ClinVar Miner

List of variants studied for PTEN hamartoma tumor syndrome by Cancer Genomic Medicine Translational Research Lab,Cleveland Clinic Genomic Medicine Institute

Included ClinVar conditions (19):
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ClinVar version:
Total variants: 34
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HGVS dbSNP
NM_000314.6(PTEN):c.210-4_210-1delTTAG rs1554897854
NM_000314.7(PTEN):c.1026+1G>A rs786201041
NM_000314.7(PTEN):c.1026+1G>C rs786201041
NM_000314.7(PTEN):c.1027-2A>C rs1085308041
NM_000314.7(PTEN):c.165-1G>C rs786203847
NM_000314.7(PTEN):c.165-2A>G rs1085308043
NM_000314.7(PTEN):c.209+4_209+7del rs398123318
NM_000314.7(PTEN):c.209+5G>A rs1114167650
NM_000314.7(PTEN):c.210-1G>A rs1114167621
NM_000314.7(PTEN):c.210-39A>G rs370918174
NM_000314.7(PTEN):c.210-7_210-3del rs587780544
NM_000314.7(PTEN):c.210-8del rs1554897849
NM_000314.7(PTEN):c.253+1G>A rs587776667
NM_000314.7(PTEN):c.253+1G>T rs587776667
NM_000314.7(PTEN):c.253+5G>A rs1554897889
NM_000314.7(PTEN):c.253+5G>T rs1554897889
NM_000314.7(PTEN):c.254-30dup rs77494260
NM_000314.7(PTEN):c.254-51A>T rs1554898040
NM_000314.7(PTEN):c.254-72A>T rs1554898037
NM_000314.7(PTEN):c.492+1G>T rs1554898242
NM_000314.7(PTEN):c.493-2A>G rs587781784
NM_000314.7(PTEN):c.493-31A>G rs550267891
NM_000314.7(PTEN):c.493-52A>G rs1043121029
NM_000314.7(PTEN):c.634+1G>C rs1114167622
NM_000314.7(PTEN):c.634+2T>C rs727504114
NM_000314.7(PTEN):c.634+4A>T rs1554900675
NM_000314.7(PTEN):c.634+5G>C rs138336847
NM_000314.7(PTEN):c.635-1G>C rs876661024
NM_000314.7(PTEN):c.79+7A>G rs374331677
NM_000314.7(PTEN):c.80-3C>G rs1554893746
NM_000314.7(PTEN):c.802-2A>G rs587782455
NM_000314.7(PTEN):c.802-2A>T rs587782455
NM_000314.7(PTEN):c.802-51_802-14del rs557364463
NM_005228.5(EGFR):c.977G>T (p.Cys326Phe) rs886037891

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