ClinVar Miner

List of variants in gene PTEN reported as benign for PTEN hamartoma tumor syndrome

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.1026+32T>G rs555895 0.40232
NM_000314.8(PTEN):c.*1516T>C rs701848 0.32619
NM_000314.8(PTEN):c.*2185C>T rs11202607 0.06759
NM_000314.8(PTEN):c.*2415C>G rs34761252 0.01809
NM_000314.8(PTEN):c.*1565C>A rs34140758 0.01132
NM_000314.8(PTEN):c.*1955T>A rs41284072 0.01082
NM_000314.8(PTEN):c.*1954A>T rs35914322 0.00268
NM_000314.8(PTEN):c.-165C>G rs575260016 0.00267
NM_000314.8(PTEN):c.*2162A>G rs574993688 0.00216
NM_000314.8(PTEN):c.*2173C>T rs186996550 0.00211
NM_000314.8(PTEN):c.*1945G>A rs567800059 0.00201
NM_000314.8(PTEN):c.*1702G>A rs150265244 0.00200
NM_000314.8(PTEN):c.*353C>T rs181234898 0.00200
NM_000314.8(PTEN):c.*788T>C rs138309082 0.00200
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.-9C>G rs11202592 0.00139
NM_000314.8(PTEN):c.79+35C>T rs190707033 0.00130
NM_000314.8(PTEN):c.*1620T>C rs568474293 0.00127
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584 0.00029
NM_000314.8(PTEN):c.-152A>G rs369849061 0.00018
NM_000314.8(PTEN):c.*1695C>A rs141857855 0.00016
NM_000314.8(PTEN):c.234C>T (p.Thr78=) rs35917308 0.00016
NM_000314.8(PTEN):c.802-12T>C rs587781129 0.00015
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_000314.8(PTEN):c.579G>A (p.Leu193=) rs568851024 0.00010
NM_000314.8(PTEN):c.720C>T (p.Tyr240=) rs190070312 0.00006
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_000314.8(PTEN):c.*1237A>G rs547879223 0.00001
NC_000010.11:g.(?_87960841)_(87960878_?)del
NM_000314.8(PTEN):c.*75del rs878853930
NM_000314.8(PTEN):c.-284C>T rs552470098
NM_000314.8(PTEN):c.-511G>A rs12573787
NM_000314.8(PTEN):c.-512G>A rs886047387
NM_000314.8(PTEN):c.164+19dup rs771776683
NM_000314.8(PTEN):c.210-16del rs1859918519
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.210-8del rs1554897849
NM_000314.8(PTEN):c.254-23C>T rs1396031556
NM_000314.8(PTEN):c.254-26A>T rs757177445
NM_000314.8(PTEN):c.254-29C>T rs753720712
NM_000314.8(PTEN):c.254-30dup rs77494260
NM_000314.8(PTEN):c.254-8dup rs767806773
NM_000314.8(PTEN):c.492+14del
NM_000314.8(PTEN):c.492+14dup rs1064793690
NM_000314.8(PTEN):c.493-12del
NM_000314.8(PTEN):c.493-12dup rs756623620
NM_000314.8(PTEN):c.577C>T (p.Leu193=) rs772631069
NM_000314.8(PTEN):c.802-3del rs34003473
NM_000314.8(PTEN):c.802-3dup rs34003473
NM_000314.8(PTEN):c.802-51_802-14del rs557364463
NM_000314.8(PTEN):c.802-5_802-3del rs34003473

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