ClinVar Miner

List of variants reported as likely pathogenic for ciliopathy by Counsyl

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 388
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HGVS dbSNP gnomAD frequency
NM_012144.4(DNAI1):c.389-1G>C rs200488444 0.00046
NM_023036.6(DNAI2):c.1723-1G>T rs201909971 0.00021
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter) rs121917777 0.00012
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro) rs138043021 0.00010
NM_001378454.1(ALMS1):c.355C>T (p.Gln119Ter) rs751804613 0.00004
NM_001378454.1(ALMS1):c.427C>T (p.Gln143Ter) rs150825781 0.00004
NM_017777.4(MKS1):c.190+2T>C rs375170572 0.00004
NM_147127.5(EVC2):c.229-2A>G rs769799880 0.00004
NM_152618.3(BBS12):c.1A>C (p.Met1Leu) rs750366365 0.00004
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444 0.00003
NM_024649.5(BBS1):c.724-1G>C rs748523268 0.00003
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter) rs147030232 0.00003
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala) rs121908179 0.00003
NM_147127.5(EVC2):c.264C>A (p.Cys88Ter) rs965707319 0.00003
NM_001173990.3(TMEM216):c.35-2A>G rs1057517528 0.00002
NM_001369.3(DNAH5):c.12617G>A (p.Trp4206Ter) rs372118787 0.00002
NM_001369.3(DNAH5):c.6763C>T (p.Arg2255Ter) rs745918507 0.00002
NM_001378454.1(ALMS1):c.11667del (p.Gly3890fs) rs1553421496 0.00002
NM_001378454.1(ALMS1):c.161T>A (p.Leu54Ter) rs755760721 0.00002
NM_017777.4(MKS1):c.1024+1G>A rs199874059 0.00002
NM_024649.5(BBS1):c.479+2T>G rs1353098253 0.00002
NM_024685.4(BBS10):c.1677del (p.Ser558_Tyr559insTer) rs1555202584 0.00002
NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter) rs762047808 0.00002
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter) rs760382778 0.00002
NM_153717.3(EVC):c.2782+1G>T rs1007534611 0.00002
NM_001173990.3(TMEM216):c.222del (p.Phe76fs) rs1057517512 0.00001
NM_001173990.3(TMEM216):c.34+2T>C rs1057517498 0.00001
NM_001378454.1(ALMS1):c.1051C>T (p.Arg351Ter) rs1275113273 0.00001
NM_001378454.1(ALMS1):c.10822C>T (p.Arg3608Ter) rs1192396248 0.00001
NM_001378454.1(ALMS1):c.11669-1G>A rs750737346 0.00001
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs) rs777476179 0.00001
NM_001378454.1(ALMS1):c.283C>T (p.Gln95Ter) rs750326619 0.00001
NM_001378454.1(ALMS1):c.3687_3688del (p.Gly1230fs) rs1296683633 0.00001
NM_001378454.1(ALMS1):c.6797T>A (p.Leu2266Ter) rs761071372 0.00001
NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter) rs989080548 0.00001
NM_001378454.1(ALMS1):c.753_754insA (p.Ala252fs) rs748892226 0.00001
NM_001378454.1(ALMS1):c.7675-2A>G rs748477695 0.00001
NM_001378454.1(ALMS1):c.9897dup (p.Ser3300fs) rs754702823 0.00001
NM_017777.4(MKS1):c.508C>T (p.Arg170Ter) rs756853299 0.00001
NM_017777.4(MKS1):c.515+1G>A rs201933838 0.00001
NM_017777.4(MKS1):c.51_55dup (p.Asp19fs) rs386834051 0.00001
NM_017777.4(MKS1):c.844C>T (p.Arg282Ter) rs797045706 0.00001
NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter) rs1014835928 0.00001
