ClinVar Miner

List of variants in gene BUB1B reported as likely benign for Mosaic variegated aneuploidy syndrome 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 244
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HGVS dbSNP gnomAD frequency
NM_001211.6(BUB1B):c.772C>T (p.Leu258Phe) rs146387899 0.00085
NM_001211.6(BUB1B):c.1628+9T>C rs112600564 0.00075
NM_001211.6(BUB1B):c.1539C>T (p.Asn513=) rs140534961 0.00071
NM_001211.6(BUB1B):c.1001C>T (p.Pro334Leu) rs141953425 0.00063
NM_001211.6(BUB1B):c.1058+11T>G rs369003469 0.00059
NM_001211.6(BUB1B):c.1649G>A (p.Arg550Gln) rs28989187 0.00049
NM_001211.6(BUB1B):c.2385+13C>G rs191736357 0.00042
NM_001211.6(BUB1B):c.805A>G (p.Asn269Asp) rs148159407 0.00041
NM_001211.6(BUB1B):c.36-14_36-13insG rs373264516 0.00036
NM_001211.6(BUB1B):c.1371A>G (p.Gln457=) rs141013408 0.00033
NM_001211.6(BUB1B):c.1746A>C (p.Thr582=) rs373105304 0.00029
NM_001211.6(BUB1B):c.752-13T>C rs201927813 0.00029
NM_001211.6(BUB1B):c.1734+18T>C rs185839024 0.00023
NM_001211.6(BUB1B):c.1413G>T (p.Thr471=) rs374560564 0.00022
NM_001211.6(BUB1B):c.2009+17_2009+18insC rs577967976 0.00021
NM_001211.6(BUB1B):c.1628+17T>G rs375854305 0.00014
NM_001211.6(BUB1B):c.1261C>T (p.Arg421Trp) rs201251790 0.00011
NM_001211.6(BUB1B):c.966+14G>C rs377647421 0.00009
NM_001211.6(BUB1B):c.2673A>G (p.Arg891=) rs140574971 0.00008
NM_001211.6(BUB1B):c.1437A>G (p.Lys479=) rs56292726 0.00007
NM_001211.6(BUB1B):c.1735-19T>C rs750579205 0.00007
NM_001211.6(BUB1B):c.219C>T (p.Asp73=) rs548540749 0.00007
NM_001211.6(BUB1B):c.678A>G (p.Thr226=) rs142284213 0.00007
NM_001211.6(BUB1B):c.1032G>A (p.Val344=) rs756307061 0.00006
NM_001211.6(BUB1B):c.1443A>G (p.Gln481=) rs754657047 0.00006
NM_001211.6(BUB1B):c.2010-11G>T rs370832226 0.00006
NM_001211.6(BUB1B):c.2284+18C>T rs113609246 0.00006
NM_001211.6(BUB1B):c.2535+19A>G rs748758973 0.00005
NM_001211.6(BUB1B):c.255A>G (p.Thr85=) rs140273483 0.00005
NM_001211.6(BUB1B):c.783A>G (p.Pro261=) rs376912927 0.00005
NM_001211.6(BUB1B):c.1290C>T (p.Ala430=) rs376379876 0.00004
NM_001211.6(BUB1B):c.1533G>A (p.Ala511=) rs779879463 0.00004
NM_001211.6(BUB1B):c.1568-16G>A rs372690199 0.00004
NM_001211.6(BUB1B):c.2535+16A>G rs777426066 0.00004
NM_001211.6(BUB1B):c.1058+9G>A rs375125450 0.00003
NM_001211.6(BUB1B):c.1289-8G>A rs375564551 0.00003
NM_001211.6(BUB1B):c.1308A>G (p.Ala436=) rs756405366 0.00003
NM_001211.6(BUB1B):c.1368C>T (p.Ile456=) rs201813238 0.00003
