ClinVar Miner

List of variants in gene PTEN reported as likely benign by Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.-165C>G rs575260016 0.00267
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.-461G>A rs1209261790 0.00114
NM_000314.8(PTEN):c.801+23G>A rs116160352 0.00091
NM_000314.8(PTEN):c.802-34C>A rs531071483 0.00039
NM_000314.8(PTEN):c.234C>T (p.Thr78=) rs35917308 0.00016
NM_000314.8(PTEN):c.1197A>G (p.Gln399=) rs374684043 0.00012
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_000314.8(PTEN):c.254-39G>T rs35034871 0.00011
NM_000314.8(PTEN):c.720C>T (p.Tyr240=) rs190070312 0.00006
NM_000314.8(PTEN):c.164+28A>G rs754309090 0.00002
NM_000314.8(PTEN):c.210-9T>C rs751744545 0.00001
NM_000314.8(PTEN):c.*10dup rs756681683
NM_000314.8(PTEN):c.-313A>C rs1014763428
NM_000314.8(PTEN):c.-500GGC[6] rs1237307954
NM_000314.8(PTEN):c.1026+28G>C
NM_000314.8(PTEN):c.150T>C (p.Ile50=)
NM_000314.8(PTEN):c.165-24TTTG[2] rs786204877
NM_000314.8(PTEN):c.210-42T>C
NM_000314.8(PTEN):c.222A>G (p.Arg74=) rs781542973
NM_000314.8(PTEN):c.354T>C (p.His118=) rs1564830090
NM_000314.8(PTEN):c.477G>A (p.Arg159=)
NM_000314.8(PTEN):c.492+14T>A rs1057523132
NM_000314.8(PTEN):c.493-34dup
NM_000314.8(PTEN):c.493-46G>A
NM_000314.8(PTEN):c.534T>C (p.Tyr178=) rs104894184
NM_000314.8(PTEN):c.540C>T (p.Tyr180=) rs786202733
NM_000314.8(PTEN):c.634+7G>A
NM_000314.8(PTEN):c.67T>C (p.Leu23=)
NM_000314.8(PTEN):c.79+30C>T
NM_000314.8(PTEN):c.79+33T>A
NM_000314.8(PTEN):c.802-18_802-14del rs786204879
NM_000314.8(PTEN):c.802-18_802-16del rs1354236529
NM_000314.8(PTEN):c.802-24T>C
NM_000314.8(PTEN):c.802-4_802-3del rs34003473
NM_000314.8(PTEN):c.802-4_802-3dup rs34003473

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