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter) rs786204444 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.952-1G>A rs1057516661 0.00001
NM_024685.4(BBS10):c.1000_1001insGA (p.Leu334Ter) rs1555202657 0.00001
NM_024685.4(BBS10):c.1184dup (p.His395fs) rs786204573 0.00001
NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser) rs786204575 0.00001
NM_024685.4(BBS10):c.198-1G>C rs1555202740 0.00001
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter) rs758732081 0.00001
NM_031885.5(BBS2):c.1814C>G (p.Ser605Ter) rs201063733 0.00001
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter) rs201196733 0.00001
NM_031885.5(BBS2):c.1946_1952del (p.Asp649fs) rs745951028 0.00001
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter) rs567573386 0.00001
NM_031885.5(BBS2):c.563del (p.Ile188fs) rs1367927635 0.00001
NM_031885.5(BBS2):c.717+1G>A rs1047075022 0.00001
NM_031885.5(BBS2):c.940+1del rs746171104 0.00001
NM_147127.5(EVC2):c.1386_1387del (p.Arg463fs) rs772840335 0.00001
NM_147127.5(EVC2):c.1655_1658del (p.Gly552fs) rs1159758018 0.00001
NM_147127.5(EVC2):c.1949_1963del (p.Phe650_Lys655delinsTer) rs1431987950 0.00001
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) rs751356206 0.00001
NM_147127.5(EVC2):c.229-1G>T rs1214848359 0.00001
NM_147127.5(EVC2):c.2484G>A (p.Trp828Ter) rs770918273 0.00001
NM_147127.5(EVC2):c.450+2T>C rs781096099 0.00001
NM_147127.5(EVC2):c.62dup (p.Ala22fs) rs1430962566 0.00001
NM_147127.5(EVC2):c.893del (p.His298fs) rs777505711 0.00001
NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter) rs1269565757 0.00001
NM_152618.3(BBS12):c.1749C>G (p.Tyr583Ter) rs1284876635 0.00001
NM_152618.3(BBS12):c.640C>T (p.Arg214Ter) rs745448288 0.00001
NM_152618.3(BBS12):c.682_683insT (p.Gln228fs) rs770872200 0.00001
NM_153717.3(EVC):c.1564-2A>G rs1553886849 0.00001
NM_153717.3(EVC):c.1777-1G>A rs1262933856 0.00001
NM_153717.3(EVC):c.1777-2A>G rs909612975 0.00001
NM_153717.3(EVC):c.2098-1G>A rs773019082 0.00001
NM_153717.3(EVC):c.2821C>T (p.Gln941Ter) rs896581899 0.00001
NM_153717.3(EVC):c.617G>A (p.Ser206Asn) rs1017946059 0.00001
NM_153717.3(EVC):c.702+1G>A rs1553867138 0.00001
NM_153717.3(EVC):c.919T>C (p.Ser307Pro) rs121908426 0.00001
NM_001173990.3(TMEM216):c.137-1G>A rs1554972547
NM_001173990.3(TMEM216):c.164_168del (p.Asn55fs) rs1554972556
NM_001173990.3(TMEM216):c.228del (p.Phe76fs) rs767384710
NM_001173990.3(TMEM216):c.228dup (p.Gly77fs) rs767384710
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) rs11230683
NM_001173990.3(TMEM216):c.316_317insTA (p.Tyr106fs) rs1554972958
NM_001173990.3(TMEM216):c.336C>A (p.Tyr112Ter) rs147267631
NM_001369.3(DNAH5):c.1427_1428del (p.Phe476fs) rs774493427
NM_001369.3(DNAH5):c.6037C>T (p.Arg2013Ter) rs1273352530
NM_001378454.1(ALMS1):c.10043del (p.Pro3348fs) rs1553416233
NM_001378454.1(ALMS1):c.10079-1G>C rs1361885101
NM_001378454.1(ALMS1):c.10131dup (p.Gln3378fs) rs1553416867
NM_001378454.1(ALMS1):c.10213+1G>A rs374681570