NM_001211.6(BUB1B):c.2536-9A>G rs368585401 0.00003
NM_001211.6(BUB1B):c.2628A>G (p.Ala876=) rs768648860 0.00003
NM_001211.6(BUB1B):c.387G>T (p.Gly129=) rs149153123 0.00003
NM_001211.6(BUB1B):c.846T>G (p.Ala282=) rs773703818 0.00003
NM_001211.6(BUB1B):c.1401+18A>G rs2037541338 0.00002
NM_001211.6(BUB1B):c.2143+16C>A rs768994715 0.00002
NM_001211.6(BUB1B):c.2143+20A>G rs993334844 0.00002
NM_001211.6(BUB1B):c.2385+7C>T rs779458273 0.00002
NM_001211.6(BUB1B):c.2481A>G (p.Gln827=) rs76294284 0.00002
NM_001211.6(BUB1B):c.576G>A (p.Gln192=) rs761648006 0.00002
NM_001211.6(BUB1B):c.751+9G>A rs372133651 0.00002
NM_001211.6(BUB1B):c.810T>C (p.Ser270=) rs1205669680 0.00002
NM_001211.6(BUB1B):c.1008G>A (p.Val336=) rs765922572 0.00001
NM_001211.6(BUB1B):c.1038G>A (p.Glu346=) rs1566820458 0.00001
NM_001211.6(BUB1B):c.1058+7G>T rs904070234 0.00001
NM_001211.6(BUB1B):c.1059-10G>A rs200485522 0.00001
NM_001211.6(BUB1B):c.1113T>C (p.Pro371=) rs780663453 0.00001
NM_001211.6(BUB1B):c.1288+13C>T rs778499288 0.00001
NM_001211.6(BUB1B):c.1289-9T>C rs763327688 0.00001
NM_001211.6(BUB1B):c.132A>G (p.Ala44=) rs371958222 0.00001
NM_001211.6(BUB1B):c.1419T>C (p.Pro473=) rs1004969635 0.00001
NM_001211.6(BUB1B):c.1517+7C>G rs752429596 0.00001
NM_001211.6(BUB1B):c.156C>T (p.Asn52=) rs1214786359 0.00001
NM_001211.6(BUB1B):c.1587C>T (p.Ser529=) rs374320185 0.00001
NM_001211.6(BUB1B):c.1628+8del rs1159029463 0.00001
NM_001211.6(BUB1B):c.1671C>G (p.Pro557=) rs1236664633 0.00001
NM_001211.6(BUB1B):c.1725A>C (p.Pro575=) rs1042674657 0.00001
NM_001211.6(BUB1B):c.180-7A>G rs750125592 0.00001
NM_001211.6(BUB1B):c.1977C>A (p.Ile659=) rs992499879 0.00001
NM_001211.6(BUB1B):c.2010-19T>A rs769699093 0.00001
NM_001211.6(BUB1B):c.2144-14C>T rs753821747 0.00001
NM_001211.6(BUB1B):c.2163A>G (p.Pro721=) rs746054575 0.00001
NM_001211.6(BUB1B):c.2285-12C>T rs761247619 0.00001
NM_001211.6(BUB1B):c.2386-4A>G rs752871512 0.00001
NM_001211.6(BUB1B):c.2386-6T>C rs767742757 0.00001
NM_001211.6(BUB1B):c.2386-9G>A rs1189315798 0.00001
NM_001211.6(BUB1B):c.240-11C>T rs779021486 0.00001
NM_001211.6(BUB1B):c.240-9C>A rs372081557 0.00001
NM_001211.6(BUB1B):c.2406A>G (p.Pro802=) rs757885158 0.00001
NM_001211.6(BUB1B):c.2454T>C (p.Asp818=) rs749203600 0.00001
NM_001211.6(BUB1B):c.2535+15A>G rs1446976292 0.00001
NM_001211.6(BUB1B):c.2634A>C (p.Ile878=) rs1233769017 0.00001
