ClinVar Miner

List of variants reported as likely benign for Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

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ClinVar version:
Total variants: 131
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HGVS dbSNP gnomAD frequency
NM_005359.6(SMAD4):c.*3398A>G rs182735651 0.00515
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) rs1801250 0.00228
NM_005359.6(SMAD4):c.*4748C>T rs375580807 0.00175
NM_005359.6(SMAD4):c.*2488T>A rs148190627 0.00169
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys) rs140743238 0.00104
NM_005359.6(SMAD4):c.*2914C>T rs147352474 0.00075
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320 0.00071
NM_005359.6(SMAD4):c.*6009G>C rs181250637 0.00070
NM_005359.6(SMAD4):c.*4378T>G rs540039847 0.00050
NM_005359.6(SMAD4):c.880A>G (p.Met294Val) rs7238500 0.00050
NM_005359.6(SMAD4):c.*6492A>T rs569819237 0.00049
NM_005359.6(SMAD4):c.*4862A>G rs139595540 0.00045
NM_005359.6(SMAD4):c.1392C>T (p.Ala464=) rs140487104 0.00033
NM_005359.6(SMAD4):c.*5801T>C rs577928234 0.00021
NM_005359.6(SMAD4):c.521C>A (p.Thr174Asn) rs138800446 0.00014
NM_005359.6(SMAD4):c.582A>G (p.Thr194=) rs145805120 0.00012
NM_005359.6(SMAD4):c.*12G>A rs148687037 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.667+9T>C rs776523203 0.00006
NM_005359.6(SMAD4):c.1608A>G (p.Leu536=) rs753128184 0.00005
NM_005359.6(SMAD4):c.1647A>G (p.Gln549=) rs113545983 0.00005
NM_005359.6(SMAD4):c.-401C>T rs555375675 0.00004
NM_005359.6(SMAD4):c.1218G>A (p.Ala406=) rs145097078 0.00004
NM_005359.6(SMAD4):c.1236C>T (p.Tyr412=) rs121912577 0.00004
NM_005359.6(SMAD4):c.1644A>G (p.Pro548=) rs756795016 0.00004
NM_005359.6(SMAD4):c.1653A>G (p.Leu551=) rs199526820 0.00004
NM_005359.6(SMAD4):c.228A>G (p.Arg76=) rs587780556 0.00004
NM_005359.6(SMAD4):c.1215C>T (p.His405=) rs751732234 0.00003
NM_005359.6(SMAD4):c.1461T>A (p.Ala487=) rs769607309 0.00003
NM_005359.6(SMAD4):c.411A>G (p.Val137=) rs201296880 0.00003
NM_005359.6(SMAD4):c.84A>G (p.Gln28=) rs778465458 0.00003
NM_005359.6(SMAD4):c.1140-11T>A rs1224777335 0.00002
NM_005359.6(SMAD4):c.132A>G (p.Val44=) rs965942065 0.00002
NM_005359.6(SMAD4):c.1611C>T (p.Asp537=) rs369598262 0.00002
NM_005359.6(SMAD4):c.294C>T (p.Leu98=) rs202126703 0.00002
NM_005359.6(SMAD4):c.342T>C (p.Tyr114=) rs757211048 0.00002
NM_005359.6(SMAD4):c.369T>C (p.Cys123=) rs140926102 0.00002
NM_005359.6(SMAD4):c.471G>A (p.Met157Ile) rs780716382 0.00002
NM_005359.6(SMAD4):c.*334C>T rs534790830 0.00001
NM_005359.6(SMAD4):c.*4643T>C rs369040052 0.00001
NM_005359.6(SMAD4):c.-9C>G rs864622289 0.00001
NM_005359.6(SMAD4):c.1005A>G (p.Val335=) rs878854762 0.00001
NM_005359.6(SMAD4):c.1059C>T (p.Tyr353=) rs863224400 0.00001
NM_005359.6(SMAD4):c.1098A>G (p.Gln366=) rs990054989 0.00001
NM_005359.6(SMAD4):c.1140G>A (p.Arg380=) rs1060504025 0.00001
NM_005359.6(SMAD4):c.1263A>G (p.Ala421=) rs1406947861 0.00001
NM_005359.6(SMAD4):c.1353G>A (p.Ala451=) rs1441353791 0.00001
NM_005359.6(SMAD4):c.1371A>G (p.Ala457=) rs750933193 0.00001
NM_005359.6(SMAD4):c.1422A>C (p.Ser474=) rs786201261 0.00001
NM_005359.6(SMAD4):c.1492T>C (p.Leu498=) rs1057520520 0.00001
NM_005359.6(SMAD4):c.150A>G (p.Lys50=) rs749503989 0.00001
NM_005359.6(SMAD4):c.160T>C (p.Leu54=) rs1053158497 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.250-14G>A rs1180310843 0.00001
NM_005359.6(SMAD4):c.276T>C (p.His92=) rs762501162 0.00001
NM_005359.6(SMAD4):c.298A>C (p.Arg100=) rs751154230 0.00001
NM_005359.6(SMAD4):c.336T>A (p.Val112=) rs1328102060 0.00001
NM_005359.6(SMAD4):c.375T>C (p.Ser125=) rs863224401 0.00001
NM_005359.6(SMAD4):c.387T>C (p.Asn129=) rs150229208 0.00001
