ClinVar Miner

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

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.1026+32T>G rs555895 0.40232
NM_001126049.2(KLLN):c.-898G>A rs538728843 0.00262
NM_000314.8(PTEN):c.132C>T (p.Gly44=) rs150651961 0.00168
NM_000314.8(PTEN):c.1104T>C (p.Asp368=) rs35979531 0.00158
NM_000314.8(PTEN):c.-9C>G rs11202592 0.00139
NM_000314.8(PTEN):c.79+35C>T rs190707033 0.00130
NM_001126049.2(KLLN):c.-840G>A rs563841270 0.00036
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584 0.00029
NM_000314.8(PTEN):c.234C>T (p.Thr78=) rs35917308 0.00016
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_000314.8(PTEN):c.579G>A (p.Leu193=) rs568851024 0.00010
NM_000314.8(PTEN):c.720C>T (p.Tyr240=) rs190070312 0.00006
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NC_000010.11:g.(?_87960841)_(87960878_?)del
NM_000314.8(PTEN):c.*75del rs878853930
NM_000314.8(PTEN):c.-511G>A rs12573787
NM_000314.8(PTEN):c.164+19dup rs771776683
NM_000314.8(PTEN):c.210-16del rs1859918519
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.210-8del rs1554897849
NM_000314.8(PTEN):c.254-8dup rs767806773
NM_000314.8(PTEN):c.492+14del
NM_000314.8(PTEN):c.492+14dup rs1064793690
NM_000314.8(PTEN):c.493-12del
NM_000314.8(PTEN):c.493-12dup rs756623620
NM_000314.8(PTEN):c.802-3del rs34003473
NM_000314.8(PTEN):c.802-3dup rs34003473
NM_000314.8(PTEN):c.802-51_802-14del rs557364463
NM_001126049.2(KLLN):c.-897A>G rs869312983

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