ClinVar Miner

List of variants reported as likely pathogenic for PTEN hamartoma tumor syndrome

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Total variants: 122
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.269T>C (p.Phe90Ser) rs1859965098 0.00001
NM_000314.8(PTEN):c.518G>A (p.Arg173His) rs121913294 0.00001
NC_000010.10:g.(?_89653180)_(89653844_?)del
NC_000010.10:g.(?_89685260)_(89685324_?)del
NC_000010.10:g.(?_89685260)_(89693018_?)dup
NC_000010.10:g.(?_89711865)_(89712026_?)dup
NC_000010.10:g.(?_89725034)_(89725321_?)del
NC_000010.11:g.(?_87952108)_(87958029_?)del
NM_000314.6(PTEN):c.802delG (p.Asp268Thrfs) rs587776672
NM_000314.8(PTEN):c.1026G>T (p.Lys342Asn) rs398123314
NM_000314.8(PTEN):c.1029_1039del (p.Lys344fs) rs1064796236
NM_000314.8(PTEN):c.1034T>G (p.Leu345Arg) rs1554826024
NM_000314.8(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000314.8(PTEN):c.105G>A (p.Met35Ile) rs1554893782
NM_000314.8(PTEN):c.106G>A (p.Gly36Arg) rs786204854
NM_000314.8(PTEN):c.106G>C (p.Gly36Arg) rs786204854
NM_000314.8(PTEN):c.1116_1119del (p.Glu373fs) rs1554826049
NM_000314.8(PTEN):c.1137_1140del (p.Arg378_Tyr379insTer) rs2132289978
NM_000314.8(PTEN):c.1139del (p.Ser380fs) rs2132289992
NM_000314.8(PTEN):c.1168G>T (p.Glu390Ter) rs2132290171
NM_000314.8(PTEN):c.140G>A (p.Arg47Lys) rs1057518425
NM_000314.8(PTEN):c.152ATG[1] (p.Asp52del) rs1589617371
NM_000314.8(PTEN):c.156_164+4delinsCAT
NM_000314.8(PTEN):c.165-17_165del rs1554897240
NM_000314.8(PTEN):c.165-1G>A rs786203847
NM_000314.8(PTEN):c.165-9T>A rs878853934
NM_000314.8(PTEN):c.170T>G (p.Leu57Trp) rs786202398
NM_000314.8(PTEN):c.181C>G (p.His61Asp) rs121909236
NM_000314.8(PTEN):c.182A>G (p.His61Arg) rs398123316
NM_000314.8(PTEN):c.200T>G (p.Ile67Arg)
NM_000314.8(PTEN):c.202T>G (p.Tyr68Asp) rs398123317
NM_000314.8(PTEN):c.209+2047A>G
NM_000314.8(PTEN):c.209+2T>C rs878853937
NM_000314.8(PTEN):c.209T>C (p.Leu70Pro) rs121909226
NM_000314.8(PTEN):c.210-6_210-2del rs1564828909
NM_000314.8(PTEN):c.210-7_220del
NM_000314.8(PTEN):c.253+1dup rs876660082
NM_000314.8(PTEN):c.253+5G>A rs1554897889
NM_000314.8(PTEN):c.253+5G>C rs1554897889
NM_000314.8(PTEN):c.254-1G>A rs1057520208
NM_000314.8(PTEN):c.254-1del rs2132241961
NM_000314.8(PTEN):c.270dup (p.Glu91Ter) rs1114167678
NM_000314.8(PTEN):c.274G>T (p.Asp92Tyr) rs1554898067
NM_000314.8(PTEN):c.277C>G (p.His93Asp) rs786204927
NM_000314.8(PTEN):c.278A>C (p.His93Pro) rs121909238
NM_000314.8(PTEN):c.284C>T (p.Pro95Leu) rs786204856
NM_000314.8(PTEN):c.287C>T (p.Pro96Leu) rs1554898074
NM_000314.8(PTEN):c.293T>G (p.Leu98Arg) rs781647403
NM_000314.8(PTEN):c.302T>A (p.Ile101Asn) rs1339631701
NM_000314.8(PTEN):c.314G>A (p.Cys105Tyr) rs587782343
NM_000314.8(PTEN):c.331T>C (p.Trp111Arg) rs398123321
NM_000314.8(PTEN):c.344A>G (p.Asp115Gly) rs869312775
NM_000314.8(PTEN):c.35A>T (p.Asn12Ile) rs1085308044
NM_000314.8(PTEN):c.367C>G (p.His123Asp) rs786204931
NM_000314.8(PTEN):c.367C>T (p.His123Tyr) rs786204931
NM_000314.8(PTEN):c.376G>A (p.Ala126Thr) rs1554898129
NM_000314.8(PTEN):c.376G>C (p.Ala126Pro) rs1554898129
NM_000314.8(PTEN):c.377C>T (p.Ala126Val) rs1114167656
NM_000314.8(PTEN):c.37A>C (p.Lys13Gln) rs1554890348
NM_000314.8(PTEN):c.37A>G (p.Lys13Glu) rs1554890348