NM_001378454.1(ALMS1):c.10287_10288del (p.Lys3430fs) rs1553417044
NM_001378454.1(ALMS1):c.10384+1G>A rs766366221
NM_001378454.1(ALMS1):c.10535_10536insTGTCTTTCCAAGATTGGAA (p.Lys3512fs) rs1220975714
NM_001378454.1(ALMS1):c.10544_10545insCA (p.Gln3516fs) rs1553418449
NM_001378454.1(ALMS1):c.10546C>T (p.Gln3516Ter) rs375019820
NM_001378454.1(ALMS1):c.10571_10572insCACATAGAGA (p.Glu3524delinsAspThrTer) rs1553418457
NM_001378454.1(ALMS1):c.10797_10800del (p.Glu3600fs) rs1553418500
NM_001378454.1(ALMS1):c.10813dup (p.Tyr3605fs) rs1553418505
NM_001378454.1(ALMS1):c.10836dup (p.Arg3613fs) rs1553418512
NM_001378454.1(ALMS1):c.10844del (p.Pro3615fs) rs1553418513
NM_001378454.1(ALMS1):c.10G>T (p.Glu4Ter) rs1553396092
NM_001378454.1(ALMS1):c.11083del (p.Ser3695fs) rs1412574975
NM_001378454.1(ALMS1):c.11547+1G>A rs1553418638
NM_001378454.1(ALMS1):c.11616dup (p.Thr3873fs) rs1553421488
NM_001378454.1(ALMS1):c.11700del (p.Lys3900fs) rs1553421626
NM_001378454.1(ALMS1):c.11714_11717del (p.Val3905fs) rs932538480
NM_001378454.1(ALMS1):c.11809dup (p.Met3937fs) rs757722767
NM_001378454.1(ALMS1):c.11872+2T>A rs1553421657
NM_001378454.1(ALMS1):c.1192dup (p.Trp398fs) rs1553400778
NM_001378454.1(ALMS1):c.1196_1202del (p.Thr399fs) rs761292021
NM_001378454.1(ALMS1):c.12075del (p.Arg4026fs) rs1553421739
NM_001378454.1(ALMS1):c.12083_12086del (p.Leu4028fs) rs1553421741
NM_001378454.1(ALMS1):c.12104_12105del (p.Ala4035fs) rs1553421752
NM_001378454.1(ALMS1):c.12114+1G>T rs376719320
NM_001378454.1(ALMS1):c.12175_12177delinsTT (p.Lys4060fs) rs1553421886
NM_001378454.1(ALMS1):c.12299-1G>A rs1313101326
NM_001378454.1(ALMS1):c.1229_1230del (p.Tyr410fs) rs764503373
NM_001378454.1(ALMS1):c.12302_12305del (p.Phe4101fs) rs1553422035
NM_001378454.1(ALMS1):c.1237+2T>C rs916056435
NM_001378454.1(ALMS1):c.12462+1del rs750907119
NM_001378454.1(ALMS1):c.1247del (p.Gln416fs) rs1553400956
NM_001378454.1(ALMS1):c.1432+1G>T rs1553401634
NM_001378454.1(ALMS1):c.1432+2_1432+15del rs1203193062
NM_001378454.1(ALMS1):c.1557del (p.Gln519fs) rs1553403262
NM_001378454.1(ALMS1):c.1610_1611del (p.Leu537fs) rs1553403282
NM_001378454.1(ALMS1):c.188_189delinsC (p.Gln63fs) rs1553396238
NM_001378454.1(ALMS1):c.1_9del (p.Met1_Pro3del) rs1553396088
NM_001378454.1(ALMS1):c.20del (p.Pro7fs) rs1340135231
NM_001378454.1(ALMS1):c.2130_2134del (p.Val711fs) rs1553403401
NM_001378454.1(ALMS1):c.2176dup (p.Tyr726fs) rs771459937
NM_001378454.1(ALMS1):c.2221dup (p.Thr741fs) rs769291842
NM_001378454.1(ALMS1):c.2293_2296del (p.Ser765fs) rs1457500348
NM_001378454.1(ALMS1):c.2752dup (p.Ser918fs) rs1230351650
NM_001378454.1(ALMS1):c.2790dup (p.Ala931fs) rs1553403560
NM_001378454.1(ALMS1):c.284dup (p.His96fs) rs1553396293
NM_001378454.1(ALMS1):c.296C>A (p.Ser99Ter) rs1553396296
NM_001378454.1(ALMS1):c.2T>G (p.Met1Arg) rs1553396091
NM_001378454.1(ALMS1):c.3041_3042delinsT (p.Gln1014fs) rs1553403598
NM_001378454.1(ALMS1):c.325-1G>A rs764337753
NM_001378454.1(ALMS1):c.32dup (p.Leu12fs) rs1553396098
NM_001378454.1(ALMS1):c.3337del (p.Glu1113fs) rs1553403656
