ClinVar Miner

List of variants reported as benign for Juvenile polyposis syndrome by KCCC/NGS Laboratory, Kuwait Cancer Control Center

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Total variants: 20
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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.431-26T>A rs7920259 0.06507
NM_005359.6(SMAD4):c.905-52A>G rs948589 0.05280
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_005359.6(SMAD4):c.455-43A>T rs149541014 0.00759
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.1299C>T (p.Phe433=) rs150946485 0.00153
NM_004329.3(BMPR1A):c.1560G>A (p.Thr520=) rs142775086 0.00136
NM_004329.3(BMPR1A):c.1395G>C (p.Pro465=) rs55845713 0.00089
NM_004329.3(BMPR1A):c.1419T>G (p.Val473=) rs145756629 0.00058
NM_004329.3(BMPR1A):c.879G>A (p.Ala293=) rs770203548 0.00007
NM_004329.3(BMPR1A):c.1536C>T (p.Leu512=) rs758796892 0.00001
NM_004329.3(BMPR1A):c.676-5T>C rs200537780 0.00001
NM_005359.6(SMAD4):c.904+35T>A

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