ClinVar Miner

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

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NC_000010.10:g.(?_89720598)_(89720635_?)del38
NM_000314.6(PTEN):c.802-3dupT rs34003473
NM_000314.7(PTEN):c.-9C>G rs11202592
NM_000314.7(PTEN):c.802-3del rs34003473
NM_001126049.1(KLLN):c.-897A>G rs869312983
NM_001126049.1(KLLN):c.-898G>A rs538728843
NM_003002.4(SDHD):c.204C>T (p.Ser68=) rs9919552
NM_005163.2(AKT1):c.1251C>T (p.Tyr417=) rs139297659
NM_005163.2(AKT1):c.604C>T (p.Leu202=) rs2230506
NM_006218.4(PIK3CA):c.*29T>C rs141178472
NM_006218.4(PIK3CA):c.3075C>T (p.Thr1025=) rs17849079
NM_006363.6(SEC23B):c.490G>T (p.Val164Leu) rs36023150

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