ClinVar Miner

List of variants studied for generalized juvenile polyposis/juvenile polyposis coli by Illumina Laboratory Services, Illumina

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 235
Download table as spreadsheet
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.-349T>C rs34755052 0.29033
NM_005359.6(SMAD4):c.*5131A>G rs12456284 0.19420
NM_005359.6(SMAD4):c.*5535A>G rs75712226 0.07867
NM_005359.6(SMAD4):c.*5547A>G rs11662245 0.07079
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.*6423G>C rs2282544 0.04514
NM_004329.3(BMPR1A):c.435G>A (p.Pro145=) rs11818239 0.04296
NM_004329.3(BMPR1A):c.675+12G>A rs12267107 0.04183
NM_005359.6(SMAD4):c.*685A>C rs16952798 0.03369
NM_005359.6(SMAD4):c.*1179T>C rs10470 0.02819
NM_004329.3(BMPR1A):c.1342+6A>G rs55763614 0.02404
NM_005359.6(SMAD4):c.*5553A>G rs867342943 0.01606
NM_005359.6(SMAD4):c.*5534C>G rs923444877 0.01573
NM_005359.6(SMAD4):c.*5170C>T rs117142232 0.01554
NM_004329.3(BMPR1A):c.1140C>T (p.Asp380=) rs35572415 0.01512
NM_005359.6(SMAD4):c.*5083G>A rs145596898 0.01488
NM_005359.6(SMAD4):c.*5555A>G rs1047967021 0.01458
NM_004329.3(BMPR1A):c.-25A>G rs116346662 0.01322
NM_005359.6(SMAD4):c.*5545G>A rs752846586 0.01214
NM_005359.6(SMAD4):c.*2122A>G rs149424787 0.01125
NM_005359.6(SMAD4):c.*6513C>T rs76020793 0.00838
NM_005359.6(SMAD4):c.*5549A>G rs777856072 0.00617
NM_005359.6(SMAD4):c.*5557A>G rs1414914656 0.00550
NM_005359.6(SMAD4):c.*11C>T rs11663402 0.00538
NM_005359.6(SMAD4):c.*3398A>G rs182735651 0.00515
NM_005359.6(SMAD4):c.*3662C>T rs114852346 0.00503
NM_005359.6(SMAD4):c.*5578G>C rs867684157 0.00469
NM_005359.6(SMAD4):c.*1820T>G rs141309481 0.00426
NM_004329.3(BMPR1A):c.*654A>G rs575853350 0.00329
NM_005359.6(SMAD4):c.*5551A>G rs202140561 0.00329
NM_005359.6(SMAD4):c.*5259A>T rs139414609 0.00320
NM_005359.6(SMAD4):c.*2796G>T rs4939651 0.00278
NM_005359.6(SMAD4):c.*5419T>C rs146551171 0.00277
NM_005359.6(SMAD4):c.455-6A>G rs181178864 0.00269
NM_005359.6(SMAD4):c.354G>A (p.Ala118=) rs145988618 0.00268
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) rs1801250 0.00228
NM_005359.6(SMAD4):c.1140-10T>C rs186332162 0.00221
NM_005359.6(SMAD4):c.*2989A>G rs139526377 0.00208
NM_004329.3(BMPR1A):c.777G>A (p.Ala259=) rs56108371 0.00192
NM_005359.6(SMAD4):c.*4748C>T rs375580807 0.00175
NM_005359.6(SMAD4):c.*2488T>A rs148190627 0.00169
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_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_004329.3(BMPR1A):c.*1194A>G rs546825674 0.00065
NM_005359.6(SMAD4):c.*202A>G rs765823244 0.00064
NM_005359.6(SMAD4):c.*2361A>G rs143842829 0.00061
NM_005359.6(SMAD4):c.*2962C>T rs543699844 0.00059
NM_004329.3(BMPR1A):c.1419T>G (p.Val473=) rs145756629 0.00058
NM_005359.6(SMAD4):c.*5627G>A rs185010226 0.00055
NM_005359.6(SMAD4):c.*1874C>G rs761701805 0.00053
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056 0.00051