NM_001211.6(BUB1B):c.2667T>C (p.Ile889=) rs901161308 0.00001
NM_001211.6(BUB1B):c.330A>G (p.Gln110=) rs758347429 0.00001
NM_001211.6(BUB1B):c.36-8C>T rs780399190 0.00001
NM_001211.6(BUB1B):c.567A>G (p.Leu189=) rs779639976 0.00001
NM_001211.6(BUB1B):c.582-14T>A rs756555949 0.00001
NM_001211.6(BUB1B):c.585A>G (p.Gln195=) rs1595518738 0.00001
NM_001211.6(BUB1B):c.60T>C (p.Asp20=) rs770968419 0.00001
NM_001211.6(BUB1B):c.636A>G (p.Glu212=) rs769213287 0.00001
NM_001211.6(BUB1B):c.669A>G (p.Gln223=) rs534752806 0.00001
NM_001211.6(BUB1B):c.732T>A (p.Arg244=) rs780852497 0.00001
NM_001211.6(BUB1B):c.751+12A>C rs771058347 0.00001
NM_001211.6(BUB1B):c.967-4C>G rs1199649373 0.00001
NM_001211.6(BUB1B):c.1002C>T (p.Pro334=)
NM_001211.6(BUB1B):c.1014C>T (p.Pro338=)
NM_001211.6(BUB1B):c.1058+16G>C
NM_001211.6(BUB1B):c.1058+17G>A
NM_001211.6(BUB1B):c.1058+7G>A
NM_001211.6(BUB1B):c.1058+8_1058+9del rs1217693564
NM_001211.6(BUB1B):c.1059-7del rs770579508
NM_001211.6(BUB1B):c.105G>C (p.Gly35=)
NM_001211.6(BUB1B):c.106C>A (p.Arg36=)
NM_001211.6(BUB1B):c.1071A>G (p.Lys357=) rs1595526276
NM_001211.6(BUB1B):c.1137A>G (p.Leu379=) rs770658836
NM_001211.6(BUB1B):c.1164G>T (p.Ala388=) rs1047130
NM_001211.6(BUB1B):c.1176G>A (p.Lys392=)
NM_001211.6(BUB1B):c.1179A>G (p.Lys393=)
NM_001211.6(BUB1B):c.1209T>A (p.Ile403=) rs765503426
NM_001211.6(BUB1B):c.120G>A (p.Thr40=) rs960840123
NM_001211.6(BUB1B):c.1246C>A (p.Arg416=)
NM_001211.6(BUB1B):c.1288+12T>C rs994138926
NM_001211.6(BUB1B):c.1288+18T>G
NM_001211.6(BUB1B):c.1289-11A>C
NM_001211.6(BUB1B):c.1296A>G (p.Leu432=) rs908144833
NM_001211.6(BUB1B):c.1338T>C (p.Ile446=)
NM_001211.6(BUB1B):c.1401+20A>G
NM_001211.6(BUB1B):c.1413G>A (p.Thr471=) rs374560564
NM_001211.6(BUB1B):c.1449T>C (p.Ala483=) rs755711414
NM_001211.6(BUB1B):c.1482A>G (p.Leu494=)
NM_001211.6(BUB1B):c.1515C>T (p.Ala505=)
NM_001211.6(BUB1B):c.1517+10C>T rs373689524
NM_001211.6(BUB1B):c.1517+15G>C
NM_001211.6(BUB1B):c.1517+20del
NM_001211.6(BUB1B):c.1517+9A>G
NM_001211.6(BUB1B):c.1518-5T>C
NM_001211.6(BUB1B):c.1568-12C>G
NM_001211.6(BUB1B):c.1568-16G>T rs372690199
NM_001211.6(BUB1B):c.1568-5T>A rs2140901848
NM_001211.6(BUB1B):c.1575T>C (p.Ser525=)
NM_001211.6(BUB1B):c.1590T>A (p.Ile530=) rs777968728
NM_001211.6(BUB1B):c.159T>C (p.Asn53=)
NM_001211.6(BUB1B):c.1611A>G (p.Ser537=) rs1595529407
NM_001211.6(BUB1B):c.1620G>A (p.Lys540=) rs2140901896
NM_001211.6(BUB1B):c.1628+11T>C
