ClinVar Miner

List of variants reported as likely pathogenic for Bardet-Biedl syndrome by Counsyl

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 176
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HGVS dbSNP
NM_001165927.1(MKS1):c.1085_1087del (p.Ser362del) rs754279998
NM_001165927.1(MKS1):c.1136-2A>G rs1488635637
NM_001165927.1(MKS1):c.1364del (p.Pro455fs) rs865870355
NM_001165927.1(MKS1):c.1378-2A>G rs1555596943
NM_001165927.1(MKS1):c.1404_1432del (p.Arg469fs) rs1555596845
NM_001165927.1(MKS1):c.1420_1423dup (p.Thr475fs) rs386834044
NM_001165927.1(MKS1):c.154_160del (p.Thr52fs) rs386834046
NM_001165927.1(MKS1):c.160+2T>C rs375170572
NM_001165927.1(MKS1):c.337dup (p.Arg113fs) rs775043799
NM_001165927.1(MKS1):c.478C>T (p.Arg160Ter) rs756853299
NM_001165927.1(MKS1):c.485+1G>A rs201933838
NM_001165927.1(MKS1):c.485+2T>G rs1376664664
NM_001165927.1(MKS1):c.50+232A>G rs1555601787
NM_001165927.1(MKS1):c.50+282_50+286dup rs386834051
NM_001165927.1(MKS1):c.50+313T>C rs386834052
NM_001165927.1(MKS1):c.799G>T (p.Glu267Ter) rs1555599412
NM_001165927.1(MKS1):c.814C>T (p.Arg272Ter) rs797045706
NM_001165927.1(MKS1):c.828+1G>A rs756102768
NM_001165927.1(MKS1):c.994+1G>A rs199874059
NM_001165927.1(MKS1):c.995-2A>C rs794727070
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048
NM_024649.5(BBS1):c.1072del (p.Tyr358fs) rs1057516533
NM_024649.5(BBS1):c.1126_1130CTTTG[1] (p.Cys377fs) rs786204701
NM_024649.5(BBS1):c.124+1G>C rs1057516449
NM_024649.5(BBS1):c.1240G>T (p.Glu414Ter) rs1060503690
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter) rs1014835928
NM_024649.5(BBS1):c.1340-1G>T rs1555049893
NM_024649.5(BBS1):c.1393_1394insTGCC (p.Arg465fs) rs1555049933
NM_024649.5(BBS1):c.1423del (p.Ser474_Leu475insTer) rs1057516901
NM_024649.5(BBS1):c.1585dup (p.Ser529fs) rs1555050268
NM_024649.5(BBS1):c.158dup (p.Leu54fs) rs1313590454
NM_024649.5(BBS1):c.159+2T>A rs1057516507
NM_024649.5(BBS1):c.1609-2A>T rs1555050394
NM_024649.5(BBS1):c.1643dup (p.Glu549fs) rs773632109
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter) rs121917777
NM_024649.5(BBS1):c.17dup (p.Ser7fs) rs1166022838
NM_024649.5(BBS1):c.182del (p.Pro61fs) rs1057517007
NM_024649.5(BBS1):c.1A>C (p.Met1Leu) rs1306821707
NM_024649.5(BBS1):c.1A>T (p.Met1Leu) rs1306821707
NM_024649.5(BBS1):c.223_224del (p.Leu75fs) rs1057516451
NM_024649.5(BBS1):c.345dup (p.Lys116Ter) rs1555046611
NM_024649.5(BBS1):c.432+1G>A rs587777829
NM_024649.5(BBS1):c.433-2A>G rs1555046748
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter) rs786204444
NM_024649.5(BBS1):c.47+2T>C rs1182864166
NM_024649.5(BBS1):c.479+2T>G rs1353098253
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444
NM_024649.5(BBS1):c.48-1G>T rs751753112
NM_024649.5(BBS1):c.48-2A>C rs764245266
NM_024649.5(BBS1):c.480-1G>C rs1057516933
NM_024649.5(BBS1):c.518+1G>A rs771517209
NM_024649.5(BBS1):c.519-2A>G rs1057516502
NM_024649.5(BBS1):c.724-1G>C rs748523268
NM_024649.5(BBS1):c.786del (p.Ala264fs) rs1057516330
NM_024649.5(BBS1):c.831-2A>G rs1057517332
NM_024649.5(BBS1):c.855C>A (p.Cys285Ter) rs1057516427
NM_024649.5(BBS1):c.951+1G>A rs746875134
NM_024649.5(BBS1):c.952-1G>A rs1057516661
NM_024649.5(BBS1):c.981del (p.Ala328fs) rs1057516371