NM_005359.6(SMAD4):c.390A>G (p.Pro130=) rs755862230 0.00001
NM_005359.6(SMAD4):c.399C>T (p.Tyr133=) rs779069779 0.00001
NM_005359.6(SMAD4):c.408T>C (p.Val136=) rs1283790116 0.00001
NM_005359.6(SMAD4):c.449G>A (p.Ser150Asn) rs750355699 0.00001
NM_005359.6(SMAD4):c.594A>C (p.Pro198=) rs547278031 0.00001
NM_005359.6(SMAD4):c.667+3G>A rs757971589 0.00001
NM_005359.6(SMAD4):c.668-11T>G rs1469889617 0.00001
NM_005359.6(SMAD4):c.668-6C>G rs748992694 0.00001
NM_005359.6(SMAD4):c.668-7C>T rs1060504028 0.00001
NM_005359.6(SMAD4):c.672G>A (p.Gln224=) rs1397172791 0.00001
NM_005359.6(SMAD4):c.693C>T (p.Gly231=) rs765597059 0.00001
NM_005359.6(SMAD4):c.768G>A (p.Gln256=) rs755677513 0.00001
NM_005359.6(SMAD4):c.789C>T (p.Asn263=) rs763510526 0.00001
NM_005359.6(SMAD4):c.855C>T (p.Asn285=) rs1187796771 0.00001
NM_005359.6(SMAD4):c.870C>T (p.His290=) rs1060504029 0.00001
NM_005359.6(SMAD4):c.876G>A (p.Pro292=) rs753358186 0.00001
NM_005359.6(SMAD4):c.888C>G (p.Pro296=) rs1060504026 0.00001
NM_005359.6(SMAD4):c.894C>T (p.Pro298=) rs781519690 0.00001
NM_005359.6(SMAD4):c.*1864C>A rs561442548
NM_005359.6(SMAD4):c.*1G>C rs1555687622
NM_005359.6(SMAD4):c.1101C>A (p.Leu367=) rs765051479
NM_005359.6(SMAD4):c.1140-6C>T rs1599196889
NM_005359.6(SMAD4):c.1206T>A (p.Leu402=) rs758696549
NM_005359.6(SMAD4):c.1248A>G (p.Arg416=) rs786202472
NM_005359.6(SMAD4):c.1257G>C (p.Gly419=) rs1303474905
NM_005359.6(SMAD4):c.1309-13T>G
NM_005359.6(SMAD4):c.1311C>G (p.Val437=) rs751539807
NM_005359.6(SMAD4):c.1380C>T (p.Ala460=) rs1910480314
NM_005359.6(SMAD4):c.1479T>C (p.Asp493=) rs1568211528
NM_005359.6(SMAD4):c.1494A>G (p.Leu498=) rs772479430
NM_005359.6(SMAD4):c.1512T>C (p.Ser504=) rs1599205322
NM_005359.6(SMAD4):c.1533G>A (p.Pro511=) rs1057523968
NM_005359.6(SMAD4):c.1545A>G (p.Arg515=) rs760840557
NM_005359.6(SMAD4):c.1599C>G (p.Leu533=)
NM_005359.6(SMAD4):c.15T>C (p.Ser5=)
NM_005359.6(SMAD4):c.1606C>T (p.Leu536=) rs587780790
NM_005359.6(SMAD4):c.1632G>A (p.Pro544=) rs549489716
NM_005359.6(SMAD4):c.168T>A (p.Ser56=) rs1333506128
NM_005359.6(SMAD4):c.177A>G (p.Thr59=) rs774480995
NM_005359.6(SMAD4):c.216T>C (p.Val72=)
NM_005359.6(SMAD4):c.21G>T (p.Thr7=) rs142292491
NM_005359.6(SMAD4):c.250-10A>G rs1599182364
NM_005359.6(SMAD4):c.264A>G (p.Lys88=) rs1555685155
NM_005359.6(SMAD4):c.39T>C (p.Asn13=) rs376371717
NM_005359.6(SMAD4):c.425-11A>C
NM_005359.6(SMAD4):c.455-4A>G rs1599186761
NM_005359.6(SMAD4):c.455-8C>T rs1057520412
NM_005359.6(SMAD4):c.474G>A (p.Val158=) rs749594930
NM_005359.6(SMAD4):c.507G>A (p.Gln169=) rs876659426
NM_005359.6(SMAD4):c.513G>A (p.Ser171=) rs1210446538
NM_005359.6(SMAD4):c.522T>C (p.Thr174=)
NM_005359.6(SMAD4):c.591C>T (p.Thr197=) rs1464524083
NM_005359.6(SMAD4):c.609A>G (p.Pro203=) rs2144419276
NM_005359.6(SMAD4):c.633T>C (p.Thr211=) rs1060504027
NM_005359.6(SMAD4):c.652C>G (p.Pro218Ala) rs1345146274
NM_005359.6(SMAD4):c.664A>G (p.Thr222Ala) rs770461626
NM_005359.6(SMAD4):c.711G>T (p.Leu237=) rs2144426991
NM_005359.6(SMAD4):c.756A>G (p.Gly252=) rs1244121412
NM_005359.6(SMAD4):c.788-14G>T rs769943457
NM_005359.6(SMAD4):c.792C>T (p.Ser264=) rs1555685951
NM_005359.6(SMAD4):c.812G>A (p.Ser271Asn) rs1343555503
NM_005359.6(SMAD4):c.816G>A (p.Arg272=) rs1231028123
NM_005359.6(SMAD4):c.905-7T>C
NM_005359.6(SMAD4):c.909T>C (p.Pro303=) rs141149381
NM_005359.6(SMAD4):c.909T>G (p.Pro303=) rs141149381
NM_005359.6(SMAD4):c.915C>T (p.His305=) rs1909959040
NM_005359.6(SMAD4):c.921G>A (p.Glu307=) rs876660255
NM_005359.6(SMAD4):c.924T>C (p.Leu308=) rs864622414
NM_005359.6(SMAD4):c.954T>C (p.Pro318=) rs773615487

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