ClinVar Miner

List of variants reported as likely benign for Generalized juvenile polyposis/juvenile polyposis coli

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_004329.3(BMPR1A):c.*886C>T rs149499991 0.06527
NM_004329.3(BMPR1A):c.*764T>C rs150762162 0.06254
NM_005359.6(SMAD4):c.455-6A>G rs181178864 0.00269
NM_004329.3(BMPR1A):c.618A>G (p.Leu206=) rs55992440 0.00257
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) rs1801250 0.00228
NM_004329.3(BMPR1A):c.777G>A (p.Ala259=) rs56108371 0.00192
NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys) rs35619497 0.00081
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320 0.00071
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056 0.00051
NM_005359.6(SMAD4):c.880A>G (p.Met294Val) rs7238500 0.00050
NM_005359.6(SMAD4):c.1392C>T (p.Ala464=) rs140487104 0.00033
NM_005359.6(SMAD4):c.102A>G (p.Thr34=) rs146104321 0.00032
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His) rs113849804 0.00025
NM_005359.6(SMAD4):c.904+14T>C rs200973136 0.00017
NM_004329.3(BMPR1A):c.676-6A>C rs186999445 0.00014
NM_004329.3(BMPR1A):c.530+13T>G rs367550999 0.00010
NM_005359.6(SMAD4):c.21G>A (p.Thr7=) rs142292491 0.00010
NM_005359.6(SMAD4):c.424+5G>A rs200772603 0.00010
NM_005359.6(SMAD4):c.852A>G (p.Gln284=) rs144378484 0.00008
NM_005359.6(SMAD4):c.606C>G (p.Ala202=) rs780665234 0.00006
NM_005359.6(SMAD4):c.667+9T>C rs776523203 0.00006
NM_004329.3(BMPR1A):c.1474-9A>G rs372031054 0.00004
NM_005359.6(SMAD4):c.1653A>G (p.Leu551=) rs199526820 0.00004
NM_004329.3(BMPR1A):c.198C>T (p.His66=) rs150493865 0.00003
NM_004329.3(BMPR1A):c.510C>T (p.Phe170=) rs747266339 0.00003
NM_004329.3(BMPR1A):c.530+12T>C rs976070262 0.00003
NM_004329.3(BMPR1A):c.68-12A>G rs201120747 0.00003
NM_005359.6(SMAD4):c.1140-11T>A rs1224777335 0.00002
NM_004329.3(BMPR1A):c.1059A>G (p.Gln353=) rs1060503407 0.00001
NM_004329.3(BMPR1A):c.751G>T (p.Gly251Cys) rs750513716 0.00001
NM_005359.6(SMAD4):c.*30A>C rs767288576 0.00001
NM_005359.6(SMAD4):c.1422A>C (p.Ser474=) rs786201261 0.00001
NM_005359.6(SMAD4):c.249+10A>C rs752243771 0.00001
NM_005359.6(SMAD4):c.249+9T>C rs770523387 0.00001
NM_005359.6(SMAD4):c.693C>T (p.Gly231=) rs765597059 0.00001
NM_004329.3(BMPR1A):c.1166+14del rs1554891117
NM_004329.3(BMPR1A):c.1167-13T>G rs1057517581
NM_004329.3(BMPR1A):c.334-16A>G rs143279531
NM_004329.3(BMPR1A):c.993G>A (p.Leu331=) rs786202827
NM_005359.5(SMAD4):c.(?_-1)_249+?dup
NM_005359.6(SMAD4):c.1248A>G (p.Arg416=) rs786202472
NM_005359.6(SMAD4):c.956-7C>T rs778959035

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