ClinVar Miner

List of variants reported as likely benign for PTEN hamartoma tumor syndrome by Invitae

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Total variants: 31
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HGVS dbSNP
NM_000314.7(PTEN):c.-798G>C rs587779992
NM_000314.7(PTEN):c.1011T>C (p.Phe337=) rs876659916
NM_000314.7(PTEN):c.1017A>G (p.Pro339=) rs1554825644
NM_000314.7(PTEN):c.1026+9A>C rs1554825657
NM_000314.7(PTEN):c.1092T>G (p.Ser364=) rs1355576298
NM_000314.7(PTEN):c.1107T>C (p.Val369=) rs1554826048
NM_000314.7(PTEN):c.204C>T (p.Tyr68=) rs773176120
NM_000314.7(PTEN):c.216T>C (p.Ala72=) rs1057520862
NM_000314.7(PTEN):c.254-10T>C rs1554898047
NM_000314.7(PTEN):c.294A>G (p.Leu98=) rs770224289
NM_000314.7(PTEN):c.444A>C (p.Ala148=) rs778663292
NM_000314.7(PTEN):c.492+7T>G rs373077590
NM_000314.7(PTEN):c.493-6C>T rs1554900496
NM_000314.7(PTEN):c.493-9G>T rs1554900490
NM_000314.7(PTEN):c.522T>C (p.Tyr174=) rs786201867
NM_000314.7(PTEN):c.525G>C (p.Val175=) rs1554900563
NM_000314.7(PTEN):c.54G>A (p.Glu18=) rs1554890388
NM_000314.7(PTEN):c.576A>G (p.Ala192=) rs1554900619
NM_000314.7(PTEN):c.579G>T (p.Leu193=) rs568851024
NM_000314.7(PTEN):c.660A>C (p.Leu220=) rs1352585442
NM_000314.7(PTEN):c.681C>T (p.Ser227=) rs768662424
NM_000314.7(PTEN):c.6A>C (p.Thr2=) rs1168115184
NM_000314.7(PTEN):c.72C>T (p.Asp24=) rs1320222638
NM_000314.7(PTEN):c.738G>A (p.Pro246=) rs774364894
NM_000314.7(PTEN):c.753T>A (p.Gly251=) rs1554825232
NM_000314.7(PTEN):c.795A>C (p.Leu265=) rs891648600
NM_000314.7(PTEN):c.801+7A>T rs1211730867
NM_000314.7(PTEN):c.801+8C>G rs1057517630
NM_000314.7(PTEN):c.819T>C (p.Phe273=) rs876658729
NM_000314.7(PTEN):c.828T>C (p.Asn276=) rs1554825510
NM_001126049.1(KLLN):c.-840G>A rs563841270

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