ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 1

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 193
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HGVS dbSNP
BBS1, 1-BP DEL, 1650C
NM_001195306.1(BBIP1):c.173T>G (p.Leu58Ter) rs515726134
NM_015910.7(WDPCP):c.1448G>A (p.Arg483Gln) rs544657165
NM_015910.7(WDPCP):c.1915+13G>A rs992214
NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser) rs61734468
NM_020347.4(LZTFL1):c.260T>C (p.Leu87Pro) rs515726135
NM_020347.4(LZTFL1):c.778G>T (p.Glu260Ter) rs515726136
NM_024649.5(BBS1):c.*104G>C rs554182779
NM_024649.5(BBS1):c.*1088G>A rs886048531
NM_024649.5(BBS1):c.*10T>A rs765633556
NM_024649.5(BBS1):c.*1215T>C rs115354748
NM_024649.5(BBS1):c.*1217C>A
NM_024649.5(BBS1):c.*1274A>G
NM_024649.5(BBS1):c.*1349T>C
NM_024649.5(BBS1):c.*187C>T
NM_024649.5(BBS1):c.*219A>G
NM_024649.5(BBS1):c.*259C>A
NM_024649.5(BBS1):c.*428G>C rs41302425
NM_024649.5(BBS1):c.*473C>T rs886048526
NM_024649.5(BBS1):c.*474G>A
NM_024649.5(BBS1):c.*514C>T rs886048527
NM_024649.5(BBS1):c.*51C>G
NM_024649.5(BBS1):c.*522C>T rs886048528
NM_024649.5(BBS1):c.*776G>A
NM_024649.5(BBS1):c.*7A>G rs8432
NM_024649.5(BBS1):c.*840A>G rs3741360
NM_024649.5(BBS1):c.*855G>A rs886048530
NM_024649.5(BBS1):c.*886C>T
NM_024649.5(BBS1):c.*950C>T
NM_024649.5(BBS1):c.*955G>A rs1791686
NM_024649.5(BBS1):c.1012C>T (p.Gln338Ter) rs869025205
NM_024649.5(BBS1):c.1036G>A (p.Val346Ile) rs201872547
NM_024649.5(BBS1):c.1061A>G (p.Glu354Gly) rs1555048530
NM_024649.5(BBS1):c.1071T>C (p.Ile357=)
NM_024649.5(BBS1):c.1072del (p.Tyr358fs) rs1057516533
NM_024649.5(BBS1):c.1088T>C (p.Leu363Pro) rs540217506
NM_024649.5(BBS1):c.1100T>A (p.Ile367Asn) rs1565286202
NM_024649.5(BBS1):c.1110+15C>T rs371084544
NM_024649.5(BBS1):c.1110G>A (p.Pro370=) rs183771956
NM_024649.5(BBS1):c.1138C>T (p.Arg380Trp) rs752299442
NM_024649.5(BBS1):c.1139G>A (p.Arg380Gln) rs758139447
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_024649.5(BBS1):c.1180+5G>A rs886048525
NM_024649.5(BBS1):c.118del (p.Cys40fs) rs1490351829
NM_024649.5(BBS1):c.1194C>A (p.Ile398=) rs200577824
NM_024649.5(BBS1):c.124+1G>A rs1057516449
NM_024649.5(BBS1):c.124+1G>C rs1057516449
NM_024649.5(BBS1):c.1240G>T (p.Glu414Ter) rs1060503690
NM_024649.5(BBS1):c.1243del (p.Val415fs) rs1590772920
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.1310A>T (p.Gln437Leu)
NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter) rs1014835928
NM_024649.5(BBS1):c.1334G>C (p.Gly445Ala) rs765829383
NM_024649.5(BBS1):c.1338C>T (p.Thr446=) rs368302072
NM_024649.5(BBS1):c.1340-1G>T rs1555049893
NM_024649.5(BBS1):c.1349G>A (p.Arg450Gln) rs77298332
NM_024649.5(BBS1):c.1371C>T (p.Tyr457=)
NM_024649.5(BBS1):c.1383A>G (p.Leu461=) rs557739576
NM_024649.5(BBS1):c.1393_1394insTGCC (p.Arg465fs) rs1555049933
NM_024649.5(BBS1):c.1394G>A (p.Arg465His) rs146072788
NM_024649.5(BBS1):c.1405C>T (p.Gln469Ter) rs1565289799
NM_024649.5(BBS1):c.1413C>T (p.Leu471=) rs3816492
NM_024649.5(BBS1):c.1423del (p.Ser474_Leu475insTer) rs1057516901
NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs) rs775769424
