ClinVar Miner

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

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 523
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.4813-2A>G rs369523378 0.00046
NM_170784.3(MKKS):c.250C>T (p.His84Tyr) rs281797258 0.00025
NM_176824.3(BBS7):c.968A>G (p.His323Arg) rs119466001 0.00010
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00006
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398 0.00006
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro) rs767068756 0.00005
NM_017777.4(MKS1):c.190+2T>C rs375170572 0.00004
NM_025114.4(CEP290):c.4438-3del rs747323414 0.00004
NM_152618.3(BBS12):c.476C>T (p.Pro159Leu) rs1450190654 0.00004
NM_176824.3(BBS7):c.187G>A (p.Gly63Arg) rs754579374 0.00004
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp) rs137853105 0.00003
NM_176824.3(BBS7):c.1037G>A (p.Arg346Gln) rs370716101 0.00003
NM_176824.3(BBS7):c.1654dup (p.Thr552fs) rs773052355 0.00003
NM_017777.4(MKS1):c.958G>A (p.Val320Ile) rs386834053 0.00002
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_025114.4(CEP290):c.3708dup (p.Arg1237fs) rs758991387 0.00002
NM_025114.4(CEP290):c.7282_7283dup (p.Tyr2429fs) rs767231715 0.00002
NM_025114.4(CEP290):c.7287T>A (p.Tyr2429Ter) rs775189201 0.00002
NM_031885.5(BBS2):c.118G>T (p.Val40Phe) rs886043059 0.00002
NM_033028.5(BBS4):c.1375C>T (p.Gln459Ter) rs914062190 0.00002
NM_017777.4(MKS1):c.1031C>G (p.Ser344Ter) rs760971749 0.00001
NM_017777.4(MKS1):c.1095+1G>A rs747740477 0.00001
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu) rs773684291 0.00001
NM_017777.4(MKS1):c.1497del (p.Phe499fs) rs780161503 0.00001
NM_017777.4(MKS1):c.508C>T (p.Arg170Ter) rs756853299 0.00001
NM_017777.4(MKS1):c.844C>T (p.Arg282Ter) rs797045706 0.00001
NM_024649.5(BBS1):c.1111-2A>G rs761969357 0.00001
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro) rs121917778 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.723+1G>C rs1295318869 0.00001
NM_024685.4(BBS10):c.198-1G>C rs1555202740 0.00001
NM_024685.4(BBS10):c.539G>A (p.Gly180Glu) rs1555202697 0.00001
NM_025114.4(CEP290):c.1190-2A>G rs200818935 0.00001
NM_025114.4(CEP290):c.181-2A>G rs886042359 0.00001
NM_025114.4(CEP290):c.2414T>C (p.Leu805Pro) rs762633090 0.00001
NM_025114.4(CEP290):c.307C>T (p.Gln103Ter) rs752144368 0.00001
NM_025114.4(CEP290):c.3167C>A (p.Ser1056Ter) rs1267970567 0.00001
NM_025114.4(CEP290):c.3309+2T>C rs1007902545 0.00001
NM_025114.4(CEP290):c.4651C>T (p.Gln1551Ter) rs746305733 0.00001
NM_025114.4(CEP290):c.5012+2T>C rs1369768287 0.00001
NM_025114.4(CEP290):c.6358-1G>A rs766670248 0.00001
NM_025114.4(CEP290):c.6703G>T (p.Glu2235Ter) rs1375836634 0.00001
NM_031885.5(BBS2):c.1112del (p.Asp371fs) rs1472488128 0.00001
NM_031885.5(BBS2):c.1946_1952del (p.Asp649fs) rs745951028 0.00001
NM_031885.5(BBS2):c.1986dup (p.Asn663Ter) rs1597001788 0.00001
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter) rs567573386 0.00001
NM_031885.5(BBS2):c.241G>T (p.Gly81Cys) rs750506474 0.00001
NM_031885.5(BBS2):c.471G>A (p.Thr157=) rs749983428 0.00001
NM_031885.5(BBS2):c.522T>A (p.Asp174Glu) rs767373822 0.00001
NM_031885.5(BBS2):c.940+1del rs746171104 0.00001
