ClinVar Miner

List of variants in gene PTEN reported as uncertain significance by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) rs371387815 0.00009
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_000314.8(PTEN):c.425G>A (p.Arg142Gln) rs753630034 0.00001
NM_000314.8(PTEN):c.78C>T (p.Thr26=) rs786201280 0.00001
NM_000314.8(PTEN):c.841C>G (p.Pro281Ala) rs750705904 0.00001
NM_000314.8(PTEN):c.*67_*68insG
NM_000314.8(PTEN):c.-122C>T
NM_000314.8(PTEN):c.-254C>T
NM_000314.8(PTEN):c.-319C>A
NM_000314.8(PTEN):c.-540_-477del
NM_000314.8(PTEN):c.-766G>A rs587782580
NM_000314.8(PTEN):c.1024_1026del (p.Lys342del)
NM_000314.8(PTEN):c.253+4_253+7del rs876659695
NM_000314.8(PTEN):c.34A>C (p.Asn12His) rs1554890340
NM_000314.8(PTEN):c.397G>A (p.Val133Ile) rs1859977307
NM_000314.8(PTEN):c.653G>C (p.Cys218Ser) rs1860540059
NM_000314.8(PTEN):c.723T>G (p.Phe241Leu) rs17849090
NM_000314.8(PTEN):c.734_735delinsCC (p.Gln245Pro)
NM_000314.8(PTEN):c.906C>G (p.Ser302Arg) rs876660906
NM_000314.8(PTEN):c.914G>A (p.Ser305Asn) rs587780007
NM_000314.8(PTEN):c.922C>T (p.Arg308Cys) rs1064794436

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