ClinVar Miner

List of variants reported as likely benign for ovarian cancer by Department of Pathology and Laboratory Medicine, Sinai Health System

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_002691.4(POLD1):c.433G>A (p.Ala145Thr) rs137953986 0.00253
NM_024675.4(PALB2):c.1810C>T (p.Leu604=) rs144015319 0.00202
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402 0.00096
NM_032043.3(BRIP1):c.1935+11G>A rs79121306 0.00051
NM_000455.5(STK11):c.1071G>T (p.Glu357Asp) rs556651007 0.00013
NM_006231.4(POLE):c.3378+7G>T rs755370377 0.00008
NM_024675.4(PALB2):c.828C>T (p.His276=) rs911713488 0.00001
NM_032043.3(BRIP1):c.1455T>C (p.Ala485=) rs773489367 0.00001
NM_000455.5(STK11):c.504T>C (p.His168=) rs754986576
NM_000455.5(STK11):c.837C>A (p.Gly279=) rs373021819
NM_000465.4(BARD1):c.1438T>C (p.Leu480=) rs786203220
NM_007294.4(BRCA1):c.1106_1108del (p.Asp369del) rs80358325

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