NM_033028.5(BBS4):c.1072_1073del (p.Lys358fs) rs2065896039 0.00001
NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu) rs28938468 0.00001
NM_033028.5(BBS4):c.1103A>G (p.Asp368Gly) rs772548770 0.00001
NM_152618.3(BBS12):c.1394T>C (p.Val465Ala) rs1357690062 0.00001
NM_152618.3(BBS12):c.1574G>A (p.Arg525His) rs776730549 0.00001
NM_152618.3(BBS12):c.1749C>G (p.Tyr583Ter) rs1284876635 0.00001
NM_152618.3(BBS12):c.445C>T (p.Gln149Ter) rs1194574169 0.00001
NM_152618.3(BBS12):c.640C>T (p.Arg214Ter) rs745448288 0.00001
NM_170784.3(MKKS):c.1034G>A (p.Gly345Glu) rs779116830 0.00001
NM_170784.3(MKKS):c.169A>G (p.Thr57Ala) rs74315399 0.00001
NM_170784.3(MKKS):c.29C>A (p.Ser10Ter) rs758356262 0.00001
NM_170784.3(MKKS):c.748G>A (p.Gly250Arg) rs768929313 0.00001
NM_176824.3(BBS7):c.1458C>G (p.Tyr486Ter) rs1470030897 0.00001
NM_176824.3(BBS7):c.198T>G (p.Ile66Met) rs367765050 0.00001
NM_176824.3(BBS7):c.849+1G>C rs763719688 0.00001
NM_176824.3(BBS7):c.878A>C (p.Gln293Pro) rs889417696 0.00001
NM_198428.3(BBS9):c.1370T>A (p.Leu457Ter) rs762511626 0.00001
NM_017777.4(MKS1):c.1025-2A>C rs794727070
NM_017777.4(MKS1):c.1045C>T (p.Gln349Ter)
NM_017777.4(MKS1):c.1074C>A (p.Cys358Ter)
NM_017777.4(MKS1):c.1165+2T>C
NM_017777.4(MKS1):c.1166-2A>G rs1488635637
NM_017777.4(MKS1):c.119_126dup (p.Pro43fs)
NM_017777.4(MKS1):c.1203_1209delinsTCTCT (p.Leu404fs)
NM_017777.4(MKS1):c.1222C>T (p.Gln408Ter) rs781423785
NM_017777.4(MKS1):c.1274-2A>C
NM_017777.4(MKS1):c.1394del (p.Pro465fs) rs865870355
NM_017777.4(MKS1):c.1408-1dup rs762668200
NM_017777.4(MKS1):c.1447_1490+22del
NM_017777.4(MKS1):c.1490+1G>A rs2143737350
NM_017777.4(MKS1):c.1501G>T (p.Glu501Ter)
NM_017777.4(MKS1):c.171del (p.Phe57fs)
NM_017777.4(MKS1):c.184_190del (p.Thr62fs) rs386834046
NM_017777.4(MKS1):c.190+1G>A
NM_017777.4(MKS1):c.259C>T (p.Gln87Ter)
NM_017777.4(MKS1):c.458C>A (p.Ser153Ter) rs903778224
NM_017777.4(MKS1):c.516-2A>G rs2143805609
NM_017777.4(MKS1):c.766del (p.Glu256fs)
NM_017777.4(MKS1):c.766dup (p.Glu256fs)
NM_017777.4(MKS1):c.805dup (p.Ser269fs) rs1320893771
NM_017777.4(MKS1):c.81_82del
NM_017777.4(MKS1):c.829G>T (p.Glu277Ter) rs1555599412
NM_024649.5(BBS1):c.1021delinsGG (p.Arg341fs)
NM_024649.5(BBS1):c.1181_1191del
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.1564del (p.Leu522fs) rs2134837160
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del) rs863224782
NM_024649.5(BBS1):c.159+2del rs1348187150
NM_024649.5(BBS1):c.1682C>G (p.Ser561Ter) rs1856790811
NM_024649.5(BBS1):c.319dup (p.Ala107fs) rs1856010064
NM_024649.5(BBS1):c.406C>T (p.Gln136Ter) rs1856011738
NM_024649.5(BBS1):c.46dup (p.Ser16fs)
NM_024649.5(BBS1):c.47+2T>G
NM_024649.5(BBS1):c.579dup (p.Ile194fs)
NM_024649.5(BBS1):c.591+1G>A
NM_024649.5(BBS1):c.70_73del (p.Leu24fs)
NM_024649.5(BBS1):c.723+1G>A
NM_024649.5(BBS1):c.723+2T>C
NM_024649.5(BBS1):c.723+2T>G
NM_024649.5(BBS1):c.830+1G>T
NM_024649.5(BBS1):c.831-2A>G rs1057517332
NM_024649.5(BBS1):c.855dup (p.Ile286fs)
NM_024649.5(BBS1):c.951+2T>G
NM_024649.5(BBS1):c.981del (p.Ala328fs) rs1057516371
NM_024685.4(BBS10):c.1076del (p.Gln359fs)
NM_024685.4(BBS10):c.1184A>G (p.His395Arg) rs1368733646