NM_000314.8(PTEN):c.382A>G (p.Lys128Glu) rs1554898138
NM_000314.8(PTEN):c.384G>C (p.Lys128Asn) rs1114167645
NM_000314.8(PTEN):c.385G>A (p.Gly129Arg) rs786204929
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000314.8(PTEN):c.401T>C (p.Met134Thr) rs1085308046
NM_000314.8(PTEN):c.402G>C (p.Met134Ile) rs1114167676
NM_000314.8(PTEN):c.422A>C (p.His141Pro) rs863224666
NM_000314.8(PTEN):c.422A>T (p.His141Leu)
NM_000314.8(PTEN):c.441_442delinsA (p.Ala148fs) rs1114167641
NM_000314.8(PTEN):c.44G>A (p.Arg15Lys) rs398123324
NM_000314.8(PTEN):c.44G>C (p.Arg15Thr) rs398123324
NM_000314.8(PTEN):c.45A>T (p.Arg15Ser) rs1064794096
NM_000314.8(PTEN):c.476G>A (p.Arg159Lys) rs1114167673
NM_000314.8(PTEN):c.477G>T (p.Arg159Ser) rs1057519724
NM_000314.8(PTEN):c.492+1G>A rs1554898242
NM_000314.8(PTEN):c.492+1G>T rs1554898242
NM_000314.8(PTEN):c.492+1_492+5del rs1554898238
NM_000314.8(PTEN):c.492+2T>G rs1554898244
NM_000314.8(PTEN):c.492+2del rs1060500124
NM_000314.8(PTEN):c.500C>A (p.Thr167Asn) rs397514559
NM_000314.8(PTEN):c.509G>A (p.Ser170Asn) rs876660507
NM_000314.8(PTEN):c.518G>C (p.Arg173Pro) rs121913294
NM_000314.8(PTEN):c.520T>A (p.Tyr174Asn) rs587782316
NM_000314.8(PTEN):c.521A>G (p.Tyr174Cys) rs864622341
NM_000314.8(PTEN):c.522T>G (p.Tyr174Ter) rs786201867
NM_000314.8(PTEN):c.564T>A (p.Tyr188Ter) rs606231170
NM_000314.8(PTEN):c.593T>A (p.Met198Lys) rs1554900635
NM_000314.8(PTEN):c.599T>C (p.Phe200Ser) rs786204867
NM_000314.8(PTEN):c.59G>T (p.Gly20Val) rs1064795967
NM_000314.8(PTEN):c.634+5G>C rs138336847
NM_000314.8(PTEN):c.635-32_643del
NM_000314.8(PTEN):c.635-3C>G rs1085308056
NM_000314.8(PTEN):c.64G>C (p.Asp22His) rs876660420
NM_000314.8(PTEN):c.67T>G (p.Leu23Val) rs876661244
NM_000314.8(PTEN):c.696del (p.Arg233fs) rs587776669
NM_000314.8(PTEN):c.70G>C (p.Asp24His) rs786201995
NM_000314.8(PTEN):c.71A>G (p.Asp24Gly) rs797044910
NM_000314.8(PTEN):c.71A>T (p.Asp24Val) rs797044910
NM_000314.8(PTEN):c.722T>C (p.Phe241Ser) rs121909240
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000314.8(PTEN):c.740T>C (p.Leu247Ser) rs1057519368
NM_000314.8(PTEN):c.746T>G (p.Val249Gly) rs2132277407
NM_000314.8(PTEN):c.761_765del (p.Lys254fs) rs606231169
NM_000314.8(PTEN):c.765_766insTTC (p.Val255_Glu256insPhe) rs2132277565
NM_000314.8(PTEN):c.77C>A (p.Thr26Asn) rs786204853
NM_000314.8(PTEN):c.79+1G>A
NM_000314.8(PTEN):c.79+1G>C rs2132146122
NM_000314.8(PTEN):c.80-1G>C rs786204914
NM_000314.8(PTEN):c.80-1_80del rs1554893747
NM_000314.8(PTEN):c.80-2A>C rs2132187034
NM_000314.8(PTEN):c.801G>T (p.Lys267Asn) rs1554825266
NM_000314.8(PTEN):c.802-2del rs886047397
NM_000314.8(PTEN):c.802-4_804delinsA rs1064792911
NM_000314.8(PTEN):c.80A>C (p.Tyr27Ser) rs886041877
NM_000314.8(PTEN):c.80A>G (p.Tyr27Cys) rs886041877
NM_000314.8(PTEN):c.830C>G (p.Thr277Arg) rs398123329
NM_000314.8(PTEN):c.884_900delinsG (p.Leu295fs) rs1114167680
NM_000314.8(PTEN):c.91A>G (p.Asn31Asp) rs1859093459
NM_000314.8(PTEN):c.929A>G (p.Asp310Gly) rs1564568473
NM_000314.8(PTEN):c.94ATT[1] (p.Ile33del) rs1554893765
NM_000314.8(PTEN):c.964A>T (p.Lys322Ter) rs786202004
NM_000314.8(PTEN):c.977A>G (p.Asp326Gly) rs1860631246

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