NM_005359.6(SMAD4):c.*4378T>G rs540039847 0.00050
NM_005359.6(SMAD4):c.*5541G>A rs1025975410 0.00050
NM_005359.6(SMAD4):c.*6492A>T rs569819237 0.00049
NM_005359.6(SMAD4):c.*6522C>T rs183472455 0.00047
NM_005359.6(SMAD4):c.*4862A>G rs139595540 0.00045
NM_005359.6(SMAD4):c.*4066C>T rs772166247 0.00036
NM_005359.6(SMAD4):c.*412A>G rs28403611 0.00036
NM_004329.3(BMPR1A):c.*321C>T rs546449017 0.00035
NM_005359.6(SMAD4):c.1392C>T (p.Ala464=) rs140487104 0.00033
NM_005359.6(SMAD4):c.-495C>G rs886053886 0.00032
NM_004329.3(BMPR1A):c.*487A>G rs886047362 0.00031
NM_005359.6(SMAD4):c.*1659C>A rs574896468 0.00026
NM_004329.3(BMPR1A):c.*85G>A rs531153431 0.00024
NM_005359.6(SMAD4):c.*4262T>G rs371901376 0.00021
NM_005359.6(SMAD4):c.*5801T>C rs577928234 0.00021
NM_004329.3(BMPR1A):c.676-6A>C rs186999445 0.00014
NM_004329.3(BMPR1A):c.*1426C>T rs886047365 0.00013
NM_005359.6(SMAD4):c.*1187A>G rs181664459 0.00012
NM_004329.3(BMPR1A):c.*1224A>G rs557287047 0.00011
NM_004329.3(BMPR1A):c.*869T>G rs913973227 0.00011
NM_004329.3(BMPR1A):c.961C>T (p.Leu321=) rs377412651 0.00011
NM_005359.6(SMAD4):c.*1661C>A rs989803194 0.00011
NM_005359.6(SMAD4):c.*2217G>A rs1035391862 0.00011
NM_005359.6(SMAD4):c.*2353C>T rs550660083 0.00011
NM_005359.6(SMAD4):c.*5096C>A rs761008429 0.00011
NM_004329.3(BMPR1A):c.-473G>A rs886047357 0.00010
NM_004329.3(BMPR1A):c.530+13T>G rs367550999 0.00010
NM_005359.6(SMAD4):c.*12G>A rs148687037 0.00010
NM_005359.6(SMAD4):c.*1812T>G rs557065270 0.00010
NM_005359.6(SMAD4):c.*5235C>G rs755051361 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_004329.3(BMPR1A):c.33G>A (p.Leu11=) rs535411352 0.00009
NM_005359.6(SMAD4):c.*3763C>T rs571174422 0.00009
NM_005359.6(SMAD4):c.*969A>G rs745934938 0.00009
NM_005359.6(SMAD4):c.852A>G (p.Gln284=) rs144378484 0.00008
NM_004329.3(BMPR1A):c.-336C>T rs371471802 0.00007
NM_005359.6(SMAD4):c.*5542C>T rs778816929 0.00007
NM_005359.6(SMAD4):c.*5833G>A rs190039588 0.00007
NM_004329.3(BMPR1A):c.*67T>G rs560698193 0.00006
NM_005359.6(SMAD4):c.*2793T>G rs886053909 0.00006
NM_005359.6(SMAD4):c.*5745T>C rs780866822 0.00006
NM_005359.6(SMAD4):c.*81T>G rs886053894 0.00006
NM_004329.3(BMPR1A):c.*1349G>T rs886047364 0.00005
NM_004329.3(BMPR1A):c.83G>A (p.Ser28Asn) rs371904636 0.00005
NM_005359.6(SMAD4):c.*1067G>A rs542839921 0.00005
NM_005359.6(SMAD4):c.*218A>G rs886053895 0.00005
NM_004329.3(BMPR1A):c.1498A>G (p.Met500Val) rs376651641 0.00004
NM_005359.6(SMAD4):c.*1386G>T rs553408737 0.00004
NM_005359.6(SMAD4):c.*170A>G rs1179236471 0.00004
NM_005359.6(SMAD4):c.*259T>C rs1178398899 0.00004
NM_005359.6(SMAD4):c.*3223A>G rs1202921300 0.00004
NM_005359.6(SMAD4):c.*837A>G rs886053897 0.00004
NM_005359.6(SMAD4):c.-333C>A rs886053888 0.00004
NM_005359.6(SMAD4):c.-401C>T rs555375675 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_004329.3(BMPR1A):c.-137A>G rs886047360 0.00003