NM_001211.6(BUB1B):c.1628+15T>G
NM_001211.6(BUB1B):c.1628+16G>T
NM_001211.6(BUB1B):c.1628+17_1628+24del rs755262880
NM_001211.6(BUB1B):c.1628+18T>G
NM_001211.6(BUB1B):c.1628+20T>C
NM_001211.6(BUB1B):c.1628+24_1628+31del
NM_001211.6(BUB1B):c.1628+24_1628+32del rs555567065
NM_001211.6(BUB1B):c.1628+8G>A
NM_001211.6(BUB1B):c.1629-17G>A
NM_001211.6(BUB1B):c.1677A>G (p.Ala559=)
NM_001211.6(BUB1B):c.171G>A (p.Gln57=) rs777530306
NM_001211.6(BUB1B):c.1734+16C>T
NM_001211.6(BUB1B):c.1734+9C>T
NM_001211.6(BUB1B):c.1735-20T>A
NM_001211.6(BUB1B):c.1764C>T (p.Ser588=) rs759148358
NM_001211.6(BUB1B):c.179+15T>C rs1425948264
NM_001211.6(BUB1B):c.179+8G>A
NM_001211.6(BUB1B):c.180-15C>T
NM_001211.6(BUB1B):c.1815A>T (p.Pro605=) rs778374888
NM_001211.6(BUB1B):c.1842A>G (p.Ala614=) rs2037635438
NM_001211.6(BUB1B):c.1938A>G (p.Val646=) rs1189177411
NM_001211.6(BUB1B):c.1962A>G (p.Thr654=)
NM_001211.6(BUB1B):c.1971C>T (p.Gly657=)
NM_001211.6(BUB1B):c.1980C>T (p.Tyr660=) rs564719711
NM_001211.6(BUB1B):c.2007G>A (p.Leu669=) rs2140904163
NM_001211.6(BUB1B):c.2009+10G>A
NM_001211.6(BUB1B):c.2010-16T>C
NM_001211.6(BUB1B):c.2025C>T (p.Asp675=) rs143559902
NM_001211.6(BUB1B):c.2037C>T (p.Ala679=) rs1595532884
NM_001211.6(BUB1B):c.2046C>T (p.Ser682=) rs2140905546
NM_001211.6(BUB1B):c.2073G>A (p.Ser691=) rs765906277
NM_001211.6(BUB1B):c.2073G>T (p.Ser691=)
NM_001211.6(BUB1B):c.2119C>T (p.Leu707=) rs1595532945
NM_001211.6(BUB1B):c.2139T>C (p.Thr713=)
NM_001211.6(BUB1B):c.2144-13C>T
NM_001211.6(BUB1B):c.2144-14C>G
NM_001211.6(BUB1B):c.2144-4G>A rs778833334
NM_001211.6(BUB1B):c.2144-6T>C rs1595533439
NM_001211.6(BUB1B):c.2160A>T (p.Ser720=) rs1042530525
NM_001211.6(BUB1B):c.2208G>A (p.Glu736=) rs2037685574
NM_001211.6(BUB1B):c.2238A>G (p.Glu746=)
NM_001211.6(BUB1B):c.2256G>A (p.Lys752=) rs1555383502
NM_001211.6(BUB1B):c.2257T>C (p.Leu753=)
NM_001211.6(BUB1B):c.2284+13G>A
NM_001211.6(BUB1B):c.2284+17T>A
NM_001211.6(BUB1B):c.2284+8C>A
NM_001211.6(BUB1B):c.2292G>A (p.Glu764=) rs2140906462
NM_001211.6(BUB1B):c.2337G>A (p.Lys779=) rs1301115559
NM_001211.6(BUB1B):c.2352G>A (p.Ala784=)
NM_001211.6(BUB1B):c.2352G>T (p.Ala784=)
NM_001211.6(BUB1B):c.2386-10T>C
NM_001211.6(BUB1B):c.2386-5T>C
NM_001211.6(BUB1B):c.2391T>C (p.Ser797=) rs764329961
NM_001211.6(BUB1B):c.2391T>G (p.Ser797=) rs764329961
NM_001211.6(BUB1B):c.240-18C>A
NM_001211.6(BUB1B):c.240-8C>T rs2140881724
NM_001211.6(BUB1B):c.2412C>T (p.Asp804=) rs1555383645
