ClinVar Miner

List of variants in gene PTEN reported as uncertain significance for not specified

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Gene type:
ClinVar version:
Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.-461G>A rs1209261790 0.00114
NM_000314.8(PTEN):c.804C>A (p.Asp268Glu) rs398123328 0.00068
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584 0.00029
NM_000314.8(PTEN):c.-701G>A rs1554890059 0.00019
NM_000314.8(PTEN):c.-734G>A rs786205432 0.00013
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) rs371387815 0.00009
NM_000314.8(PTEN):c.-111G>T rs761148721 0.00006
NM_000314.8(PTEN):c.-105G>T rs1316552000 0.00003
NM_000314.8(PTEN):c.-28C>T rs764917503 0.00003
NM_000314.8(PTEN):c.-731C>T rs886039462 0.00003
NM_000314.8(PTEN):c.-742G>A rs876661008 0.00003
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_000314.8(PTEN):c.-728C>T rs786204870 0.00002
NM_000314.8(PTEN):c.-765G>A rs587776674 0.00002
NM_000314.8(PTEN):c.-216C>T rs1858381810 0.00001
NM_000314.8(PTEN):c.-692C>T rs1554890066 0.00001
NM_000314.8(PTEN):c.-732G>C rs1399617046 0.00001
NM_000314.8(PTEN):c.-740G>A rs888482160 0.00001
NM_000314.8(PTEN):c.-741C>T rs1310141519 0.00001
NM_000314.8(PTEN):c.1062G>A (p.Pro354=) rs786202751 0.00001
NM_000314.8(PTEN):c.1171C>T (p.Pro391Ser) rs786203911 0.00001
NM_000314.8(PTEN):c.210-9T>C rs751744545 0.00001
NM_000314.8(PTEN):c.440A>G (p.Lys147Arg) rs757087471 0.00001
NM_000314.8(PTEN):c.635-8C>A rs780495238 0.00001
NM_000314.8(PTEN):c.801+8C>G rs1057517630 0.00001
NM_000314.8(PTEN):c.*10del rs756681683
NM_000314.8(PTEN):c.*6T>C rs1064794975
NM_000314.8(PTEN):c.-462G>A rs886047388
NM_000314.8(PTEN):c.-500GGC[7] rs1237307954
NM_000314.8(PTEN):c.-696C>G rs1554890065
NM_000314.8(PTEN):c.-720G>A rs960387107
NM_000314.8(PTEN):c.-729C>T rs1554890049
NM_000314.8(PTEN):c.-730C>G rs786204869
NM_000314.8(PTEN):c.-735G>A rs886047384
NM_000314.8(PTEN):c.-735G>C rs886047384
NM_000314.8(PTEN):c.-751G>T
NM_000314.8(PTEN):c.-752G>A rs1256922808
NM_000314.8(PTEN):c.-771G>A rs786202516
NM_000314.8(PTEN):c.-773C>T rs922418729
NM_000314.8(PTEN):c.-777G>C rs1064795132
NM_000314.8(PTEN):c.1018A>C (p.Asn340His) rs759852661
NM_000314.8(PTEN):c.101C>T (p.Ala34Val) rs1554893773
NM_000314.8(PTEN):c.1064C>T (p.Ser355Leu) rs2132289421
NM_000314.8(PTEN):c.1066A>G (p.Asn356Asp) rs587782345
NM_000314.8(PTEN):c.1066A>T (p.Asn356Tyr) rs587782345
NM_000314.8(PTEN):c.107G>A (p.Gly36Glu) rs1554893792
NM_000314.8(PTEN):c.1130A>T (p.Tyr377Phe) rs751286806
NM_000314.8(PTEN):c.149T>C (p.Ile50Thr) rs1554893824
NM_000314.8(PTEN):c.166T>A (p.Phe56Ile) rs1589640376
NM_000314.8(PTEN):c.193T>A (p.Tyr65Asn) rs587780005
NM_000314.8(PTEN):c.197A>T (p.Lys66Met) rs1564826805
NM_000314.8(PTEN):c.209+3A>G rs786202612
NM_000314.8(PTEN):c.210-7C>T
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.210-8del rs1554897849
NM_000314.8(PTEN):c.226_228del (p.Tyr76del) rs1554897864
NM_000314.8(PTEN):c.287C>G (p.Pro96Arg) rs1554898074
NM_000314.8(PTEN):c.402_404del (p.Met134del) rs1554898152
NM_000314.8(PTEN):c.410C>G (p.Ala137Gly)
NM_000314.8(PTEN):c.46T>C (p.Tyr16His) rs1064796078
NM_000314.8(PTEN):c.478A>C (p.Thr160Pro) rs1060500128
NM_000314.8(PTEN):c.492+3A>G rs1564830529
NM_000314.8(PTEN):c.504T>G (p.Ile168Met)
NM_000314.8(PTEN):c.512A>G (p.Gln171Arg) rs786204865
NM_000314.8(PTEN):c.521A>G (p.Tyr174Cys) rs864622341
NM_000314.8(PTEN):c.615G>A (p.Met205Ile) rs1554900653
NM_000314.8(PTEN):c.634+5G>C rs138336847
NM_000314.8(PTEN):c.656A>C (p.Gln219Pro) rs1554825172
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.725A>T (p.Glu242Val) rs1860545768
NM_000314.8(PTEN):c.734A>C (p.Gln245Pro) rs1057518538
NM_000314.8(PTEN):c.80-1_80del rs1554893747
NM_000314.8(PTEN):c.80-8del rs1060503844
NM_000314.8(PTEN):c.802-3T>A rs587780712
NM_000314.8(PTEN):c.808A>G (p.Met270Val) rs1554825502
NM_000314.8(PTEN):c.824T>C (p.Val275Ala)
NM_000314.8(PTEN):c.835T>C (p.Phe279Leu)
NM_000314.8(PTEN):c.838A>G (p.Ile280Val) rs1474354667
NM_000314.8(PTEN):c.881G>A (p.Ser294Asn) rs1175543698
NM_000314.8(PTEN):c.914G>A (p.Ser305Asn) rs587780007
NM_000314.8(PTEN):c.922C>T (p.Arg308Cys) rs1064794436
NM_000314.8(PTEN):c.935A>G (p.Asp312Gly) rs863224667
NM_000314.8(PTEN):c.95T>C (p.Ile32Thr) rs1057518329
NM_000314.8(PTEN):c.984_998dup (p.Lys330_Asn334dup) rs1057518539

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