ClinVar Miner

List of variants in gene PTEN reported by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000314.8(PTEN):c.166T>A (p.Phe56Ile) rs1589640376
NM_000314.8(PTEN):c.16A>G (p.Lys6Glu) rs1589596143
NM_000314.8(PTEN):c.209+1G>A rs1554897280
NM_000314.8(PTEN):c.209+2T>C rs878853937
NM_000314.8(PTEN):c.277C>A (p.His93Asn) rs786204927
NM_000314.8(PTEN):c.48T>G (p.Tyr16Ter) rs587782187
NM_000314.8(PTEN):c.734A>C (p.Gln245Pro) rs1057518538

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