ClinVar Miner

List of variants reported as likely benign for PTEN hamartoma tumor syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.*1745G>A rs116248217 0.00644
NM_000314.8(PTEN):c.132C>T (p.Gly44=) rs150651961 0.00168
NM_000314.8(PTEN):c.*421T>C rs141648241 0.00051
NM_000314.8(PTEN):c.234C>T (p.Thr78=) rs35917308 0.00016
NM_000314.8(PTEN):c.*601A>G rs371547288 0.00008
NM_000314.8(PTEN):c.855A>G (p.Glu285=) rs751888926 0.00003
NM_000314.8(PTEN):c.*1131del rs547262170
NM_000314.8(PTEN):c.*666dup rs543873570
NM_000314.8(PTEN):c.-534G>T rs886047385
NM_000314.8(PTEN):c.-675C>T rs876661258
NM_001126049.2(KLLN):c.-955G>T rs587781128

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