ClinVar Miner

List of variants in gene PTEN reported by Quest Diagnostics Nichols Institute San Juan Capistrano

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.-165C>G rs575260016 0.00267
NM_000314.8(PTEN):c.210-39A>G rs370918174 0.00177
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.882T>G (p.Ser294Arg) rs143335584 0.00029
NM_000314.8(PTEN):c.234C>T (p.Thr78=) rs35917308 0.00016
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.-714G>A rs587779989 0.00006
NM_000314.8(PTEN):c.720C>T (p.Tyr240=) rs190070312 0.00006
NM_000314.8(PTEN):c.*10T>A rs769236743 0.00004
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_000314.8(PTEN):c.159A>G (p.Val53=) rs189583426 0.00003
NM_000314.8(PTEN):c.79+16G>C rs768604051 0.00003
NM_000314.8(PTEN):c.1078A>G (p.Ser360Gly) rs587781273 0.00002
NM_000314.8(PTEN):c.456A>G (p.Leu152=) rs779626613 0.00002
NM_000314.8(PTEN):c.1062G>A (p.Pro354=) rs786202751 0.00001
NM_000314.8(PTEN):c.321T>C (p.Asp107=) rs372876243 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000314.8(PTEN):c.72C>T (p.Asp24=) rs1320222638 0.00001
NM_000314.8(PTEN):c.783G>A (p.Gln261=) rs760146269 0.00001
NM_000314.8(PTEN):c.78C>T (p.Thr26=) rs786201280 0.00001
NM_000314.8(PTEN):c.887G>A (p.Cys296Tyr) rs1060500121 0.00001
NM_000314.8(PTEN):c.901G>A (p.Asp301Asn) rs758644748 0.00001
NM_000314.8(PTEN):c.*10del rs756681683
NM_000314.8(PTEN):c.*10dup rs756681683
NM_000314.8(PTEN):c.-32CCT[1] rs749497048
NM_000314.8(PTEN):c.-354G>A rs1242894494
NM_000314.8(PTEN):c.-369_-368dup
NM_000314.8(PTEN):c.-500GGC[6] rs1237307954
NM_000314.8(PTEN):c.-500GGC[7] rs1237307954
NM_000314.8(PTEN):c.-54C>T
NM_000314.8(PTEN):c.-58C>T
NM_000314.8(PTEN):c.-65A>C
NM_000314.8(PTEN):c.-729C>T rs1554890049
NM_000314.8(PTEN):c.-735G>A rs886047384
NM_000314.8(PTEN):c.-735G>C rs886047384
NM_000314.8(PTEN):c.-9C>T rs11202592
NM_000314.8(PTEN):c.1010T>C (p.Phe337Ser)
NM_000314.8(PTEN):c.1027-4C>G rs587782788
NM_000314.8(PTEN):c.1066A>G (p.Asn356Asp) rs587782345
NM_000314.8(PTEN):c.1075G>T (p.Ala359Ser) rs864622594
NM_000314.8(PTEN):c.1126C>G (p.His376Asp)
NM_000314.8(PTEN):c.1130A>T (p.Tyr377Phe) rs751286806
NM_000314.8(PTEN):c.1133_1136del (p.Arg378fs) rs1064794878
NM_000314.8(PTEN):c.1137T>G (p.Tyr379Ter) rs1295420243
NM_000314.8(PTEN):c.1161A>G (p.Pro387=) rs1057523975
NM_000314.8(PTEN):c.13_14insC (p.Ile5fs) rs2132145444
NM_000314.8(PTEN):c.156_164+4delinsCAT
NM_000314.8(PTEN):c.160G>A (p.Val54Ile) rs786204916
NM_000314.8(PTEN):c.165-9_170del rs1859801386
NM_000314.8(PTEN):c.174T>C (p.Asp58=) rs769719835
NM_000314.8(PTEN):c.176C>A (p.Ser59Ter) rs1060500116
NM_000314.8(PTEN):c.206A>G (p.Asn69Ser) rs786204922
NM_000314.8(PTEN):c.209+9_209+10delinsCC rs1060503841
NM_000314.8(PTEN):c.210-1G>A rs1114167621
NM_000314.8(PTEN):c.210-47C>T rs1444454603
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.210-8del rs1554897849
NM_000314.8(PTEN):c.253+5G>T rs1554897889
NM_000314.8(PTEN):c.266C>G (p.Pro89Arg) rs1554898059
NM_000314.8(PTEN):c.309del (p.Cys105fs) rs1554898088
NM_000314.8(PTEN):c.367C>T (p.His123Tyr) rs786204931
NM_000314.8(PTEN):c.368A>G (p.His123Arg) rs121909222
NM_000314.8(PTEN):c.386_387delinsTT (p.Gly129Val) rs1554898141
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000314.8(PTEN):c.402G>C (p.Met134Ile) rs1114167676
NM_000314.8(PTEN):c.402G>T (p.Met134Ile) rs1114167676
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.8(PTEN):c.475A>G (p.Arg159Gly) rs786202688
NM_000314.8(PTEN):c.478A>C (p.Thr160Pro) rs1060500128
NM_000314.8(PTEN):c.510T>G (p.Ser170Arg) rs121909221
NM_000314.8(PTEN):c.521A>G (p.Tyr174Cys) rs864622341
NM_000314.8(PTEN):c.538T>C (p.Tyr180His) rs746280047
NM_000314.8(PTEN):c.545T>G (p.Leu182Ter) rs794729664
NM_000314.8(PTEN):c.548dup (p.Asn184fs) rs1554900593
NM_000314.8(PTEN):c.582G>A (p.Leu194=) rs1860422594
NM_000314.8(PTEN):c.592ATG[1] (p.Met199del) rs1064793244
NM_000314.8(PTEN):c.634+1G>T rs1114167622
NM_000314.8(PTEN):c.672_673insC (p.Tyr225fs) rs2132276692
NM_000314.8(PTEN):c.677C>T (p.Ser226Phe) rs2132276728
NM_000314.8(PTEN):c.685T>A (p.Ser229Thr) rs587781998
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.8(PTEN):c.699A>G (p.Arg233=) rs1589663321
NM_000314.8(PTEN):c.738del (p.Leu247fs)
NM_000314.8(PTEN):c.781C>T (p.Gln261Ter) rs730882131
NM_000314.8(PTEN):c.79+41C>G
NM_000314.8(PTEN):c.799_800insTT (p.Lys267fs) rs1860552294
NM_000314.8(PTEN):c.801G>T (p.Lys267Asn) rs1554825266
NM_000314.8(PTEN):c.822G>A (p.Trp274Ter) rs587782607
NM_000314.8(PTEN):c.825A>G (p.Val275=) rs1860617849
NM_000314.8(PTEN):c.870A>G (p.Val290=) rs529155918
NM_000314.8(PTEN):c.914G>T (p.Ser305Ile) rs587780007
NM_000314.8(PTEN):c.922C>T (p.Arg308Cys) rs1064794436
NM_000314.8(PTEN):c.929del (p.Asp310fs) rs1589665989
NM_000314.8(PTEN):c.935A>G (p.Asp312Gly) rs863224667

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