NM_024685.4(BBS10):c.1236_1248del (p.Asp412fs) rs1057517156
NM_024685.4(BBS10):c.1315del (p.Gln439fs) rs1592491950
NM_024685.4(BBS10):c.1335_1338del (p.Tyr448fs) rs1389599028
NM_024685.4(BBS10):c.1526_1527dup (p.Thr510fs)
NM_024685.4(BBS10):c.1554_1557del (p.Thr519fs)
NM_024685.4(BBS10):c.1606del (p.Tyr536fs)
NM_024685.4(BBS10):c.1623_1624insGT (p.Lys542fs)
NM_024685.4(BBS10):c.1654_1655del (p.Gly552fs)
NM_024685.4(BBS10):c.1664_1668del (p.Ile555fs) rs1057516669
NM_024685.4(BBS10):c.1676del (p.Tyr559fs)
NM_024685.4(BBS10):c.1701dup (p.Thr568fs)
NM_024685.4(BBS10):c.171_174dup (p.His59fs)
NM_024685.4(BBS10):c.1724del (p.Pro575fs) rs1057516754
NM_024685.4(BBS10):c.1860dup (p.Cys621fs)
NM_024685.4(BBS10):c.1871C>G (p.Ser624Ter) rs768385647
NM_024685.4(BBS10):c.1949del (p.Gly650fs) rs769028262
NM_024685.4(BBS10):c.1959del (p.Pro655fs) rs1057516628
NM_024685.4(BBS10):c.2024dup (p.Thr676fs)
NM_024685.4(BBS10):c.2052del (p.Lys684fs) rs1951753726
NM_024685.4(BBS10):c.2137_2140del (p.Lys713fs) rs1555202538
NM_024685.4(BBS10):c.214_215del (p.Val72fs) rs1057516861
NM_024685.4(BBS10):c.214_215dup (p.Ser73fs) rs1057516861
NM_024685.4(BBS10):c.22_35delinsTCAG (p.Ala8fs)
NM_024685.4(BBS10):c.235del (p.Thr79fs) rs760693838
NM_024685.4(BBS10):c.253del (p.Thr85fs)
NM_024685.4(BBS10):c.254_255insG (p.Phe86fs)
NM_024685.4(BBS10):c.330_331del (p.Cys110_Glu111delinsTer)
NM_024685.4(BBS10):c.360G>A (p.Trp120Ter) rs1951771573
NM_024685.4(BBS10):c.461del (p.Leu154fs)
NM_024685.4(BBS10):c.473C>A (p.Ser158Ter) rs553291328
NM_024685.4(BBS10):c.484G>T (p.Glu162Ter)
NM_024685.4(BBS10):c.488_489del (p.Arg163fs)
NM_024685.4(BBS10):c.568_571del (p.Ile190fs) rs1057516266
NM_024685.4(BBS10):c.590A>G (p.Tyr197Cys) rs756632517
NM_024685.4(BBS10):c.641T>A (p.Val214Glu)
NM_024685.4(BBS10):c.793C>T (p.Gln265Ter) rs775090151
NM_024685.4(BBS10):c.807dup (p.Thr270fs)
NM_024685.4(BBS10):c.844_845del (p.Gln282fs)
NM_024685.4(BBS10):c.859C>T (p.Gln287Ter)
NM_024685.4(BBS10):c.899A>C (p.His300Pro)
NM_024685.4(BBS10):c.943C>T (p.Gln315Ter) rs1592492255
NM_024685.4(BBS10):c.962A>G (p.Tyr321Cys) rs771325212
NM_024685.4(BBS10):c.963T>G (p.Tyr321Ter) rs1555202662
NM_024685.4(BBS10):c.992T>C (p.Val331Ala)
NM_024685.4(BBS10):c.9_10insAT (p.Ser4fs)
NM_025114.4(CEP290):c.102+2T>A
NM_025114.4(CEP290):c.102+2T>G rs763226787
NM_025114.4(CEP290):c.1039A>T (p.Lys347Ter)
NM_025114.4(CEP290):c.1060C>T (p.Gln354Ter) rs2138021345
NM_025114.4(CEP290):c.1169dup (p.Asn390fs)
NM_025114.4(CEP290):c.1171G>T (p.Glu391Ter)
NM_025114.4(CEP290):c.1225del (p.Ile409fs) rs1287628446
NM_025114.4(CEP290):c.1254_1255del (p.Lys419fs) rs897997464
NM_025114.4(CEP290):c.1258dup (p.Thr420fs) rs868650061
NM_025114.4(CEP290):c.1347dup (p.Asp450fs) rs774490795
NM_025114.4(CEP290):c.1359+1G>A rs935130451
NM_025114.4(CEP290):c.1390G>T (p.Glu464Ter) rs1437841365
NM_025114.4(CEP290):c.1397_1400del (p.Lys466fs)
NM_025114.4(CEP290):c.1439_1450delinsG (p.Glu480fs)
NM_025114.4(CEP290):c.1453dup (p.Glu485fs)
NM_025114.4(CEP290):c.1471_1475del (p.Leu491fs)
NM_025114.4(CEP290):c.1495G>T (p.Glu499Ter)
NM_025114.4(CEP290):c.1512_1515del (p.Arg504fs) rs886043303
NM_025114.4(CEP290):c.1516del (p.Arg506fs)