NM_024649.5(BBS1):c.1535G>A (p.Arg512His) rs202205304
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro) rs121917778
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.1592C>T (p.Pro531Leu)
NM_024649.5(BBS1):c.1594C>T (p.Arg532Trp) rs770105141
NM_024649.5(BBS1):c.1595G>A (p.Arg532Gln) rs142648652
NM_024649.5(BBS1):c.1609-2A>T rs1555050394
NM_024649.5(BBS1):c.1631T>A (p.Leu544His) rs1555050401
NM_024649.5(BBS1):c.1634A>G (p.Asn545Ser) rs148948642
NM_024649.5(BBS1):c.1642del (p.Leu548fs) rs1555050404
NM_024649.5(BBS1):c.1643dup (p.Glu549fs) rs773632109
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter) rs121917777
NM_024649.5(BBS1):c.1676G>A (p.Gly559Asp)
NM_024649.5(BBS1):c.1676_1678del (p.Gly559_Ile560delinsVal) rs1555050422
NM_024649.5(BBS1):c.1695+10G>A rs200276861
NM_024649.5(BBS1):c.1695G>A (p.Lys565=) rs1555050427
NM_024649.5(BBS1):c.1702G>A (p.Val568Met) rs754300140
NM_024649.5(BBS1):c.1709G>A (p.Arg570Gln)
NM_024649.5(BBS1):c.1717C>T (p.Gln573Ter) rs1450045618
NM_024649.5(BBS1):c.1719A>G (p.Gln573=) rs150553044
NM_024649.5(BBS1):c.1744G>A (p.Val582Ile) rs111358560
NM_024649.5(BBS1):c.17dup (p.Ser7fs) rs1166022838
NM_024649.5(BBS1):c.182del (p.Pro61fs) rs1057517007
NM_024649.5(BBS1):c.190C>G (p.Gln64Glu) rs369843749
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.200G>A (p.Arg67His)
NM_024649.5(BBS1):c.223_224del (p.Leu75fs) rs1057516451
NM_024649.5(BBS1):c.235G>A (p.Glu79Lys) rs138744839
NM_024649.5(BBS1):c.243G>A (p.Pro81=) rs141429900
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325
NM_024649.5(BBS1):c.316C>G (p.Leu106Val) rs137853913
NM_024649.5(BBS1):c.338A>G (p.Tyr113Cys)
NM_024649.5(BBS1):c.345dup (p.Lys116Ter) rs1555046611
NM_024649.5(BBS1):c.363C>A (p.Tyr121Ter)
NM_024649.5(BBS1):c.378G>A (p.Leu126=) rs2298806
NM_024649.5(BBS1):c.416G>A (p.Trp139Ter) rs878855095
NM_024649.5(BBS1):c.432+13C>T rs759287238
NM_024649.5(BBS1):c.432+1G>A rs587777829
NM_024649.5(BBS1):c.432+9_432+12del rs1555046629
NM_024649.5(BBS1):c.433-2A>G rs1555046748
NM_024649.5(BBS1):c.441C>T (p.Ile147=)
NM_024649.5(BBS1):c.447C>T (p.Pro149=) rs763738657
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.48-3C>G rs869025204
NM_024649.5(BBS1):c.480-1G>C rs1057516933
NM_024649.5(BBS1):c.485C>A (p.Thr162Lys)
NM_024649.5(BBS1):c.496C>G (p.Pro166Ala)
NM_024649.5(BBS1):c.518+1G>A rs771517209
NM_024649.5(BBS1):c.519-2A>G rs1057516502
NM_024649.5(BBS1):c.616T>G (p.Leu206Val) rs146052054
NM_024649.5(BBS1):c.636C>T (p.Asp212=) rs775900681
NM_024649.5(BBS1):c.664G>C (p.Gly222Arg) rs761760689
NM_024649.5(BBS1):c.6C>T (p.Ala2=) rs143592479
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756
NM_024649.5(BBS1):c.724-1G>C rs748523268
NM_024649.5(BBS1):c.724-8G>C rs10896125
NM_024649.5(BBS1):c.777del (p.Glu260fs) rs1555047786
NM_024649.5(BBS1):c.786del (p.Ala264fs) rs1057516330
NM_024649.5(BBS1):c.803G>A (p.Arg268His) rs375949076
NM_024649.5(BBS1):c.830+12C>T rs781283997
NM_024649.5(BBS1):c.830+2T>C
NM_024649.5(BBS1):c.831-2A>G rs1057517332
