ClinVar Miner

List of variants in gene PTEN reported by University of Washington Department of Laboratory Medicine, University of Washington

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.492+5832A>G rs7896192 0.02026
NM_000314.8(PTEN):c.493-7489A>G rs76052269 0.01965
NM_000314.8(PTEN):c.1026+121C>T rs536465299 0.01737
NM_000314.8(PTEN):c.79+436C>T rs34370865 0.01385
NM_000314.8(PTEN):c.80-11759G>A rs79835941 0.01046
NM_000314.8(PTEN):c.165-10234C>T rs111627758 0.00866
NM_000314.8(PTEN):c.635-696G>C rs34513359 0.00758
NM_000314.8(PTEN):c.209+769T>C rs34382179 0.00747
NM_000314.8(PTEN):c.80-12951T>C rs142080608 0.00724
NM_000314.8(PTEN):c.80-11414T>C rs114277912 0.00389
NM_000314.8(PTEN):c.79+10657T>C rs34248932 0.00316
NM_000314.8(PTEN):c.80-14058G>C rs182725594 0.00201
NM_000314.8(PTEN):c.164+324G>A rs181780682 0.00200
NM_000314.8(PTEN):c.634+645G>A rs543066886 0.00199
NM_000314.8(PTEN):c.801+281A>G rs559574747 0.00186
NM_000314.8(PTEN):c.79+14412A>G rs148088027 0.00130
NM_000314.8(PTEN):c.79+35C>T rs190707033 0.00130
NM_000314.8(PTEN):c.79+13451A>C rs187125801 0.00118
NM_000314.8(PTEN):c.79+3193A>G rs189221275 0.00066
NM_000314.8(PTEN):c.493-2809A>G rs575960288 0.00048
NM_000314.8(PTEN):c.79+14637T>C rs557466351 0.00041
NM_000314.8(PTEN):c.165-10233G>A rs368333033 0.00038
NM_000314.8(PTEN):c.79+12219A>G rs774019645 0.00030
NM_000314.8(PTEN):c.79+11548A>G rs566066891 0.00019
NM_000314.8(PTEN):c.79+11557A>C rs531847666 0.00011
NM_000314.8(PTEN):c.79+11891T>C rs869312635 0.00007
NM_000314.8(PTEN):c.492+57A>G rs768719539 0.00005
NM_000314.8(PTEN):c.165-9285G>A rs758151355 0.00004
NM_000314.8(PTEN):c.209+239A>G rs754041126 0.00003
NM_000314.8(PTEN):c.79+2379G>A rs869312642 0.00003
NM_000314.8(PTEN):c.493-889G>A rs531033912 0.00002
NM_000314.8(PTEN):c.79+376T>A rs568732002 0.00002
NM_000314.8(PTEN):c.210-2616C>T rs869312631 0.00001
NM_000314.8(PTEN):c.801+1187A>G rs869312641 0.00001
NM_000314.8(PTEN):c.-735G>A rs886047384
NM_000314.8(PTEN):c.1026+111T>C rs766288989
NM_000314.8(PTEN):c.118G>T (p.Glu40Ter) rs869312778
NM_000314.8(PTEN):c.165-9280G>A rs869312639
NM_000314.8(PTEN):c.209+2046C>T rs869312633
NM_000314.8(PTEN):c.209+736A>G rs869312643
NM_000314.8(PTEN):c.344A>G (p.Asp115Gly) rs869312775
NM_000314.8(PTEN):c.408T>G (p.Cys136Trp) rs869312776
NM_000314.8(PTEN):c.424del (p.Arg142fs) rs869312779
NM_000314.8(PTEN):c.486C>G (p.Asp162Glu) rs869312777
NM_000314.8(PTEN):c.492+5850T>A rs869312637
NM_000314.8(PTEN):c.767_768del (p.Glu256fs) rs869312780
NM_000314.8(PTEN):c.79+10771G>T rs869312634
NM_000314.8(PTEN):c.79+10772A>G rs869312632
NM_000314.8(PTEN):c.79+11873T>C rs869312636
NM_000314.8(PTEN):c.79+1409T>C rs869312638
NM_000314.8(PTEN):c.79+369G>A rs748130964
NM_000314.8(PTEN):c.79+4399C>T rs869312645
NM_000314.8(PTEN):c.79+452C>T rs117587034
NM_000314.8(PTEN):c.79+968A>G rs869312646
NM_000314.8(PTEN):c.79+9762G>A rs869312640
NM_000314.8(PTEN):c.802-558T>C rs869312644

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