NM_001378454.1(ALMS1):c.3489_3498del (p.His1163fs) rs1553403685
NM_001378454.1(ALMS1):c.359_360del (p.Ile120fs) rs1553398842
NM_001378454.1(ALMS1):c.3873_3874del (p.Lys1292fs) rs1553403762
NM_001378454.1(ALMS1):c.4249del (p.Arg1417fs) rs1553403851
NM_001378454.1(ALMS1):c.4331del (p.Pro1444fs) rs1553403864
NM_001378454.1(ALMS1):c.4347dup (p.Glu1450Ter) rs778728424
NM_001378454.1(ALMS1):c.4425del (p.Ser1476fs) rs1553403882
NM_001378454.1(ALMS1):c.5010_5032del (p.Lys1670fs) rs1553403989
NM_001378454.1(ALMS1):c.5176dup (p.Leu1726fs) rs1553404020
NM_001378454.1(ALMS1):c.5196_5197del (p.Gln1733fs) rs1553404028
NM_001378454.1(ALMS1):c.5415del (p.Tyr1806fs) rs1553404066
NM_001378454.1(ALMS1):c.5462del (p.Pro1821fs) rs770264966
NM_001378454.1(ALMS1):c.5622del (p.Ala1875fs) rs1057517445
NM_001378454.1(ALMS1):c.5860del (p.Glu1954fs) rs1553404150
NM_001378454.1(ALMS1):c.5886del (p.Glu1963fs) rs1553404156
NM_001378454.1(ALMS1):c.5978_5979del (p.Lys1993fs) rs1553404180
NM_001378454.1(ALMS1):c.6483_6486del (p.Thr2162fs) rs1553404252
NM_001378454.1(ALMS1):c.6570_6573dup (p.Gly2192fs) rs1553404277
NM_001378454.1(ALMS1):c.6690del (p.Val2231fs) rs1553404305
NM_001378454.1(ALMS1):c.6772del (p.Thr2258fs) rs1553404310
NM_001378454.1(ALMS1):c.6837del (p.Pro2280fs) rs1553404337
NM_001378454.1(ALMS1):c.6898del (p.Val2300fs) rs1553404358
NM_001378454.1(ALMS1):c.6925dup (p.Thr2309fs) rs1553404368
NM_001378454.1(ALMS1):c.6957_6960del (p.Arg2319fs) rs1553404377
NM_001378454.1(ALMS1):c.695dup (p.Leu232fs) rs1553400437
NM_001378454.1(ALMS1):c.7226del (p.Thr2409fs) rs1553404423
NM_001378454.1(ALMS1):c.7237dup (p.Ser2413fs) rs1553404426
NM_001378454.1(ALMS1):c.7330_7331delinsATA (p.Leu2444fs) rs1553404457
NM_001378454.1(ALMS1):c.7373_7376del (p.Asp2458fs) rs1370417967
NM_001378454.1(ALMS1):c.7388_7392dup (p.Val2465fs) rs1553404473
NM_001378454.1(ALMS1):c.7454del (p.Asn2485fs) rs1217507627
NM_001378454.1(ALMS1):c.769del (p.Ile257fs) rs1553400675
NM_001378454.1(ALMS1):c.7827del (p.Ser2610fs) rs1553409617
NM_001378454.1(ALMS1):c.7998_8013dup (p.Phe2672fs) rs1553409656
NM_001378454.1(ALMS1):c.803_805del (p.Ser268_Arg269delinsTer) rs758952057
NM_001378454.1(ALMS1):c.8133del (p.Phe2711fs) rs1553409683
NM_001378454.1(ALMS1):c.8141_8148del (p.Ser2714fs) rs1553409686
NM_001378454.1(ALMS1):c.8152dup (p.Ser2718fs) rs1553409691
NM_001378454.1(ALMS1):c.8349_8352del (p.Lys2783_Glu2784insTer) rs1553409710
NM_001378454.1(ALMS1):c.8718dup (p.Ser2907fs) rs1553409764
NM_001378454.1(ALMS1):c.8756_8759del (p.Pro2919fs) rs1553409774
NM_001378454.1(ALMS1):c.8790dup (p.Glu2931Ter) rs1553409778
NM_001378454.1(ALMS1):c.9151_9152del (p.Cys3052fs) rs1553409851
NM_001378454.1(ALMS1):c.925_926insT (p.Gln309fs) rs1553400709
NM_001378454.1(ALMS1):c.9539+1G>T rs1553409901
NM_001378454.1(ALMS1):c.9760_9761dup (p.Phe3255fs) rs1553412797
NM_001378454.1(ALMS1):c.9815_9828del (p.Gly3272fs) rs1553414071
NM_017777.4(MKS1):c.1025-2A>C rs794727070
