ClinVar Miner

List of variants reported as benign for Bardet-Biedl syndrome by Invitae

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 237
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_031885.5(BBS2):c.209G>A (p.Ser70Asn) rs4784677 0.99534
NM_033028.5(BBS4):c.906T>C (p.Phe302=) rs12914333 0.95849
NM_033028.5(BBS4):c.77-6G>A rs8033604 0.94438
NM_033028.5(BBS4):c.76+19G>T rs4777527 0.94399
NM_176824.3(BBS7):c.1891-12C>A rs2706793 0.79185
NM_015910.7(WDPCP):c.1915+13G>A rs992214 0.63738
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr) rs2277598 0.52665
NM_152618.3(BBS12):c.1157G>A (p.Arg386Gln) rs309370 0.42071
NM_006642.5(SDCCAG8):c.1725G>A (p.Glu575=) rs10927011 0.41204
NM_176824.3(BBS7):c.1890+16G>A rs1507994 0.40768
NM_198428.3(BBS9):c.1275+13G>T rs11981364 0.26909
NM_006642.5(SDCCAG8):c.1134A>T (p.Glu378Asp) rs2275155 0.25552
NM_024649.5(BBS1):c.724-8G>C rs10896125 0.24158
NM_024649.5(BBS1):c.378G>A (p.Leu126=) rs2298806 0.21158
NM_031885.5(BBS2):c.367A>G (p.Ile123Val) rs11373 0.20545
NM_152618.3(BBS12):c.1410C>T (p.Cys470=) rs13135445 0.19015
NM_170784.3(MKKS):c.117C>T (p.Pro39=) rs16991547 0.18435
NM_024649.5(BBS1):c.1413C>T (p.Leu471=) rs3816492 0.17957
NM_198428.3(BBS9):c.1363G>A (p.Ala455Thr) rs11773504 0.17589
NM_152618.3(BBS12):c.1380G>C (p.Val460=) rs13135766 0.16051
NM_152618.3(BBS12):c.1399G>A (p.Asp467Asn) rs13135778 0.15902
NM_152618.3(BBS12):c.1872A>G (p.Gln624=) rs13102440 0.15807
NM_015910.7(WDPCP):c.1916-6C>T rs2421862 0.14640
NM_170784.3(MKKS):c.1549C>T (p.Arg517Cys) rs1547 0.14159
NM_170784.3(MKKS):c.1595G>T (p.Gly532Val) rs1545 0.14147
NM_170784.3(MKKS):c.534C>T (p.Ile178=) rs17852625 0.14082
NM_170784.3(MKKS):c.985+16T>G rs6133917 0.14080
NM_152618.3(BBS12):c.1398C>T (p.Gly466=) rs2292493 0.13826
NM_012210.4(TRIM32):c.1254G>A (p.Val418=) rs1661300 0.10569
NM_152618.3(BBS12):c.1200G>A (p.Val400=) rs309371 0.09713
NM_152618.3(BBS12):c.51A>G (p.Gln17=) rs17006077 0.06714
NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu) rs35676114 0.05430
NM_015910.7(WDPCP):c.802G>A (p.Gly268Ser) rs17617459 0.04486
NM_152384.3(BBS5):c.39C>G (p.Val13=) rs10188609 0.04379
NM_033028.5(BBS4):c.906= (p.Phe302=) rs12914333 0.04151
NM_001278293.3(ARL6):c.186-18T>C rs77906443 0.04049
NM_144596.4(TTC8):c.1432-12T>C rs79747892 0.03653
NM_198428.3(BBS9):c.1017-6T>C rs61756571 0.03520
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr) rs7665271 0.03441
NM_031885.5(BBS2):c.1659+3A>G rs6499838 0.03415
NM_152618.3(BBS12):c.1209G>A (p.Val403=) rs17006092 0.03229
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756 0.03206
NM_152618.3(BBS12):c.1062G>C (p.Val354=) rs34296401 0.03153
