ClinVar Miner

List of variants in gene PTEN reported as pathogenic by Cancer Genomic Medicine Translational Research Lab, Cleveland Clinic Genomic Medicine Institute

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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.802-2A>T rs587782455 0.00005
NM_000314.8(PTEN):c.79+7A>G rs374331677 0.00001
NM_000314.8(PTEN):c.1026+1G>A rs786201041
NM_000314.8(PTEN):c.1026+1G>C rs786201041
NM_000314.8(PTEN):c.1027-2A>C rs1085308041
NM_000314.8(PTEN):c.165-1G>C rs786203847
NM_000314.8(PTEN):c.165-2A>G rs1085308043
NM_000314.8(PTEN):c.209+4_209+7del rs398123318
NM_000314.8(PTEN):c.209+5G>A rs1114167650
NM_000314.8(PTEN):c.210-1G>A rs1114167621
NM_000314.8(PTEN):c.210-2_211del rs1554897854
NM_000314.8(PTEN):c.253+1G>A rs587776667
NM_000314.8(PTEN):c.253+1G>T rs587776667
NM_000314.8(PTEN):c.253+5G>A rs1554897889
NM_000314.8(PTEN):c.253+5G>T rs1554897889
NM_000314.8(PTEN):c.492+1G>T rs1554898242
NM_000314.8(PTEN):c.493-2A>G rs587781784
NM_000314.8(PTEN):c.634+1G>C rs1114167622
NM_000314.8(PTEN):c.634+2T>C rs727504114
NM_000314.8(PTEN):c.634+4A>T rs1554900675
NM_000314.8(PTEN):c.634+5G>C rs138336847
NM_000314.8(PTEN):c.635-1G>C rs876661024
NM_000314.8(PTEN):c.802-2A>G rs587782455

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