NM_005359.6(SMAD4):c.*3506C>T rs886053913 0.00003
NM_005359.6(SMAD4):c.*363C>T rs939737709 0.00003
NM_005359.6(SMAD4):c.*5282T>G rs1389511065 0.00003
NM_005359.6(SMAD4):c.*850G>A rs886053898 0.00003
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met) rs372316981 0.00003
NM_004329.3(BMPR1A):c.1068C>T (p.Pro356=) rs759520915 0.00002
NM_005359.6(SMAD4):c.*1457C>T rs886053901 0.00002
NM_005359.6(SMAD4):c.*245T>C rs753295366 0.00002
NM_005359.6(SMAD4):c.*2675A>C rs1352805500 0.00002
NM_005359.6(SMAD4):c.*2682T>C rs557955183 0.00002
NM_005359.6(SMAD4):c.*2693A>G rs778780100 0.00002
NM_005359.6(SMAD4):c.*5080A>G rs532965680 0.00002
NM_005359.6(SMAD4):c.*580A>G rs1421486746 0.00002
NM_005359.6(SMAD4):c.342T>C (p.Tyr114=) rs757211048 0.00002
NM_004329.3(BMPR1A):c.*335G>T rs1185798745 0.00001
NM_004329.3(BMPR1A):c.*662A>G rs1288197063 0.00001
NM_004329.3(BMPR1A):c.*664C>T rs886047363 0.00001
NM_004329.3(BMPR1A):c.-468G>A rs1230247470 0.00001
NM_004329.3(BMPR1A):c.-500A>C rs1027922647 0.00001
NM_004329.3(BMPR1A):c.-534G>A rs1257043581 0.00001
NM_004329.3(BMPR1A):c.1549A>G (p.Ile517Val) rs754607465 0.00001
NM_004329.3(BMPR1A):c.676-5T>C rs200537780 0.00001
NM_004329.3(BMPR1A):c.676G>T (p.Val226Phe) rs587780110 0.00001
NM_004329.3(BMPR1A):c.751G>T (p.Gly251Cys) rs750513716 0.00001
NM_004329.3(BMPR1A):c.987A>C (p.Arg329Ser) rs753521037 0.00001
NM_005359.6(SMAD4):c.*1277G>T rs886053900 0.00001
NM_005359.6(SMAD4):c.*1315G>A rs1006483392 0.00001
NM_005359.6(SMAD4):c.*1499T>G rs973805114 0.00001
NM_005359.6(SMAD4):c.*1608T>C rs1269516250 0.00001
NM_005359.6(SMAD4):c.*1786A>G rs1036389216 0.00001
NM_005359.6(SMAD4):c.*2354G>A rs886053905 0.00001
NM_005359.6(SMAD4):c.*2897G>A rs772039050 0.00001
NM_005359.6(SMAD4):c.*30A>C rs767288576 0.00001
NM_005359.6(SMAD4):c.*3186T>C rs886053911 0.00001
NM_005359.6(SMAD4):c.*332A>G rs975068806 0.00001
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.*4707G>A rs1265840002 0.00001
NM_005359.6(SMAD4):c.*579G>T rs1013268028 0.00001
NM_005359.6(SMAD4):c.*5985A>G rs886053934 0.00001
NM_005359.6(SMAD4):c.*605A>C rs1910543316 0.00001
NM_005359.6(SMAD4):c.*6408C>T rs557992238 0.00001
NM_005359.6(SMAD4):c.*720G>A rs976054814 0.00001
NM_005359.6(SMAD4):c.-127G>A rs1348701370 0.00001
NM_005359.6(SMAD4):c.-128+12A>G rs886053891 0.00001
NM_005359.6(SMAD4):c.-504A>G rs900453280 0.00001
NM_005359.6(SMAD4):c.-531G>C rs988578345 0.00001
NM_005359.6(SMAD4):c.1124C>T (p.Ala375Val) rs1555686499 0.00001
NM_005359.6(SMAD4):c.1492T>C (p.Leu498=) rs1057520520 0.00001
NM_005359.6(SMAD4):c.249+10A>C rs752243771 0.00001
NM_005359.6(SMAD4):c.298A>C (p.Arg100=) rs751154230 0.00001
NM_005359.6(SMAD4):c.667+3G>A rs757971589 0.00001
NM_005359.6(SMAD4):c.677C>T (p.Ala226Val) rs539739051 0.00001
NM_005359.6(SMAD4):c.736C>A (p.Pro246Thr) rs876659967 0.00001