NM_024685.4(BBS10):c.1000_1001insGA (p.Leu334Ter) rs1555202657
NM_024685.4(BBS10):c.1007C>G (p.Ser336Ter) rs1555202656
NM_024685.4(BBS10):c.1012_1013del (p.Glu338fs) rs1057516998
NM_024685.4(BBS10):c.1024del (p.Ile342fs) rs765561672
NM_024685.4(BBS10):c.1056del (p.Pro353fs) rs1057516623
NM_024685.4(BBS10):c.1064del (p.Gln355fs) rs1555202654
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_024685.4(BBS10):c.1122dup (p.Ile375fs) rs753604828
NM_024685.4(BBS10):c.1143_1147dup (p.His383fs) rs1555202642
NM_024685.4(BBS10):c.1184dup (p.His395fs) rs786204573
NM_024685.4(BBS10):c.1185_1186CT[1] (p.Ser396fs) rs1555202636
NM_024685.4(BBS10):c.1188_1189TA[1] (p.Ile397fs) rs1057517206
NM_024685.4(BBS10):c.1236_1248del (p.Asp412fs) rs1057517156
NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser) rs786204575
NM_024685.4(BBS10):c.130G>T (p.Glu44Ter) rs1310735399
NM_024685.4(BBS10):c.1338del (p.Phe446fs) rs1389599028
NM_024685.4(BBS10):c.1391C>G (p.Ser464Ter) rs759682922
NM_024685.4(BBS10):c.1408del (p.Gln470fs) rs1555202614
NM_024685.4(BBS10):c.1447dup (p.Thr483fs) rs759185809
NM_024685.4(BBS10):c.1448_1452del (p.Thr483fs) rs786204705
NM_024685.4(BBS10):c.1491delinsGA (p.Asp497fs) rs1555202607
NM_024685.4(BBS10):c.1506_1507AT[2] (p.Ile504fs) rs886043841
NM_024685.4(BBS10):c.1533del (p.Thr512fs) rs773864735
NM_024685.4(BBS10):c.1538dup (p.Thr514fs) rs1555202599
NM_024685.4(BBS10):c.1542del (p.Asp515fs) rs1057517031
NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs) rs770556842
NM_024685.4(BBS10):c.1659_1663TAGAA[1] (p.Ile555fs) rs1057516669
NM_024685.4(BBS10):c.1677del (p.Ser558_Tyr559insTer) rs1555202584
NM_024685.4(BBS10):c.1687C>T (p.Gln563Ter) rs1555202583
NM_024685.4(BBS10):c.1724del (p.Pro575fs) rs1057516754
NM_024685.4(BBS10):c.1829T>G (p.Leu610Ter) rs1555202572
NM_024685.4(BBS10):c.1949del (p.Gly650fs) rs769028262
NM_024685.4(BBS10):c.1952del (p.Lys651fs) rs1555202562
NM_024685.4(BBS10):c.1959del (p.Pro655fs) rs1057516628
NM_024685.4(BBS10):c.197+1G>T rs886042729
NM_024685.4(BBS10):c.198-1G>C rs1555202740
NM_024685.4(BBS10):c.2030del (p.Gly677fs) rs1064796315
NM_024685.4(BBS10):c.2077C>T (p.Gln693Ter) rs1555202546
NM_024685.4(BBS10):c.212_213GT[1] (p.Val72fs) rs1057516861
NM_024685.4(BBS10):c.212_213GT[3] (p.Ser73fs) rs1057516861
NM_024685.4(BBS10):c.251_257dup (p.Phe86fs) rs1555202737
NM_024685.4(BBS10):c.27_37del (p.Ser10fs) rs1278460471
NM_024685.4(BBS10):c.299_305del (p.Ile100fs) rs1057516701
NM_024685.4(BBS10):c.320del (p.Pro107fs) rs1555202731
NM_024685.4(BBS10):c.361A>T (p.Lys121Ter) rs1057516240
NM_024685.4(BBS10):c.365dup (p.Asn122fs) rs774095109
NM_024685.4(BBS10):c.378G>A (p.Trp126Ter) rs1057516753
NM_024685.4(BBS10):c.414del (p.Gln139fs) rs1555202717
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter) rs863224522
NM_024685.4(BBS10):c.534_535del (p.Phe178fs) rs1555202698
NM_024685.4(BBS10):c.537T>A (p.Cys179Ter) rs574032499
NM_024685.4(BBS10):c.564_567ATTT[1] (p.Ile190fs) rs1057516266
NM_024685.4(BBS10):c.574C>T (p.Gln192Ter) rs1057517184
NM_024685.4(BBS10):c.728_731del (p.Lys243fs) rs786204671
NM_024685.4(BBS10):c.745_746insTA (p.Arg249fs) rs1555202687
NM_024685.4(BBS10):c.766C>T (p.Arg256Ter) rs1156913215
NM_024685.4(BBS10):c.784_785del (p.Glu262fs) rs1555202681