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_017777.4(MKS1):c.1166-2A>G rs1488635637
NM_017777.4(MKS1):c.1394del (p.Pro465fs) rs865870355
NM_017777.4(MKS1):c.1408-2A>G rs1555596943
NM_017777.4(MKS1):c.1434_1462del (p.Arg479fs) rs1555596845
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs) rs386834044
NM_017777.4(MKS1):c.184_190del (p.Thr62fs) rs386834046
NM_017777.4(MKS1):c.1A>G (p.Met1Val) rs1555601787
NM_017777.4(MKS1):c.367dup (p.Arg123fs) rs775043799
NM_017777.4(MKS1):c.515+2T>G rs1376664664
NM_017777.4(MKS1):c.80+2T>C rs386834052
NM_017777.4(MKS1):c.829G>T (p.Glu277Ter) rs1555599412
NM_017777.4(MKS1):c.858+1G>A rs756102768
NM_024649.5(BBS1):c.1072del (p.Tyr358fs) rs1057516533
NM_024649.5(BBS1):c.1131_1135del (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.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.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.47+2T>C rs1182864166
NM_024649.5(BBS1):c.48-1G>T rs751753112
NM_024649.5(BBS1):c.480-1G>C rs1057516933
NM_024649.5(BBS1):c.519-2A>G rs1057516502
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.981del (p.Ala328fs) rs1057516371
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.1187_1188del (p.Ser396fs) rs1555202636
NM_024685.4(BBS10):c.1190_1191del (p.Ile397fs) rs1057517206
NM_024685.4(BBS10):c.1236_1248del (p.Asp412fs) rs1057517156
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.1510_1511del (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.1664_1668del (p.Ile555fs) rs1057516669
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.2030del (p.Gly677fs) rs1064796315
NM_024685.4(BBS10):c.2077C>T (p.Gln693Ter) rs1555202546
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.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.568_571del (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.858_859dup (p.Gln287fs) rs1057516836
NM_024685.4(BBS10):c.909_912del (p.Ser303fs) rs780059308
NM_024685.4(BBS10):c.959_962del (p.Ser320fs) rs758522600
NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter) rs193922710
NM_031885.5(BBS2):c.1081-1G>T rs1555522000
NM_031885.5(BBS2):c.1797+1G>A rs1555521489
NM_031885.5(BBS2):c.1909_1910del (p.Met637fs) rs1555521379
NM_031885.5(BBS2):c.1911-1G>A rs1555520256
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.2060-1G>T rs1555520142
NM_031885.5(BBS2):c.224T>G (p.Val75Gly) rs121908174
NM_031885.5(BBS2):c.324_343del (p.Asn108fs) rs1555523964
NM_031885.5(BBS2):c.471+1G>A rs1555523584
NM_031885.5(BBS2):c.55del (p.Val19fs) rs1555524593
NM_031885.5(BBS2):c.627_628del (p.Cys210fs) rs773417074
NM_031885.5(BBS2):c.661del (p.Leu221fs) rs770258677
NM_031885.5(BBS2):c.717+2T>G rs1555522893
NM_031885.5(BBS2):c.918_919dup (p.Cys307fs) rs1555522252
NM_031885.5(BBS2):c.941-1G>T rs777234811
NM_031885.5(BBS2):c.941-2A>C rs878962682
NM_147127.5(EVC2):c.105_126dup (p.Gly43fs) rs1553855127
NM_147127.5(EVC2):c.1170_1171delinsC (p.Ala391fs) rs1553840713
NM_147127.5(EVC2):c.133C>T (p.Gln45Ter) rs1477102573
