ClinVar Miner

List of variants reported as likely pathogenic for Bardet-Biedl syndrome 1

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ClinVar version:
Total variants: 119
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00188
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp) rs768933093 0.00004
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp) rs148374859 0.00004
NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr) rs200116631 0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444 0.00003
NM_024649.5(BBS1):c.724-1G>C rs748523268 0.00003
NM_024649.5(BBS1):c.1110+329C>T rs571170303 0.00002
NM_024649.5(BBS1):c.479+2T>G rs1353098253 0.00002
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys) rs193922709 0.00002
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro) rs1460517643 0.00002
NM_024649.5(BBS1):c.1111-2A>G rs761969357 0.00001
NM_024649.5(BBS1):c.1147C>T (p.Arg383Trp) rs143495423 0.00001
NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter) rs1014835928 0.00001
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro) rs121917778 0.00001
NM_024649.5(BBS1):c.1643dup (p.Glu549fs) rs773632109 0.00001
NM_024649.5(BBS1):c.416G>A (p.Trp139Ter) rs878855095 0.00001
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn) rs200688985 0.00001
NM_024649.5(BBS1):c.48-2A>C rs764245266 0.00001
NM_024649.5(BBS1):c.518+1G>A rs771517209 0.00001
NM_024649.5(BBS1):c.723+1G>C rs1295318869 0.00001
NM_024649.5(BBS1):c.830+2T>C rs1856209722 0.00001
NM_024649.5(BBS1):c.890G>A (p.Arg297Gln) rs372092113 0.00001
NM_024649.5(BBS1):c.951+1G>A rs746875134 0.00001
NM_024649.5(BBS1):c.952-1G>A rs1057516661 0.00001
NM_024685.4(BBS10):c.1804G>C (p.Val602Leu) rs778431173 0.00001
NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu) rs28938468 0.00001
NM_024649.5(BBS1):c.1009G>T (p.Glu337Ter) rs1856358703
NM_024649.5(BBS1):c.1009del (p.Glu337fs) rs2495779544
NM_024649.5(BBS1):c.1021delinsGG (p.Arg341fs) rs2495779682
NM_024649.5(BBS1):c.106_107del (p.Thr36fs) rs1223395982
NM_024649.5(BBS1):c.1072del (p.Tyr358fs) rs1057516533
NM_024649.5(BBS1):c.1100T>A (p.Ile367Asn) rs1565286202
NM_024649.5(BBS1):c.1143C>A (p.Tyr381Ter) rs1021331909
NM_024649.5(BBS1):c.1164CAT[1] (p.Ile389del) rs1401696592
NM_024649.5(BBS1):c.1178_1179delinsATGAGT (p.Arg393fs)
NM_024649.5(BBS1):c.1181-9C>G rs769820955
NM_024649.5(BBS1):c.1181_1191del rs2495800506
NM_024649.5(BBS1):c.1198A>T (p.Lys400Ter) rs1421044140
NM_024649.5(BBS1):c.1214_1215del (p.Thr405fs) rs2495800891
NM_024649.5(BBS1):c.124+1G>C rs1057516449
NM_024649.5(BBS1):c.1240G>T (p.Glu414Ter) rs1060503690
NM_024649.5(BBS1):c.1253del (p.Pro418fs) rs2495801307
NM_024649.5(BBS1):c.1261C>T (p.Gln421Ter) rs1856520165
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.130del (p.Ala44fs) rs2134765690
NM_024649.5(BBS1):c.1339+2T>A
NM_024649.5(BBS1):c.1340-1G>T rs1555049893
NM_024649.5(BBS1):c.1385_1401dup (p.Leu468fs) rs1166459319
NM_024649.5(BBS1):c.1393_1394insTGCC (p.Arg465fs) rs1555049933
NM_024649.5(BBS1):c.1401C>G (p.Tyr467Ter) rs2495830435
NM_024649.5(BBS1):c.1423del (p.Ser474_Leu475insTer) rs1057516901