NM_152384.3(BBS5):c.108C>T (p.Ser36=) rs16823066 0.02951
NM_198428.3(BBS9):c.1029A>G (p.Gly343=) rs35195153 0.02890
NM_198428.3(BBS9):c.1284C>T (p.Thr428=) rs6964382 0.02858
NM_152618.3(BBS12):c.1847G>A (p.Ser616Asn) rs28507107 0.02805
NM_033028.5(BBS4):c.405+17C>T rs80334351 0.02539
NM_152618.3(BBS12):c.1381A>C (p.Asn461His) rs10027479 0.02523
NM_024649.5(BBS1):c.1349G>A (p.Arg450Gln) rs77298332 0.02147
NM_006642.5(SDCCAG8):c.912C>T (p.Thr304=) rs976529 0.02103
NM_031885.5(BBS2):c.1511C>T (p.Ala504Val) rs16957538 0.02076
NM_152618.3(BBS12):c.378G>T (p.Glu126Asp) rs309369 0.01932
NM_031885.5(BBS2):c.612+12C>A rs77019529 0.01713
NM_198428.3(BBS9):c.1546C>A (p.Pro516Thr) rs73688160 0.01649
NM_031885.5(BBS2):c.1413A>C (p.Val471=) rs35294865 0.01415
NM_001278293.3(ARL6):c.480-8C>T rs77010939 0.01364
NM_198428.3(BBS9):c.34A>G (p.Thr12Ala) rs4498440 0.01355
NM_198428.3(BBS9):c.1849A>C (p.Ile617Leu) rs34209904 0.01256
NM_170784.3(MKKS):c.1462G>A (p.Ala488Thr) rs61734546 0.01201
NM_033028.5(BBS4):c.712-17C>G rs150754122 0.01051
NM_198428.3(BBS9):c.2299-20A>C rs17727583 0.01007
NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile) rs59252892 0.00979
NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser) rs61734468 0.00905
NM_152384.3(BBS5):c.285C>T (p.Leu95=) rs6752540 0.00882
NM_152384.3(BBS5):c.501T>A (p.Val167=) rs75690869 0.00879
NM_198428.3(BBS9):c.1562G>A (p.Arg521Gln) rs34218557 0.00872
NM_198428.3(BBS9):c.555C>T (p.Ala185=) rs35440033 0.00871
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys) rs17006082 0.00860
NM_033028.5(BBS4):c.180A>G (p.Gln60=) rs114434361 0.00852
NM_144596.4(TTC8):c.625-5C>T rs137853922 0.00807
NM_198428.3(BBS9):c.2220G>A (p.Leu740=) rs115809567 0.00765
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601 0.00738
NM_198428.3(BBS9):c.1694-6T>C rs28622379 0.00710
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) rs75295839 0.00687
NM_176824.3(BBS7):c.186C>T (p.Pro62=) rs35194418 0.00662
NM_198428.3(BBS9):c.2116-20G>A rs149813362 0.00658
NM_152384.3(BBS5):c.620G>A (p.Arg207His) rs35487251 0.00625
NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser) rs34737974 0.00618
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val) rs138072724 0.00599
NM_176824.3(BBS7):c.1505A>G (p.His502Arg) rs114718913 0.00589
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823 0.00577
NM_015910.7(WDPCP):c.1333G>C (p.Ala445Pro) rs61734466 0.00572
NM_024685.4(BBS10):c.966T>C (p.Tyr322=) rs139053702 0.00560
NM_176824.3(BBS7):c.1512-7A>T rs115987385 0.00545
NM_198428.3(BBS9):c.1110C>T (p.Asn370=) rs61753524 0.00539
NM_152618.3(BBS12):c.1103G>A (p.Arg368His) rs78457123 0.00511
