ClinVar Miner

List of variants in gene PTEN studied for Breast and/or ovarian cancer

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.132C>T (p.Gly44=) rs150651961 0.00168
NM_000314.8(PTEN):c.1104T>C (p.Asp368=) rs35979531 0.00158
NM_000314.8(PTEN):c.-9C>G rs11202592 0.00139
NM_000314.8(PTEN):c.1197A>G (p.Gln399=) rs374684043 0.00012
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_000314.8(PTEN):c.579G>A (p.Leu193=) rs568851024 0.00010
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_000314.8(PTEN):c.855A>G (p.Glu285=) rs751888926 0.00003
NM_000314.8(PTEN):c.802-13T>C rs540097879 0.00002
NM_000314.8(PTEN):c.210-9T>C rs751744545 0.00001
NM_000314.8(PTEN):c.841C>G (p.Pro281Ala) rs750705904 0.00001
NM_000314.8(PTEN):c.*10del rs756681683
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.253+7A>G rs2132239067
NM_000314.8(PTEN):c.450G>A (p.Glu150=) rs757777398
NM_000314.8(PTEN):c.545_546dup (p.Lys183Ter)
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000314.8(PTEN):c.801+9T>C rs1060503839
NM_000314.8(PTEN):c.802-18C>T rs376702513
NM_000314.8(PTEN):c.802-18_802-14del rs786204879
NM_000314.8(PTEN):c.802-3del rs34003473
NM_000314.8(PTEN):c.802-4_802-3del rs34003473
NM_000314.8(PTEN):c.802-4_802-3dup rs34003473
NM_000314.8(PTEN):c.802-51_802-14del rs557364463
NM_000314.8(PTEN):c.802-5_802-3del rs34003473
NM_000314.8(PTEN):c.802-5_802-3dup rs34003473
NM_000314.8(PTEN):c.838A>G (p.Ile280Val) rs1474354667
NM_000314.8(PTEN):c.949G>A (p.Val317Ile) rs876658630

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