NM_024649.5(BBS1):c.1498A>T (p.Lys500Ter) rs1445972147
NM_024649.5(BBS1):c.1531del (p.Thr511fs)
NM_024649.5(BBS1):c.1548_1551dup (p.Leu518fs)
NM_024649.5(BBS1):c.1564del (p.Leu522fs) rs2134837160
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del) rs863224782
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.159+2del rs1348187150
NM_024649.5(BBS1):c.1608+1G>A rs1856758582
NM_024649.5(BBS1):c.1609-2A>T rs1555050394
NM_024649.5(BBS1):c.1642dup (p.Leu548fs)
NM_024649.5(BBS1):c.1682C>G (p.Ser561Ter) rs1856790811
NM_024649.5(BBS1):c.1696-14_1697del
NM_024649.5(BBS1):c.1708C>T (p.Arg570Ter) rs1434577015
NM_024649.5(BBS1):c.1717C>T (p.Gln573Ter) rs1450045618
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>G (p.Met1Val) rs1306821707
NM_024649.5(BBS1):c.1A>T (p.Met1Leu) rs1306821707
NM_024649.5(BBS1):c.214A>T (p.Lys72Ter) rs1856007963
NM_024649.5(BBS1):c.223_224del (p.Leu75fs) rs1057516451
NM_024649.5(BBS1):c.319dup (p.Ala107fs) rs1856010064
NM_024649.5(BBS1):c.345dup (p.Lys116Ter) rs1555046611
NM_024649.5(BBS1):c.406C>T (p.Gln136Ter) rs1856011738
NM_024649.5(BBS1):c.424del (p.Ala142fs)
NM_024649.5(BBS1):c.433-2A>G rs1555046748
NM_024649.5(BBS1):c.434dup (p.Asp145fs) rs2495739801
NM_024649.5(BBS1):c.46dup (p.Ser16fs) rs2495726324
NM_024649.5(BBS1):c.47+1G>T rs1475257145
NM_024649.5(BBS1):c.47+2T>C rs1182864166
NM_024649.5(BBS1):c.47+2T>G rs1182864166
NM_024649.5(BBS1):c.48-1G>T rs751753112
NM_024649.5(BBS1):c.480-1G>C rs1057516933
NM_024649.5(BBS1):c.480-2A>C rs1856035426
NM_024649.5(BBS1):c.519-2A>G rs1057516502
NM_024649.5(BBS1):c.579dup (p.Ile194fs) rs2495741505
NM_024649.5(BBS1):c.591+1G>A rs2495741578
NM_024649.5(BBS1):c.595_598del (p.Val199fs) rs1555047409
NM_024649.5(BBS1):c.667del (p.Thr223fs) rs2495752615
NM_024649.5(BBS1):c.69G>A (p.Trp23Ter) rs2495728074
NM_024649.5(BBS1):c.700G>T (p.Glu234Ter) rs35520756
NM_024649.5(BBS1):c.70_73del (p.Leu24fs) rs2495728066
NM_024649.5(BBS1):c.71T>A (p.Leu24Ter) rs1855932058
NM_024649.5(BBS1):c.71dup (p.Leu24fs) rs1855932012
NM_024649.5(BBS1):c.723+1G>A rs1295318869
NM_024649.5(BBS1):c.723+2T>C rs2495752994
NM_024649.5(BBS1):c.723+2T>G rs2495752994
NM_024649.5(BBS1):c.724-1G>A
NM_024649.5(BBS1):c.734_735del (p.Pro245fs) rs2495759836
NM_024649.5(BBS1):c.752del (p.Leu251fs) rs2134784600
NM_024649.5(BBS1):c.777del (p.Glu260fs) rs1555047786
NM_024649.5(BBS1):c.786del (p.Ala264fs) rs1057516330
NM_024649.5(BBS1):c.788_797dup (p.Asn269fs) rs1311699085
NM_024649.5(BBS1):c.795_804dup (p.Asn269fs) rs2495760531
NM_024649.5(BBS1):c.830+1G>T rs200335137
NM_024649.5(BBS1):c.831-2A>G rs1057517332
NM_024649.5(BBS1):c.855C>A (p.Cys285Ter) rs1057516427
NM_024649.5(BBS1):c.855dup (p.Ile286fs) rs2495776834
NM_024649.5(BBS1):c.951+2T>G rs1590766771
NM_024649.5(BBS1):c.954del
NM_024649.5(BBS1):c.965G>A (p.Trp322Ter) rs1856354695
NM_024649.5(BBS1):c.966G>A (p.Trp322Ter) rs2495779138
NM_024649.5(BBS1):c.981del (p.Ala328fs) rs1057516371
NM_024685.4(BBS10):c.943C>T (p.Gln315Ter) rs1592492255
NM_031885.5(BBS2):c.1528G>T (p.Val510Phe) rs766098919
NM_176824.3(BBS7):c.68T>G (p.Leu23Arg) rs1727380420

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