NM_001211.6(BUB1B):c.2448T>C (p.Asn816=) rs1595534924
NM_001211.6(BUB1B):c.2496T>C (p.Cys832=)
NM_001211.6(BUB1B):c.2511A>G (p.Gln837=)
NM_001211.6(BUB1B):c.2520C>T (p.Asn840=) rs1385699061
NM_001211.6(BUB1B):c.2535+10A>C rs1197837468
NM_001211.6(BUB1B):c.2535+8A>G rs2140907808
NM_001211.6(BUB1B):c.2565C>T (p.Thr855=)
NM_001211.6(BUB1B):c.2580G>A (p.Val860=)
NM_001211.6(BUB1B):c.2617C>T (p.Leu873=)
NM_001211.6(BUB1B):c.2678+13C>G
NM_001211.6(BUB1B):c.270T>G (p.Pro90=)
NM_001211.6(BUB1B):c.300G>A (p.Thr100=)
NM_001211.6(BUB1B):c.303A>G (p.Leu101=) rs2140881797
NM_001211.6(BUB1B):c.318A>G (p.Val106=)
NM_001211.6(BUB1B):c.327A>G (p.Leu109=)
NM_001211.6(BUB1B):c.366C>T (p.Leu122=)
NM_001211.6(BUB1B):c.384+13C>T
NM_001211.6(BUB1B):c.384+9_384+12del rs777147964
NM_001211.6(BUB1B):c.385-19G>A
NM_001211.6(BUB1B):c.385-7G>C rs2140885381
NM_001211.6(BUB1B):c.480A>G (p.Glu160=)
NM_001211.6(BUB1B):c.495A>G (p.Arg165=) rs1446251301
NM_001211.6(BUB1B):c.504T>C (p.Phe168=)
NM_001211.6(BUB1B):c.519G>A (p.Ala173=) rs1595514496
NM_001211.6(BUB1B):c.540A>G (p.Gln180=) rs1595514520
NM_001211.6(BUB1B):c.581+10_581+13del rs762654787
NM_001211.6(BUB1B):c.581+18C>T
NM_001211.6(BUB1B):c.581+7T>G rs1595514579
NM_001211.6(BUB1B):c.591A>G (p.Gln197=) rs2140889748
NM_001211.6(BUB1B):c.615G>T (p.Leu205=)
NM_001211.6(BUB1B):c.627G>A (p.Glu209=) rs1354561256
NM_001211.6(BUB1B):c.630A>G (p.Lys210=)
NM_001211.6(BUB1B):c.663A>G (p.Val221=) rs774346563
NM_001211.6(BUB1B):c.679C>T (p.Leu227=) rs1211327766
NM_001211.6(BUB1B):c.684T>C (p.Ala228=)
NM_001211.6(BUB1B):c.714A>C (p.Ala238=)
NM_001211.6(BUB1B):c.751+9G>C rs372133651
NM_001211.6(BUB1B):c.752-5C>T rs2140890656
NM_001211.6(BUB1B):c.752-6T>C rs2140890655
NM_001211.6(BUB1B):c.774C>T (p.Leu258=)
NM_001211.6(BUB1B):c.783A>C (p.Pro261=)
NM_001211.6(BUB1B):c.795G>A (p.Gln265=)
NM_001211.6(BUB1B):c.837T>C (p.Ala279=)
NM_001211.6(BUB1B):c.882A>C (p.Pro294=) rs1595519781
NM_001211.6(BUB1B):c.882A>G (p.Pro294=)
NM_001211.6(BUB1B):c.897C>A (p.Pro299=)
NM_001211.6(BUB1B):c.897C>G (p.Pro299=) rs374307209
NM_001211.6(BUB1B):c.903C>T (p.Pro301=) rs2140890815
NM_001211.6(BUB1B):c.966+20G>T
NM_001211.6(BUB1B):c.966+7A>C rs1595519855
NM_001211.6(BUB1B):c.967-17TTC[2] rs748654731
NM_001211.6(BUB1B):c.967-8A>C rs2037349939
NM_001211.6(BUB1B):c.967-8A>G
NM_001211.6(BUB1B):c.99G>A (p.Arg33=)

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