NM_025114.4(CEP290):c.1616del (p.Leu538_Leu539insTer)
NM_025114.4(CEP290):c.1657A>T (p.Lys553Ter)
NM_025114.4(CEP290):c.1668del (p.Arg557fs) rs2039204524
NM_025114.4(CEP290):c.1824+1G>A
NM_025114.4(CEP290):c.1835_1838del (p.Leu612fs)
NM_025114.4(CEP290):c.1909+1G>T
NM_025114.4(CEP290):c.1914del (p.Glu639fs)
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter) rs1555220625
NM_025114.4(CEP290):c.2140G>T (p.Glu714Ter) rs1440259390
NM_025114.4(CEP290):c.2176del (p.Ala726fs)
NM_025114.4(CEP290):c.2217+2T>C rs2038702746
NM_025114.4(CEP290):c.2217+2T>G
NM_025114.4(CEP290):c.2218-2A>G
NM_025114.4(CEP290):c.2304del (p.Gly768_Ile769insTer)
NM_025114.4(CEP290):c.2355dup (p.His786fs)
NM_025114.4(CEP290):c.2389_2390del (p.Lys797fs)
NM_025114.4(CEP290):c.2404_2433delinsAC (p.Glu802fs)
NM_025114.4(CEP290):c.2433del (p.Lys811fs) rs2137663442
NM_025114.4(CEP290):c.2478C>G (p.Tyr826Ter)
NM_025114.4(CEP290):c.2510del (p.Ser837fs)
NM_025114.4(CEP290):c.2586+1G>A
NM_025114.4(CEP290):c.2587-1G>T
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs) rs1221464366
NM_025114.4(CEP290):c.2632del (p.Ile878fs) rs1404507934
NM_025114.4(CEP290):c.2632dup (p.Ile878fs)
NM_025114.4(CEP290):c.2794dup (p.Ile932fs)
NM_025114.4(CEP290):c.292_293insA (p.Leu98fs) rs2040497202
NM_025114.4(CEP290):c.2933del (p.Asp978fs)
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter) rs1057518822
NM_025114.4(CEP290):c.2991+1G>A
NM_025114.4(CEP290):c.2992-1G>A
NM_025114.4(CEP290):c.3104-2A>G rs773386777
NM_025114.4(CEP290):c.3123dup (p.Lys1042Ter) rs1555212271
NM_025114.4(CEP290):c.3187G>T (p.Glu1063Ter)
NM_025114.4(CEP290):c.3200T>G (p.Leu1067Ter)
NM_025114.4(CEP290):c.3234_3235del (p.Lys1078fs)
NM_025114.4(CEP290):c.3493C>T (p.Gln1165Ter) rs2036977924
NM_025114.4(CEP290):c.3596del (p.Leu1199fs)
NM_025114.4(CEP290):c.3606_3615del (p.Lys1202fs)
NM_025114.4(CEP290):c.3736G>T (p.Glu1246Ter)
NM_025114.4(CEP290):c.3739C>T (p.Gln1247Ter)
NM_025114.4(CEP290):c.3745_3748del (p.Leu1249fs) rs2137276301
NM_025114.4(CEP290):c.3750_3753delinsA (p.Tyr1250_Tyr1251delinsTer)
NM_025114.4(CEP290):c.3783del (p.Lys1261fs) rs2036833257
NM_025114.4(CEP290):c.3799del (p.Ile1267fs)
NM_025114.4(CEP290):c.3825_3829del (p.Gly1276fs)
NM_025114.4(CEP290):c.3897_3901del (p.Lys1299fs)
NM_025114.4(CEP290):c.3917del (p.Asn1306fs)
NM_025114.4(CEP290):c.3925C>T (p.Gln1309Ter) rs2036816455
NM_025114.4(CEP290):c.3988G>T (p.Glu1330Ter)
NM_025114.4(CEP290):c.4033del (p.Ile1345fs)
NM_025114.4(CEP290):c.4081_4084del (p.Leu1361fs)
NM_025114.4(CEP290):c.4348_4356delinsTC (p.Pro1450fs)
NM_025114.4(CEP290):c.441+1G>C
NM_025114.4(CEP290):c.4704+1G>T rs1565835538
NM_025114.4(CEP290):c.476del (p.Asn159fs)
NM_025114.4(CEP290):c.4771del (p.Gln1591fs)
NM_025114.4(CEP290):c.4855dup (p.His1619fs)
NM_025114.4(CEP290):c.4879G>T (p.Glu1627Ter)
NM_025114.4(CEP290):c.4943C>G (p.Ser1648Ter)
NM_025114.4(CEP290):c.4985_4986del (p.Val1662fs) rs2036306894
NM_025114.4(CEP290):c.5012+1G>A
NM_025114.4(CEP290):c.5012+2T>G
NM_025114.4(CEP290):c.5098G>T (p.Glu1700Ter)
NM_025114.4(CEP290):c.5104_5105del (p.Gln1702fs) rs766259648
NM_025114.4(CEP290):c.5136_5139del (p.Glu1713fs) rs995093343