NM_147127.5(EVC2):c.142_151del (p.Asp49fs) rs1221185345
NM_147127.5(EVC2):c.1471-1G>C rs1553837446
NM_147127.5(EVC2):c.1711-1G>A rs1553836169
NM_147127.5(EVC2):c.1887-1G>A rs1490912913
NM_147127.5(EVC2):c.194_198dup (p.Ser67fs) rs992326794
NM_147127.5(EVC2):c.199_208del (p.Ser67fs) rs1420414097
NM_147127.5(EVC2):c.202_211dup (p.Pro71fs) rs1553855074
NM_147127.5(EVC2):c.2046+1G>C rs762947212
NM_147127.5(EVC2):c.2046+1G>T rs762947212
NM_147127.5(EVC2):c.2047-2A>G rs1553833239
NM_147127.5(EVC2):c.2707-1G>T rs749251178
NM_147127.5(EVC2):c.2830-1G>A rs1553818428
NM_147127.5(EVC2):c.3057+1G>A rs1307502841
NM_147127.5(EVC2):c.3058-2A>G rs760066386
NM_147127.5(EVC2):c.3141G>A (p.Trp1047Ter) rs886037764
NM_147127.5(EVC2):c.3360+1G>A rs1553815019
NM_147127.5(EVC2):c.3458_3476del (p.Pro1153fs) rs778793911
NM_147127.5(EVC2):c.3598C>T (p.Arg1200Ter) rs1305301849
NM_147127.5(EVC2):c.3660-2A>G rs1553811863
NM_147127.5(EVC2):c.450+1G>A rs1447633595
NM_147127.5(EVC2):c.450+1del rs1553852469
NM_147127.5(EVC2):c.451-2A>G rs1553851870
NM_147127.5(EVC2):c.50dup (p.Leu18fs) rs1553855151
NM_147127.5(EVC2):c.534dup (p.Glu179Ter) rs1553851462
NM_147127.5(EVC2):c.769G>T (p.Glu257Ter) rs1553850677
NM_147127.5(EVC2):c.816+2T>C rs1294715119
NM_147127.5(EVC2):c.817-2A>G rs1553849894
NM_147127.5(EVC2):c.871-2_894del rs755789146
NM_147127.5(EVC2):c.942G>A (p.Trp314Ter) rs763363403
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.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.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.682C>T (p.Gln228Ter) rs769588983
NM_152618.3(BBS12):c.760G>T (p.Glu254Ter) rs1553941304
NM_153717.3(EVC):c.1060G>T (p.Glu354Ter) rs779915989
NM_153717.3(EVC):c.134G>A (p.Trp45Ter) rs1553857995
NM_153717.3(EVC):c.1373del (p.Gly458fs) rs760607210
NM_153717.3(EVC):c.1465-3_1472del rs1300178432
NM_153717.3(EVC):c.1473dup (p.Glu492Ter) rs1553876813
NM_153717.3(EVC):c.1539del (p.Glu514fs) rs759106605
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter) rs764397417
NM_153717.3(EVC):c.1887-5_1904del rs779275317
NM_153717.3(EVC):c.2097+1G>T rs1553891368
NM_153717.3(EVC):c.2164C>T (p.Gln722Ter) rs1553891936
NM_153717.3(EVC):c.2176dup (p.Leu726fs) rs146475474
NM_153717.3(EVC):c.2304+2T>C rs1553892090
NM_153717.3(EVC):c.2449+1G>A rs1553893423
NM_153717.3(EVC):c.24del (p.Ala7_Cys8insTer) rs1553857828
NM_153717.3(EVC):c.2561+1G>A rs1553894457
NM_153717.3(EVC):c.2668del (p.Gln890fs) rs1553895755
NM_153717.3(EVC):c.2688+1G>C rs1553895776
NM_153717.3(EVC):c.2782+1del rs1169539647
NM_153717.3(EVC):c.301-1G>A rs1363547577
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter) rs748523193
NM_153717.3(EVC):c.698dup (p.His233fs) rs1553867117
NM_153717.3(EVC):c.703-1G>A rs1485152854
NM_153717.3(EVC):c.720del (p.Phe240fs) rs1553871764
NM_153717.3(EVC):c.752dup (p.Lys252fs) rs1553871792
NM_153717.3(EVC):c.801+2T>G rs1553871866
NM_153717.3(EVC):c.802-1G>C rs150814290
NM_153717.3(EVC):c.939+1G>C rs1553873138

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