ClinVar Miner

List of variants reported as benign for attenuated familial adenomatous polyposis by Department of Pathology and Laboratory Medicine, Sinai Health System

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.2469-15G>A rs5744833 0.07057
NM_000038.6(APC):c.7704A>G (p.Gly2568=) rs35043160 0.02992
NM_006231.4(POLE):c.5678+4C>T rs5744973 0.01405
NM_002691.4(POLD1):c.849G>T (p.Gln283His) rs113282414 0.01085
NM_006231.4(POLE):c.5804G>A (p.Cys1935Tyr) rs5744991 0.00898
NM_006231.4(POLE):c.1323G>A (p.Pro441=) rs116573514 0.00106
NM_000038.6(APC):c.7781C>G (p.Ser2594Cys) rs543396310 0.00002
NM_000038.6(APC):c.7821C>T (p.Ser2607=) rs532235331 0.00002
NM_002691.4(POLD1):c.1791C>T (p.Pro597=) rs138293440 0.00002

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