NM_025114.4(CEP290):c.5147C>A (p.Ser1716Ter)
NM_025114.4(CEP290):c.5192dup (p.Ser1732fs)
NM_025114.4(CEP290):c.5223_5224del (p.Lys1742fs)
NM_025114.4(CEP290):c.5235_5238del (p.Ser1745fs) rs775969711
NM_025114.4(CEP290):c.5242del (p.Leu1748fs)
NM_025114.4(CEP290):c.5254C>T (p.Arg1752Trp) rs748471942
NM_025114.4(CEP290):c.532C>T (p.Gln178Ter) rs2039993548
NM_025114.4(CEP290):c.5418_5422del (p.Lys1806_Thr1807insTer)
NM_025114.4(CEP290):c.5728_5731del (p.Ile1910fs) rs754728136
NM_025114.4(CEP290):c.574_577del (p.Glu192fs)
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter) rs561598805
NM_025114.4(CEP290):c.5791_5794del (p.Glu1931fs) rs2136964385
NM_025114.4(CEP290):c.5794A>T (p.Lys1932Ter)
NM_025114.4(CEP290):c.5798_5799del (p.Glu1933fs)
NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter) rs886042360
NM_025114.4(CEP290):c.5822del (p.Lys1941fs)
NM_025114.4(CEP290):c.584T>G (p.Leu195Ter)
NM_025114.4(CEP290):c.584del (p.Leu195fs) rs1277316340
NM_025114.4(CEP290):c.5855+1G>A
NM_025114.4(CEP290):c.5855+2T>G
NM_025114.4(CEP290):c.5953del (p.Glu1985fs)
NM_025114.4(CEP290):c.5962G>T (p.Glu1988Ter) rs2035358840
NM_025114.4(CEP290):c.5972del (p.Lys1991fs) rs1468269366
NM_025114.4(CEP290):c.6011+2T>G
NM_025114.4(CEP290):c.6138_6139delinsC (p.Ser2047fs)
NM_025114.4(CEP290):c.6152C>G (p.Ser2051Ter)
NM_025114.4(CEP290):c.6226A>T (p.Lys2076Ter)
NM_025114.4(CEP290):c.6249dup (p.Lys2084Ter)
NM_025114.4(CEP290):c.626del (p.Ser209fs)
NM_025114.4(CEP290):c.6270+1G>T
NM_025114.4(CEP290):c.6270+2T>C
NM_025114.4(CEP290):c.6276_6280dup (p.Arg2094fs)
NM_025114.4(CEP290):c.6325G>T (p.Glu2109Ter)
NM_025114.4(CEP290):c.635dup (p.Asn212fs) rs769091629
NM_025114.4(CEP290):c.6364A>T (p.Arg2122Ter) rs1555197766
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs) rs1364945778
NM_025114.4(CEP290):c.6487dup (p.Met2163fs) rs2136748724
NM_025114.4(CEP290):c.6490del (p.Ala2164fs)
NM_025114.4(CEP290):c.6516del (p.Lys2172fs) rs1057519165
NM_025114.4(CEP290):c.6624del (p.Arg2208fs) rs2136725569
NM_025114.4(CEP290):c.6797G>A (p.Trp2266Ter) rs2034232539
NM_025114.4(CEP290):c.6818_6818+1dup rs1060499781
NM_025114.4(CEP290):c.6831del (p.Lys2278fs)
NM_025114.4(CEP290):c.6838A>T (p.Lys2280Ter)
NM_025114.4(CEP290):c.6892C>T (p.Gln2298Ter) rs2033937635
NM_025114.4(CEP290):c.6917_6920del (p.Arg2306fs) rs1177923180
NM_025114.4(CEP290):c.6919_6920del (p.Glu2307fs) rs1177923180
NM_025114.4(CEP290):c.6927del (p.Val2310fs)
NM_025114.4(CEP290):c.6928dup (p.Val2310fs)
NM_025114.4(CEP290):c.6933del (p.Asn2311fs)
NM_025114.4(CEP290):c.7024C>T (p.Gln2342Ter)
NM_025114.4(CEP290):c.7081C>T (p.Gln2361Ter)
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer) rs781310385
NM_025114.4(CEP290):c.7157_7158del (p.Lys2386fs)
NM_025114.4(CEP290):c.7162_7163del (p.Leu2388fs)
NM_025114.4(CEP290):c.7175_7176del (p.Leu2392fs)
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter) rs1478582091
NM_025114.4(CEP290):c.7209+1G>A
NM_025114.4(CEP290):c.7220_7223del (p.Lys2407fs) rs763762899
NM_025114.4(CEP290):c.7233del (p.Glu2412fs) rs2033254449
NM_025114.4(CEP290):c.7233dup (p.Glu2412fs) rs2033254449
NM_025114.4(CEP290):c.7248del (p.Phe2416fs)