NM_024649.5(BBS1):c.831-3C>G rs113994179
NM_024649.5(BBS1):c.831-5C>T rs56177555
NM_024649.5(BBS1):c.851del (p.Tyr284fs) rs587777830
NM_024649.5(BBS1):c.855C>A (p.Cys285Ter) rs1057516427
NM_024649.5(BBS1):c.867C>T (p.Ser289=)
NM_024649.5(BBS1):c.871C>T (p.Gln291Ter) rs1057517143
NM_024649.5(BBS1):c.951+1G>A rs746875134
NM_024649.5(BBS1):c.951+58C>T
NM_024649.5(BBS1):c.952-1G>A rs1057516661
NM_024649.5(BBS1):c.952-1G>C rs1057516661
NM_024649.5(BBS1):c.952G>A (p.Gly318Arg) rs1555048487
NM_024649.5(BBS1):c.981C>T (p.Pro327=) rs142243482
NM_024649.5(BBS1):c.981del (p.Ala328fs) rs1057516371
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro) rs1460517643
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601
NM_024685.4(BBS10):c.765G>A (p.Met255Ile) rs139658279
NM_024685.4(BBS10):c.943C>T (p.Gln315Ter) rs1592492255
NM_031885.4(BBS2):c.1413A>C (p.Val471=) rs35294865
NM_031885.4(BBS2):c.1422G>A (p.Ser474=) rs117033008
NM_031885.4(BBS2):c.1511C>T (p.Ala504Val) rs16957538
NM_031885.4(BBS2):c.1659+3A>G rs6499838
NM_031885.4(BBS2):c.367A>G (p.Ile123Val) rs11373
NM_031885.4(BBS2):c.612+12C>A rs77019529
NM_031885.4(BBS2):c.805-20A>G rs41280892
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr) rs2277598
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) rs75295839
NM_033028.5(BBS4):c.76+19G>T rs4777527
NM_033028.5(BBS4):c.77-6G>A rs8033604
NM_152618.3(BBS12):c.1062G>C (p.Val354=) rs34296401
NM_152618.3(BBS12):c.1157G>A (p.Arg386Gln) rs309370
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823
NM_152618.3(BBS12):c.1209G>A (p.Val403=) rs17006092
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr) rs7665271
NM_152618.3(BBS12):c.1380G>C (p.Val460=) rs13135766
NM_152618.3(BBS12):c.1381A>C (p.Asn461His) rs10027479
NM_152618.3(BBS12):c.1399G>A (p.Asp467Asn) rs13135778
NM_152618.3(BBS12):c.1410C>T (p.Cys470=) rs13135445
NM_152618.3(BBS12):c.1451G>A (p.Arg484Lys) rs35690634
NM_152618.3(BBS12):c.1847G>A (p.Ser616Asn) rs28507107
NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg) rs139278612
NM_152618.3(BBS12):c.1872A>G (p.Gln624=) rs13102440
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys) rs17006082
NM_176824.3(BBS7):c.1505A>G (p.His502Arg) rs114718913
NM_176824.3(BBS7):c.1512-7A>T rs115987385
NM_176824.3(BBS7):c.186C>T (p.Pro62=) rs35194418
NM_176824.3(BBS7):c.1890+16G>A rs1507994
NM_176824.3(BBS7):c.1891-12C>A rs2706793
NM_198428.3(BBS9):c.1246G>A (p.Val416Met) rs61764067
NM_198428.3(BBS9):c.1363G>A (p.Ala455Thr) rs11773504
NM_198428.3(BBS9):c.1546C>A (p.Pro516Thr) rs73688160
NM_198428.3(BBS9):c.1562G>A (p.Arg521Gln) rs34218557
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val) rs150399299
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs) rs606231137
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe) rs116262072
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val) rs116483694
NM_198428.3(BBS9):c.2299-20A>C rs17727583
NM_198428.3(BBS9):c.2470C>T (p.Arg824Cys) rs146752751
NM_198428.3(BBS9):c.2632+9C>A rs148654647

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