NM_170784.3(MKKS):c.16G>A (p.Ala6Thr) rs150920905 0.00508
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser) rs74315394 0.00508
NM_024649.5(BBS1):c.1020C>G (p.Ser340=) rs35209408 0.00470
NM_031885.5(BBS2):c.209= (p.Ser70=) rs4784677 0.00466
NM_033028.5(BBS4):c.1106+20T>C rs145968663 0.00461
NM_033028.5(BBS4):c.748G>A (p.Gly250Arg) rs34620165 0.00458
NM_152618.3(BBS12):c.355G>A (p.Gly119Ser) rs77731085 0.00439
NM_152618.3(BBS12):c.1451G>A (p.Arg484Lys) rs35690634 0.00435
NM_031885.5(BBS2):c.805-20A>G rs41280892 0.00423
NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln) rs141340867 0.00398
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe) rs116262072 0.00392
NM_031885.5(BBS2):c.1110T>C (p.Ala370=) rs148990271 0.00389
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser) rs137853921 0.00380
NM_198428.3(BBS9):c.1246G>A (p.Val416Met) rs61764067 0.00375
NM_198428.3(BBS9):c.390T>C (p.Asn130=) rs78283245 0.00370
NM_170784.3(MKKS):c.1015A>G (p.Ile339Val) rs137853909 0.00359
NM_144596.4(TTC8):c.194A>G (p.Asp65Gly) rs114557412 0.00354
NM_006642.5(SDCCAG8):c.986C>T (p.Thr329Met) rs35859404 0.00342
NM_144596.4(TTC8):c.1401G>A (p.Pro467=) rs114064158 0.00319
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val) rs116483694 0.00287
NM_024649.5(BBS1):c.831-5C>T rs56177555 0.00285
NM_144596.4(TTC8):c.284A>G (p.Lys95Arg) rs150880478 0.00272
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325 0.00267
NM_152618.3(BBS12):c.1287T>C (p.Ser429=) rs17006094 0.00258
NM_031885.5(BBS2):c.1422G>A (p.Ser474=) rs117033008 0.00250
NM_033028.5(BBS4):c.332+27dup rs558055315 0.00243
NM_198428.3(BBS9):c.2632+9C>A rs148654647 0.00242
NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg) rs142938748 0.00227
NM_024649.5(BBS1):c.1719A>G (p.Gln573=) rs150553044 0.00194
NM_006642.5(SDCCAG8):c.1761G>A (p.Leu587=) rs149837444 0.00190
NM_152384.3(BBS5):c.750C>T (p.Ile250=) rs76138485 0.00188
NM_152384.3(BBS5):c.584A>G (p.Asp195Gly) rs143191074 0.00187
NM_031885.5(BBS2):c.1081-18G>T rs142558653 0.00166
NM_006642.5(SDCCAG8):c.929+18C>T rs200895248 0.00164
NM_015910.7(WDPCP):c.499+20A>G rs186575824 0.00159
NM_152618.3(BBS12):c.105A>T (p.Ser35=) rs35159397 0.00156
NM_033028.5(BBS4):c.37C>T (p.Pro13Ser) rs151164191 0.00134
NM_024685.4(BBS10):c.1245T>C (p.His415=) rs147241753 0.00130
NM_006642.5(SDCCAG8):c.279G>A (p.Pro93=) rs145877279 0.00120
NM_031885.5(BBS2):c.865A>G (p.Ile289Val) rs150384293 0.00113
NM_033028.5(BBS4):c.1049A>G (p.Asn350Ser) rs150395094 0.00096
NM_024685.4(BBS10):c.1545T>C (p.Asp515=) rs77565309 0.00093
NM_012210.4(TRIM32):c.6T>G (p.Ala2=) rs141352486 0.00086