NM_025114.4(CEP290):c.7256C>G (p.Ser2419Ter)
NM_025114.4(CEP290):c.7256_7259del (p.Ser2419fs)
NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter) rs773642187
NM_025114.4(CEP290):c.7288_7289dup (p.Asn2430fs) rs1482471100
NM_025114.4(CEP290):c.7311del (p.Asn2438fs)
NM_025114.4(CEP290):c.7327_7330delinsTATT (p.Glu2443_Lys2444delinsTyrTer)
NM_025114.4(CEP290):c.7341del (p.Lys2447fs) rs281865189
NM_025114.4(CEP290):c.833del (p.Asn278fs)
NM_025114.4(CEP290):c.853-2A>G
NM_025114.4(CEP290):c.942+1G>C rs2039897317
NM_031885.5(BBS2):c.1027C>T (p.Gln343Ter)
NM_031885.5(BBS2):c.1066G>T (p.Glu356Ter) rs1192804794
NM_031885.5(BBS2):c.1166_1169del (p.Val389fs) rs1964269329
NM_031885.5(BBS2):c.118-2A>C
NM_031885.5(BBS2):c.1225+2T>C
NM_031885.5(BBS2):c.1225+2dup
NM_031885.5(BBS2):c.1290dup (p.His431fs) rs777420525
NM_031885.5(BBS2):c.1310_1344del (p.Leu437fs)
NM_031885.5(BBS2):c.1355del (p.Pro452fs)
NM_031885.5(BBS2):c.1397+2T>C
NM_031885.5(BBS2):c.1453_1456dup (p.Leu486fs)
NM_031885.5(BBS2):c.157del (p.Ser53fs)
NM_031885.5(BBS2):c.1594C>T (p.Gln532Ter)
NM_031885.5(BBS2):c.1725dup (p.Ala576fs)
NM_031885.5(BBS2):c.1762_1765del (p.Val588fs) rs1964155109
NM_031885.5(BBS2):c.1794dup (p.Lys599Ter)
NM_031885.5(BBS2):c.1843dup (p.Ala615fs) rs1199538371
NM_031885.5(BBS2):c.184dup (p.Leu62fs)
NM_031885.5(BBS2):c.1931dup (p.Tyr644Ter) rs1963758780
NM_031885.5(BBS2):c.1944T>A (p.Tyr648Ter)
NM_031885.5(BBS2):c.1969G>T (p.Gly657Ter) rs1166717771
NM_031885.5(BBS2):c.2038C>T (p.Gln680Ter) rs1555520220
NM_031885.5(BBS2):c.2059+1del
NM_031885.5(BBS2):c.224T>G (p.Val75Gly) rs121908174
NM_031885.5(BBS2):c.255del (p.Glu86fs) rs2144193104
NM_031885.5(BBS2):c.278T>A (p.Leu93Ter)
NM_031885.5(BBS2):c.284_285del (p.Gly95fs)
NM_031885.5(BBS2):c.289C>T (p.Gln97Ter) rs1964676925
NM_031885.5(BBS2):c.326C>A (p.Ser109Ter) rs181736797
NM_031885.5(BBS2):c.346-1G>C
NM_031885.5(BBS2):c.361_367delinsTTATGCAG (p.Asn121fs)
NM_031885.5(BBS2):c.406dup (p.Ala136fs)
NM_031885.5(BBS2):c.440del (p.Phe147fs) rs1433422530
NM_031885.5(BBS2):c.497T>A (p.Leu166Ter) rs1964558577
NM_031885.5(BBS2):c.534+2T>C
NM_031885.5(BBS2):c.535-1G>A
NM_031885.5(BBS2):c.559dup (p.Asp187fs)
NM_031885.5(BBS2):c.653G>A (p.Gly218Asp)
NM_031885.5(BBS2):c.718-2A>C rs1964413705
NM_031885.5(BBS2):c.940+1G>A
NM_031885.5(BBS2):c.941-1G>A
NM_033028.5(BBS4):c.101del (p.Lys34fs)
NM_033028.5(BBS4):c.1037-2A>G
NM_033028.5(BBS4):c.103C>T (p.Gln35Ter)
NM_033028.5(BBS4):c.10G>T (p.Glu4Ter)
NM_033028.5(BBS4):c.1106+1G>A
NM_033028.5(BBS4):c.1106+2T>C
NM_033028.5(BBS4):c.1106del (p.Lys369fs)
NM_033028.5(BBS4):c.1118T>A (p.Leu373Ter)
NM_033028.5(BBS4):c.1185T>A (p.Tyr395Ter)
NM_033028.5(BBS4):c.1202_1203dup (p.Val402fs)
NM_033028.5(BBS4):c.1248+1G>A
NM_033028.5(BBS4):c.1248+2dup
NM_033028.5(BBS4):c.1264C>T (p.Gln422Ter)
NM_033028.5(BBS4):c.1294dup (p.Glu432fs)
NM_033028.5(BBS4):c.1308G>A (p.Trp436Ter)
NM_033028.5(BBS4):c.1318_1321del (p.Val440fs) rs1281334523
NM_033028.5(BBS4):c.1389dup (p.Ser464fs)
NM_033028.5(BBS4):c.1398del (p.Ala467fs)
NM_033028.5(BBS4):c.1450+2T>C
NM_033028.5(BBS4):c.150del (p.Cys51fs)
NM_033028.5(BBS4):c.210_213del (p.Ile70fs) rs775928735
NM_033028.5(BBS4):c.220+1G>A
