ClinVar Miner

List of variants in gene BMPR1A reported as benign for Generalized juvenile polyposis/juvenile polyposis coli

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_004329.3(BMPR1A):c.4C>A (p.Pro2Thr) rs11528010 0.40719
NM_004329.3(BMPR1A):c.1343-11T>C rs7074064 0.40534
NM_004329.3(BMPR1A):c.435G>A (p.Pro145=) rs11818239 0.04296
NM_004329.3(BMPR1A):c.675+12G>A rs12267107 0.04183
NM_004329.3(BMPR1A):c.1342+6A>G rs55763614 0.02404
NM_004329.3(BMPR1A):c.1140C>T (p.Asp380=) rs35572415 0.01512
NM_004329.3(BMPR1A):c.-25A>G rs116346662 0.01322
NM_004329.3(BMPR1A):c.*654A>G rs575853350 0.00329
NM_004329.3(BMPR1A):c.*1342G>C rs189436139 0.00167
NM_004329.3(BMPR1A):c.*47T>A rs542274831 0.00130
NM_004329.3(BMPR1A):c.*422C>T rs186843872 0.00129
NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys) rs35619497 0.00081
NM_004329.3(BMPR1A):c.1419T>G (p.Val473=) rs145756629 0.00058
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056 0.00051
NM_004329.3(BMPR1A):c.*1224A>G rs557287047 0.00011
NM_004329.3(BMPR1A):c.961C>T (p.Leu321=) rs377412651 0.00011
NM_004329.3(BMPR1A):c.676-5T>C rs200537780 0.00001
NM_004329.3(BMPR1A):c.*542G>T rs575024211

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