NM_005359.6(SMAD4):c.789C>T (p.Asn263=) rs763510526 0.00001
NM_005359.6(SMAD4):c.876G>A (p.Pro292=) rs753358186 0.00001
NM_004329.3(BMPR1A):c.*1056A>C rs1013976124
NM_004329.3(BMPR1A):c.*542G>T rs575024211
NM_004329.3(BMPR1A):c.*545G>A rs12773754
NM_004329.3(BMPR1A):c.*641A>C rs1234049470
NM_004329.3(BMPR1A):c.*746A>G rs61856965
NM_004329.3(BMPR1A):c.*893T>C rs200051592
NM_004329.3(BMPR1A):c.*946A>G rs61856966
NM_004329.3(BMPR1A):c.-140A>G rs886047359
NM_004329.3(BMPR1A):c.-287A>G rs730881438
NM_004329.3(BMPR1A):c.-314C>T rs1589700298
NM_004329.3(BMPR1A):c.-447T>C rs886047358
NM_004329.3(BMPR1A):c.1098A>C (p.Lys366Asn) rs1060503397
NM_004329.3(BMPR1A):c.1474-7T>C rs1060504901
NM_004329.3(BMPR1A):c.191C>T (p.Ser64Leu) rs760515128
NM_004329.3(BMPR1A):c.374del (p.Cys125fs) rs1564717692
NM_005359.6(SMAD4):c.*1036C>G rs1910555271
NM_005359.6(SMAD4):c.*1141A>G rs1910558915
NM_005359.6(SMAD4):c.*1177G>A rs886053899
NM_005359.6(SMAD4):c.*1502T>C rs1224074483
NM_005359.6(SMAD4):c.*1513A>T rs75142398
NM_005359.6(SMAD4):c.*1801A>G rs886053904
NM_005359.6(SMAD4):c.*1864C>A rs561442548
NM_005359.6(SMAD4):c.*1866A>G rs4940037
NM_005359.6(SMAD4):c.*2099G>A rs1037211183
NM_005359.6(SMAD4):c.*2215C>T rs1035348290
NM_005359.6(SMAD4):c.*241T>C rs886053896
NM_005359.6(SMAD4):c.*2461C>T rs886053906
NM_005359.6(SMAD4):c.*2561G>C rs1910600689
NM_005359.6(SMAD4):c.*2674A>G rs886053907
NM_005359.6(SMAD4):c.*2941A>G rs1419101937
NM_005359.6(SMAD4):c.*3109T>A rs886053910
NM_005359.6(SMAD4):c.*3109T>C rs886053910
NM_005359.6(SMAD4):c.*3226G>C rs528878031
NM_005359.6(SMAD4):c.*3286A>T rs886053912
NM_005359.6(SMAD4):c.*3638T>G rs886053914
NM_005359.6(SMAD4):c.*3679A>G rs1910625936
NM_005359.6(SMAD4):c.*3746A>C rs1910627143
NM_005359.6(SMAD4):c.*3950A>G rs1910632230
NM_005359.6(SMAD4):c.*4085C>A rs886053917
NM_005359.6(SMAD4):c.*4987T>C rs188228460
NM_005359.6(SMAD4):c.*5530T>C rs886053921
NM_005359.6(SMAD4):c.*5609T>G rs1910688039
NM_005359.6(SMAD4):c.*5631A>G rs1046084651
NM_005359.6(SMAD4):c.*5710T>A rs1910691490
NM_005359.6(SMAD4):c.*5791C>T rs886053932
NM_005359.6(SMAD4):c.*5874C>T rs886053933
NM_005359.6(SMAD4):c.*5994A>C rs3819122
NM_005359.6(SMAD4):c.*6057G>T rs886053935
NM_005359.6(SMAD4):c.*704G>C rs964306349
NM_005359.6(SMAD4):c.*745C>T rs1910546788
NM_005359.6(SMAD4):c.*936A>G rs1910552244
NM_005359.6(SMAD4):c.-233G>C rs886053890
NM_005359.6(SMAD4):c.-313C>A rs886053889
NM_005359.6(SMAD4):c.-3C>A rs886053892
NM_005359.6(SMAD4):c.-400C>A rs1410779875
NM_005359.6(SMAD4):c.-476C>A rs886053887
NM_005359.6(SMAD4):c.-69G>A rs772186355
NM_005359.6(SMAD4):c.1447+15C>A rs1910484768
NM_005359.6(SMAD4):c.1545A>G (p.Arg515=) rs760840557
NM_005359.6(SMAD4):c.1550G>A (p.Ser517Asn) rs1910523061
NM_005359.6(SMAD4):c.1632G>A (p.Pro544=) rs549489716
NM_005359.6(SMAD4):c.87T>G (p.Gly29=) rs886053893

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