NM_033028.5(BBS4):c.24+1G>A rs759520211
NM_033028.5(BBS4):c.276_277del (p.Ala94fs)
NM_033028.5(BBS4):c.295C>T (p.Gln99Ter)
NM_033028.5(BBS4):c.333-2A>C
NM_033028.5(BBS4):c.341del (p.Leu114fs) rs750258633
NM_033028.5(BBS4):c.405G>A (p.Trp135Ter)
NM_033028.5(BBS4):c.406G>T (p.Glu136Ter)
NM_033028.5(BBS4):c.511dup (p.Tyr171fs)
NM_033028.5(BBS4):c.55C>T (p.Gln19Ter)
NM_033028.5(BBS4):c.584_585dup (p.Glu196fs)
NM_033028.5(BBS4):c.608_609del (p.Glu203fs)
NM_033028.5(BBS4):c.616dup (p.Thr206fs)
NM_033028.5(BBS4):c.638T>A (p.Leu213Ter) rs1060503692
NM_033028.5(BBS4):c.642+2T>G
NM_033028.5(BBS4):c.819del (p.Leu272_Trp273insTer)
NM_033028.5(BBS4):c.864+1G>A
NM_033028.5(BBS4):c.864+1G>C rs2151047618
NM_033028.5(BBS4):c.87del (p.Pro30fs)
NM_033028.5(BBS4):c.95T>A (p.Leu32Ter)
NM_033028.5(BBS4):c.960T>A (p.Tyr320Ter) rs770891152
NM_152618.3(BBS12):c.1007del (p.Thr336fs)
NM_152618.3(BBS12):c.1009_1010del (p.Val337fs) rs1553941369
NM_152618.3(BBS12):c.1073_1074del (p.Leu358fs)
NM_152618.3(BBS12):c.1083delinsGGGTG (p.Asp362fs) rs1800908907
NM_152618.3(BBS12):c.1095_1096del (p.Asn366fs) rs2150736865
NM_152618.3(BBS12):c.1140_1141del (p.Val381fs) rs1553941391
NM_152618.3(BBS12):c.1145T>A (p.Leu382Ter)
NM_152618.3(BBS12):c.1151del (p.Ser384fs) rs1553941404
NM_152618.3(BBS12):c.1175C>G (p.Ser392Ter) rs747159816
NM_152618.3(BBS12):c.1287_1290del (p.Lys430fs) rs766741204
NM_152618.3(BBS12):c.1289dup (p.Arg431fs)
NM_152618.3(BBS12):c.1339G>T (p.Glu447Ter)
NM_152618.3(BBS12):c.1482_1485del (p.Gly496fs)
NM_152618.3(BBS12):c.1531C>T (p.Gln511Ter)
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_152618.3(BBS12):c.1537C>T (p.Gln513Ter)
NM_152618.3(BBS12):c.1560G>A (p.Trp520Ter)
NM_152618.3(BBS12):c.1654_1655dup (p.Leu553fs)
NM_152618.3(BBS12):c.1672_1673del (p.Leu558fs)
NM_152618.3(BBS12):c.1799C>G (p.Ser600Ter)
NM_152618.3(BBS12):c.1886_1887del (p.Ser629fs)
NM_152618.3(BBS12):c.1910T>A (p.Leu637Ter)
NM_152618.3(BBS12):c.1993GTT[1] (p.Val666del)
NM_152618.3(BBS12):c.2053C>T (p.Gln685Ter) rs746020725
NM_152618.3(BBS12):c.424dup (p.Asp142fs) rs1553941258
NM_152618.3(BBS12):c.494C>G (p.Ser165Ter)
NM_152618.3(BBS12):c.49dup (p.Gln17fs) rs756061536
NM_152618.3(BBS12):c.568dup (p.Ser190fs) rs1553941279
NM_152618.3(BBS12):c.682C>T (p.Gln228Ter) rs769588983
NM_152618.3(BBS12):c.694dup (p.Ile232fs) rs2150736431
NM_152618.3(BBS12):c.719_720del (p.Thr240fs)
NM_152618.3(BBS12):c.760G>T (p.Glu254Ter) rs1553941304
NM_152618.3(BBS12):c.780_781del (p.His260fs) rs865920726
NM_152618.3(BBS12):c.789C>A (p.Tyr263Ter) rs974173261
NM_152618.3(BBS12):c.869_873del (p.Val290fs) rs1283655166
NM_152618.3(BBS12):c.911_912del (p.Cys304fs) rs2150736648
NM_152618.3(BBS12):c.948_952del (p.Phe316fs)
NM_170784.3(MKKS):c.1353del (p.Phe450_Cys451insTer)
NM_170784.3(MKKS):c.1410_1413del (p.Thr470_Asp471insTer)
NM_170784.3(MKKS):c.1434G>A (p.Trp478Ter)
NM_170784.3(MKKS):c.1486C>T (p.Gln496Ter)
NM_170784.3(MKKS):c.175C>T (p.Gln59Ter) rs1334961999
NM_170784.3(MKKS):c.182C>G (p.Ser61Ter)
NM_170784.3(MKKS):c.187_188dup (p.Leu64fs)
NM_170784.3(MKKS):c.221T>G (p.Leu74Ter)
NM_170784.3(MKKS):c.383_391delinsG (p.Ile128fs)
NM_170784.3(MKKS):c.40_41del (p.Lys13_Ser14insTer)