NM_198428.3(BBS9):c.2086G>A (p.Asp696Asn) rs117543061 0.00081
NM_198428.3(BBS9):c.2470C>T (p.Arg824Cys) rs146752751 0.00076
NM_006642.5(SDCCAG8):c.267T>C (p.Ser89=) rs148818431 0.00069
NM_152618.3(BBS12):c.1207G>A (p.Val403Met) rs78000298 0.00069
NM_033028.5(BBS4):c.1236A>T (p.Glu412Asp) rs147202164 0.00063
NM_176824.3(BBS7):c.171G>A (p.Val57=) rs144525608 0.00060
NM_144596.4(TTC8):c.330-15T>A rs187484893 0.00059
NM_198428.3(BBS9):c.1432+7T>G rs150963080 0.00058
NM_015910.7(WDPCP):c.1315G>A (p.Val439Ile) rs199676595 0.00052
NM_006642.5(SDCCAG8):c.348C>T (p.His116=) rs143226730 0.00051
NM_033028.5(BBS4):c.460-20T>C rs200203402 0.00048
NM_033028.5(BBS4):c.24+8C>T rs200055760 0.00040
NM_015910.7(WDPCP):c.83A>T (p.Asp28Val) rs144703991 0.00039
NM_006642.5(SDCCAG8):c.2067G>A (p.Leu689=) rs191821211 0.00038
NM_176824.3(BBS7):c.1230+18T>C rs750801316 0.00038
NM_006642.5(SDCCAG8):c.798T>C (p.His266=) rs74586093 0.00036
NM_031885.5(BBS2):c.2079G>A (p.Gln693=) rs150797250 0.00034
NM_198428.3(BBS9):c.1245C>T (p.Val415=) rs61764066 0.00034
NM_170784.3(MKKS):c.416G>A (p.Arg139Gln) rs145045986 0.00031
NM_024649.5(BBS1):c.1695+10G>A rs200276861 0.00029
NM_144596.4(TTC8):c.669G>A (p.Lys223=) rs141304350 0.00026
NM_152618.3(BBS12):c.1257C>T (p.Ser419=) rs34652786 0.00025
NM_015910.7(WDPCP):c.480C>T (p.Ile160=) rs768777510 0.00024
NM_031885.5(BBS2):c.1080+14C>T rs375468475 0.00024
NM_033028.5(BBS4):c.459+14G>C rs200810799 0.00024
NM_144596.4(TTC8):c.909+18T>C rs111707320 0.00024
NM_033028.5(BBS4):c.1107-14T>G rs185052338 0.00022
NM_001278293.3(ARL6):c.192A>G (p.Ser64=) rs140114162 0.00020
NM_012210.4(TRIM32):c.770C>G (p.Thr257Arg) rs3747834 0.00017
NM_033028.5(BBS4):c.1440G>A (p.Thr480=) rs148682268 0.00017
NM_033028.5(BBS4):c.1215C>G (p.Leu405=) rs3759869 0.00015
NM_198428.3(BBS9):c.678A>G (p.Lys226=) rs201231133 0.00009
NM_024685.4(BBS10):c.1265G>A (p.Arg422Gln) rs138961848 0.00008
NM_176824.3(BBS7):c.1311C>T (p.Asn437=) rs199812109 0.00008
NM_152618.3(BBS12):c.2014G>A (p.Ala672Thr) rs140895713 0.00006
NM_170784.3(MKKS):c.757T>C (p.Ser253Pro) rs201785599 0.00006
NM_012210.4(TRIM32):c.1275T>C (p.Asp425=) rs150813870 0.00005
NM_024649.5(BBS1):c.1036G>A (p.Val346Ile) rs201872547 0.00005
NM_152384.3(BBS5):c.190T>C (p.Leu64=) rs777369461 0.00005
NM_152384.3(BBS5):c.817-5T>G rs780213701 0.00005
NM_198428.3(BBS9):c.270C>T (p.Thr90=) rs747398844 0.00005
NM_012210.4(TRIM32):c.1609C>T (p.Leu537=) rs139275673 0.00004
NM_031885.5(BBS2):c.744T>C (p.His248=) rs186893286 0.00004
NM_144596.4(TTC8):c.145-7G>A rs368220069 0.00004
NM_198428.3(BBS9):c.1276-17C>T rs199758277 0.00004
NM_015910.7(WDPCP):c.76-15T>A rs200557033 0.00003