NM_024685.4(BBS10):c.83_84delinsAG (p.Cys28Ter) rs1555202801
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter) rs758732081
NM_024685.4(BBS10):c.856_857TC[3] (p.Gln287fs) rs1057516836
NM_024685.4(BBS10):c.909_912del (p.Ser303fs) rs780059308
NM_024685.4(BBS10):c.955_958GTTA[1] (p.Ser320fs) rs758522600
NM_031885.4(BBS2):c.1015C>T (p.Arg339Ter) rs193922710
NM_031885.4(BBS2):c.1081-1G>T rs1555522000
NM_031885.4(BBS2):c.1237C>T (p.Arg413Ter) rs147030232
NM_031885.4(BBS2):c.1780C>T (p.Arg594Ter) rs762047808
NM_031885.4(BBS2):c.1797+1G>A rs1555521489
NM_031885.4(BBS2):c.1814C>G (p.Ser605Ter) rs201063733
NM_031885.4(BBS2):c.1864C>T (p.Arg622Ter) rs201196733
NM_031885.4(BBS2):c.1895G>C (p.Arg632Pro) rs138043021
NM_031885.4(BBS2):c.1909_1910del (p.Met637fs) rs1555521379
NM_031885.4(BBS2):c.1911-1G>A rs1555520256
NM_031885.4(BBS2):c.1946_1952del (p.Asp649fs) rs745951028
NM_031885.4(BBS2):c.1969G>T (p.Gly657Ter) rs1166717771
NM_031885.4(BBS2):c.2038C>T (p.Gln680Ter) rs1555520220
NM_031885.4(BBS2):c.2060-1G>T rs1555520142
NM_031885.4(BBS2):c.2107C>T (p.Arg703Ter) rs567573386
NM_031885.4(BBS2):c.224T>G (p.Val75Gly) rs121908174
NM_031885.4(BBS2):c.311A>C (p.Asp104Ala) rs121908179
NM_031885.4(BBS2):c.324_343del (p.Asn108fs) rs1555523964
NM_031885.4(BBS2):c.471+1G>A rs1555523584
NM_031885.4(BBS2):c.534+1G>T rs773862084
NM_031885.4(BBS2):c.55del (p.Val19fs) rs1555524593
NM_031885.4(BBS2):c.563del (p.Ile188fs) rs1367927635
NM_031885.4(BBS2):c.627_628del (p.Cys210fs) rs773417074
NM_031885.4(BBS2):c.661del (p.Leu221fs) rs770258677
NM_031885.4(BBS2):c.717+1G>A rs1047075022
NM_031885.4(BBS2):c.717+2T>G rs1555522893
NM_031885.4(BBS2):c.918_919dup (p.Cys307fs) rs1555522252
NM_031885.4(BBS2):c.940+1del rs746171104
NM_031885.4(BBS2):c.941-1G>T rs777234811
NM_031885.4(BBS2):c.941-2A>C rs878962682
NM_152618.3(BBS12):c.1009_1010del (p.Val337fs) rs1553941369
NM_152618.3(BBS12):c.1082del (p.Gly361fs) rs1057517193
NM_152618.3(BBS12):c.1140_1141del (p.Val381fs) rs1553941391
NM_152618.3(BBS12):c.1151del (p.Ser384fs) rs1553941404
NM_152618.3(BBS12):c.1287_1290del (p.Lys430fs) rs766741204
NM_152618.3(BBS12):c.1320_1326dup (p.Gln443fs) rs1553941433
NM_152618.3(BBS12):c.1372dup (p.Thr458fs) rs1195341481
NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter) rs1269565757
NM_152618.3(BBS12):c.1749C>G (p.Tyr583Ter) rs1284876635
NM_152618.3(BBS12):c.1795del (p.Leu599fs) rs1553941540
NM_152618.3(BBS12):c.1949C>G (p.Ser650Ter) rs1553941580
NM_152618.3(BBS12):c.1949del (p.Asn649_Ser650insTer) rs1444062882
NM_152618.3(BBS12):c.1A>C (p.Met1Leu) rs750366365
NM_152618.3(BBS12):c.265_266del (p.Leu89fs) rs1397714772
NM_152618.3(BBS12):c.270del (p.Val92fs) rs1173504533
NM_152618.3(BBS12):c.2T>C (p.Met1Thr) rs1553941150
NM_152618.3(BBS12):c.416_419del (p.Asp139fs) rs1553941255
NM_152618.3(BBS12):c.424dup (p.Asp142fs) rs1553941258
NM_152618.3(BBS12):c.49dup (p.Gln17fs) rs756061536
NM_152618.3(BBS12):c.568dup (p.Ser190fs) rs1553941279
NM_152618.3(BBS12):c.640C>T (p.Arg214Ter) rs745448288
NM_152618.3(BBS12):c.682C>T (p.Gln228Ter) rs769588983
NM_152618.3(BBS12):c.682_683insT (p.Gln228fs) rs770872200
NM_152618.3(BBS12):c.760G>T (p.Glu254Ter) rs1553941304

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