NM_170784.3(MKKS):c.432del (p.Phe144fs)
NM_170784.3(MKKS):c.432dup (p.Ser145Ter)
NM_170784.3(MKKS):c.515_516del (p.Glu172fs) rs2064904675
NM_170784.3(MKKS):c.611del (p.Pro203_Leu204insTer)
NM_170784.3(MKKS):c.619C>T (p.Gln207Ter)
NM_170784.3(MKKS):c.61A>T (p.Arg21Ter)
NM_170784.3(MKKS):c.668C>A (p.Ser223Ter)
NM_170784.3(MKKS):c.732_733del (p.Phe244fs)
NM_170784.3(MKKS):c.845dup (p.Leu283fs) rs1555801973
NM_170784.3(MKKS):c.871G>T (p.Val291Phe)
NM_170784.3(MKKS):c.886del (p.Val296fs)
NM_170784.3(MKKS):c.940_941del (p.Asp314fs) rs2064897670
NM_170784.3(MKKS):c.942_945del (p.Asp314fs)
NM_170784.3(MKKS):c.950_960del (p.Gly317fs)
NM_170784.3(MKKS):c.966del (p.Glu322fs)
NM_176824.3(BBS7):c.1062_1063del (p.Tyr354_Lys355delinsTer) rs773139166
NM_176824.3(BBS7):c.1072C>T (p.Gln358Ter)
NM_176824.3(BBS7):c.1083_1084del (p.Asn362fs) rs577434138
NM_176824.3(BBS7):c.115_116del (p.Asp39fs)
NM_176824.3(BBS7):c.1190_1194del (p.Ile397fs)
NM_176824.3(BBS7):c.1201C>T (p.Gln401Ter)
NM_176824.3(BBS7):c.1371+1G>A rs1578537379
NM_176824.3(BBS7):c.1489del (p.Thr497fs)
NM_176824.3(BBS7):c.149dup (p.Lys51fs)
NM_176824.3(BBS7):c.1512-1G>A rs2149054421
NM_176824.3(BBS7):c.1551del (p.Phe517fs)
NM_176824.3(BBS7):c.1592_1597del (p.Val531_Pro532del) rs587777836
NM_176824.3(BBS7):c.1677-2A>G
NM_176824.3(BBS7):c.1685del (p.Glu562fs)
NM_176824.3(BBS7):c.1804_1807del (p.Val602fs)
NM_176824.3(BBS7):c.1846C>T (p.Gln616Ter)
NM_176824.3(BBS7):c.1891-2A>C rs1057519027
NM_176824.3(BBS7):c.1946_1947insCTAGATAT (p.Ile649_Leu650insTer)
NM_176824.3(BBS7):c.293_294del (p.Lys98fs)
NM_176824.3(BBS7):c.328del (p.Ser110fs)
NM_176824.3(BBS7):c.341+2T>C
NM_176824.3(BBS7):c.389_390del (p.Asn130fs) rs863224530
NM_176824.3(BBS7):c.420T>G (p.Tyr140Ter)
NM_176824.3(BBS7):c.517dup (p.Arg173fs)
NM_176824.3(BBS7):c.613_614del (p.Glu205fs)
NM_176824.3(BBS7):c.649dup (p.Ala217fs) rs886044668
NM_176824.3(BBS7):c.718+1G>C
NM_176824.3(BBS7):c.719-2A>G
NM_176824.3(BBS7):c.725dup (p.Leu242fs)
NM_176824.3(BBS7):c.72del (p.Pro25fs)
NM_176824.3(BBS7):c.790G>T (p.Gly264Ter)
NM_176824.3(BBS7):c.849+1G>A
NM_176824.3(BBS7):c.932C>G (p.Ser311Ter)
NM_176824.3(BBS7):c.97C>T (p.Gln33Ter)
NM_198428.3(BBS9):c.1022T>A (p.Leu341Ter)
NM_198428.3(BBS9):c.118del (p.Lys39_Ile40insTer)
NM_198428.3(BBS9):c.1193C>G (p.Ser398Ter)
NM_198428.3(BBS9):c.1275+1G>A
NM_198428.3(BBS9):c.1432+2T>G
NM_198428.3(BBS9):c.1694-2A>G
NM_198428.3(BBS9):c.1759C>T (p.Arg587Ter) rs746797123
NM_198428.3(BBS9):c.1760_1764del (p.Arg587fs)
NM_198428.3(BBS9):c.1812del (p.Glu604fs) rs1229015450
NM_198428.3(BBS9):c.1869T>G (p.Tyr623Ter)
NM_198428.3(BBS9):c.1927C>T (p.Gln643Ter)
NM_198428.3(BBS9):c.1960G>T (p.Glu654Ter)
NM_198428.3(BBS9):c.1963-1G>T
NM_198428.3(BBS9):c.196G>T (p.Glu66Ter)
NM_198428.3(BBS9):c.2116-2A>T
NM_198428.3(BBS9):c.2299-2A>C
NM_198428.3(BBS9):c.2412_2415dup (p.Ser806fs)
NM_198428.3(BBS9):c.360del (p.Gln120fs)
NM_198428.3(BBS9):c.434del (p.Gly145fs)
NM_198428.3(BBS9):c.496C>T (p.Gln166Ter)
NM_198428.3(BBS9):c.793G>T (p.Glu265Ter)
NM_198428.3(BBS9):c.966G>A (p.Trp322Ter)
NM_198428.3(BBS9):c.998_999insTT (p.Val333_Arg334insTer)

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