ClinVar Miner

List of variants in gene PTEN reported as uncertain significance by Clingen PTEN Variant Curation Expert Panel, Clingen

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Gene type:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.*5T>C rs1006891299 0.00005
NM_000314.8(PTEN):c.159A>G (p.Val53=) rs189583426 0.00003
NM_000314.8(PTEN):c.-765G>A rs587776674 0.00002
NM_000314.8(PTEN):c.1093G>A (p.Val365Ile) rs758542021 0.00001
NM_000314.8(PTEN):c.114T>G (p.Pro38=) rs748040144 0.00001
NM_000314.8(PTEN):c.1171C>T (p.Pro391Ser) rs786203911 0.00001
NM_000314.8(PTEN):c.253+4G>A rs1060500112 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.*10del rs756681683
NM_000314.8(PTEN):c.1027-4C>G rs587782788
NM_000314.8(PTEN):c.1052_1054del (p.Val351del) rs587780003
NM_000314.8(PTEN):c.105G>A (p.Met35Ile) rs1554893782
NM_000314.8(PTEN):c.1061C>T (p.Pro354Leu) rs375709098
NM_000314.8(PTEN):c.10A>G (p.Ile4Val)
NM_000314.8(PTEN):c.1105G>A (p.Val369Ile) rs587782224
NM_000314.8(PTEN):c.112C>T (p.Pro38Ser) rs587780004
NM_000314.8(PTEN):c.1133_1136del (p.Arg378fs) rs1064794878
NM_000314.8(PTEN):c.209+3A>T rs786202612
NM_000314.8(PTEN):c.304A>C (p.Lys102Gln) rs786202944
NM_000314.8(PTEN):c.304_306dup (p.Lys102dup) rs587782641
NM_000314.8(PTEN):c.338G>T (p.Ser113Ile) rs587781254
NM_000314.8(PTEN):c.344A>G (p.Asp115Gly) rs869312775
NM_000314.8(PTEN):c.355G>T (p.Val119Phe) rs139767111
NM_000314.8(PTEN):c.35A>G (p.Asn12Ser) rs1085308044
NM_000314.8(PTEN):c.364A>G (p.Ile122Val) rs786202740
NM_000314.8(PTEN):c.39_41del (p.Arg15del) rs1114167625
NM_000314.8(PTEN):c.40A>G (p.Arg14Gly) rs1085308047
NM_000314.8(PTEN):c.42G>A (p.Arg14=) rs1064794513
NM_000314.8(PTEN):c.46T>C (p.Tyr16His) rs1064796078
NM_000314.8(PTEN):c.493-7C>T rs1554900492
NM_000314.8(PTEN):c.545T>C (p.Leu182Ser) rs794729664
NM_000314.8(PTEN):c.599T>C (p.Phe200Ser) rs786204867
NM_000314.8(PTEN):c.685T>A (p.Ser229Thr) rs587781998
NM_000314.8(PTEN):c.698G>A (p.Arg233Gln) rs770025422
NM_000314.8(PTEN):c.700C>T (p.Arg234Trp) rs786201730
NM_000314.8(PTEN):c.701G>A (p.Arg234Gln) rs121909235
NM_000314.8(PTEN):c.715A>G (p.Met239Val) rs786201758
NM_000314.8(PTEN):c.79+20C>G rs587781291
NM_000314.8(PTEN):c.79+7A>T rs374331677
NM_000314.8(PTEN):c.80-5C>T rs1060503842
NM_000314.8(PTEN):c.802-3T>A rs587780712
NM_000314.8(PTEN):c.838A>G (p.Ile280Val) rs1474354667
NM_000314.8(PTEN):c.914G>A (p.Ser305Asn) rs587780007
NM_000314.8(PTEN):c.947T>C (p.Leu316Pro) rs1064793345
NM_000314.8(PTEN):c.98T>C (p.Ile33Thr) rs1554893771

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