NM_198428.3(BBS9):c.1236C>T (p.Asn412=) rs139235142 0.00003
NM_198428.3(BBS9):c.1606C>T (p.Leu536=) rs576401162 0.00003
NM_012210.4(TRIM32):c.370C>T (p.Arg124Trp) rs572052810 0.00002
NM_176824.3(BBS7):c.1337G>A (p.Arg446Gln) rs372685495 0.00002
NM_176824.3(BBS7):c.639C>T (p.Asp213=) rs150407489 0.00002
NM_024649.5(BBS1):c.433-5C>T rs542052064 0.00001
NM_024685.4(BBS10):c.1975A>T (p.Ile659Leu) rs771355732 0.00001
NM_031885.5(BBS2):c.1134A>G (p.Pro378=) rs185178790 0.00001
NM_001278293.3(ARL6):c.535+13del
NM_006642.5(SDCCAG8):c.1094G>C (p.Arg365Thr) rs115098969
NM_006642.5(SDCCAG8):c.1357-13dup
NM_006642.5(SDCCAG8):c.2113-5del
NM_006642.5(SDCCAG8):c.307-8dup
NM_015910.7(WDPCP):c.1749-12del
NM_015910.7(WDPCP):c.385-3del rs559429215
NM_015910.7(WDPCP):c.76-15_76-5del rs780314107
NM_015910.7(WDPCP):c.924A>G (p.Val308=) rs201844706
NM_024649.5(BBS1):c.125-14C>T
NM_024649.5(BBS1):c.591+10_591+11dup rs770545908
NM_024649.5(BBS1):c.591+11del
NM_024649.5(BBS1):c.951+11dup
NM_024685.4(BBS10):c.1074G>A (p.Ser358=) rs551803123
NM_024685.4(BBS10):c.198-12dup rs764036894
NM_024685.4(BBS10):c.198-7del
NM_031885.5(BBS2):c.1527+17del
NM_031885.5(BBS2):c.266A>G (p.Tyr89Cys) rs560910758
NM_031885.5(BBS2):c.346-12del rs777667452
NM_031885.5(BBS2):c.472-13del
NM_031885.5(BBS2):c.534+11del
NM_031885.5(BBS2):c.534+11dup
NM_031885.5(BBS2):c.613-17dup
NM_031885.5(BBS2):c.613-5dup
NM_031885.5(BBS2):c.941-13dup
NM_033028.5(BBS4):c.1223_1225dup (p.Asn408dup) rs752690768
NM_033028.5(BBS4):c.1451-14del
NM_033028.5(BBS4):c.24+9C>T
NM_033028.5(BBS4):c.406-11del
NM_033028.5(BBS4):c.864+12del
NM_033028.5(BBS4):c.864+12dup rs1476015172
NM_144596.4(TTC8):c.1464G>C (p.Ala488=) rs142073418
NM_152384.3(BBS5):c.258+14dup
NM_152384.3(BBS5):c.523-5del
NM_152384.3(BBS5):c.619-16_619-15del rs762885469
NM_170784.3(MKKS):c.986-4dup
NM_176824.3(BBS7):c.1231-15del
NM_176824.3(BBS7):c.1231-15dup rs747444432
NM_176824.3(BBS7):c.1372-13dup
NM_176824.3(BBS7):c.166-4del
NM_176824.3(BBS7):c.166-4dup
NM_176824.3(BBS7):c.1677-17del
NM_176824.3(BBS7):c.849+17del
NM_176824.3(BBS7):c.849+17dup
NM_198428.3(BBS9):c.1790-8del
NM_198428.3(BBS9):c.1790-8dup
NM_198428.3(BBS9):c.2633-5dup rs761809109
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTNNNNNNNNNNAGACAACTGGTTAGCCAGGATGGTCTCGTTCGCGGGTACTCCAGATCCACCCGCCTCTGACTCCCAACGTGCTGGGAGTACAGGCGTGAGCCACCGCGCCCGGCCAGAAATATTTTT rs2128114877
NM_198428.3(BBS9):c.329-7del rs753552530
NM_198428.3(BBS9):c.329-7dup rs753552530
NM_198428.3(BBS9):c.442+13dup
NM_198428.3(BBS9):c.531C>A (p.Gly177=) rs113518488
NM_198428.3(BBS9):c.702+15dup rs756949696

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