTEN):c.551dup (p.Asn184fs) rs1554900606
NM_000314.7(PTEN):c.634+2T>G rs727504114
NM_000314.7(PTEN):c.635-2A>G rs1564566706
NM_000314.7(PTEN):c.827del (p.Asn276fs) rs886044679
NM_000314.7(PTEN):c.956_959del (p.Thr319fs) rs398123330

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