ClinVar Miner

List of variants reported as likely pathogenic for ciliopathy by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_033028.5(BBS4):c.1440dup (p.Leu481fs) rs780269741 0.00006
NM_001378454.1(ALMS1):c.355C>T (p.Gln119Ter) rs751804613 0.00004
NM_017777.4(MKS1):c.190+2T>C rs375170572 0.00004
NM_001378454.1(ALMS1):c.11669-2A>G rs952110960 0.00003
NM_033028.5(BBS4):c.712-1G>A rs377031435 0.00003
NM_024649.5(BBS1):c.1110+329C>T rs571170303 0.00002
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys) rs575957641 0.00002
NM_001278293.3(ARL6):c.362G>A (p.Arg121His) rs765715798 0.00001
NM_001369.3(DNAH5):c.1730G>C (p.Arg577Thr) rs397515541 0.00001
NM_001384732.1(CPLANE1):c.4034A>G (p.Gln1345Arg) rs869312898 0.00001
NM_017777.4(MKS1):c.515+1G>A rs201933838 0.00001
NM_020800.3(IFT80):c.401C>G (p.Ser134Ter) rs1241223548 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_024685.4(BBS10):c.1184dup (p.His395fs) rs786204573 0.00001
NM_025114.4(CEP290):c.2414T>C (p.Leu805Pro) rs762633090 0.00001
NM_025114.4(CEP290):c.5012+2T>C rs1369768287 0.00001
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter) rs567573386 0.00001
NM_033028.5(BBS4):c.1A>G (p.Met1Val) rs773109542 0.00001
NM_152384.3(BBS5):c.413G>A (p.Arg138His) rs179363897 0.00001
NM_153717.3(EVC):c.1777-1G>A rs1262933856 0.00001
NC_000001.10:g.(243507634_243542022)_(243542166_243579003)del
NC_000001.10:g.(243542166_243579003)_(243579132_243581269)del
NC_000002.11:g.(73786270_73799388)_(73800552_73826527)del
NC_000003.11:g.(97483822_97485475)_(97487075_97499002)del
NC_000003.11:g.(97487075_97499002)_(97499065_97499458)dup
NC_000007.13:g.(33376235_33380508)_(33380586_33384192)del
NC_000007.13:g.(33427757_33545074)_(33573789_33644476)del
NC_000008.10:g.(94807736_94808128)_(94809699_94811845)del
NC_000015.9:g.(90193173_90195833)_(90198683_?)del
NM_001256715.2(DNAAF3):c.548_558dup (p.Ser187delinsArgSerProTer) rs2147297973
NM_001372.4(DNAH9):c.4918C>T (p.Arg1640Ter)
NM_001377.3(DYNC2H1):c.2702+1G>A rs864622358
NM_001377.3(DYNC2H1):c.8310T>G (p.Tyr2770Ter) rs1437320571
NM_001378454.1(ALMS1):c.11547+3A>T rs1271250182
NM_001378454.1(ALMS1):c.11632C>T (p.Gln3878Ter) rs1675625092
NM_001378454.1(ALMS1):c.1941del (p.Val648fs) rs1671852270
NM_001378454.1(ALMS1):c.1966G>T (p.Glu656Ter) rs773971557
NM_001378454.1(ALMS1):c.281del (p.Pro94fs) rs2104060044
NM_001378454.1(ALMS1):c.3572del (p.Phe1191fs) rs1558648759
NM_001378454.1(ALMS1):c.3718_3721del (p.Ser1240fs) rs868776324
NM_001378454.1(ALMS1):c.4321C>T (p.Gln1441Ter)
NM_001378454.1(ALMS1):c.4347dup (p.Glu1450Ter) rs778728424
NM_001378454.1(ALMS1):c.4390C>T (p.Gln1464Ter) rs904289501
NM_001378454.1(ALMS1):c.5002del (p.Arg1668fs) rs1572936092
NM_001378454.1(ALMS1):c.5274del (p.Tyr1759fs) rs2103785778
NM_001378454.1(ALMS1):c.7450A>T (p.Lys2484Ter) rs2103794046
NM_001378454.1(ALMS1):c.8374del (p.Arg2792fs)
NM_001378454.1(ALMS1):c.9151_9152del (p.Cys3052fs) rs1553409851
NM_001378454.1(ALMS1):c.9782-1269_9859del
NM_001378454.1(ALMS1):c.9782-1271_9845del
NM_001378454.1(ALMS1):c.9919_9923del (p.Ala3307fs)
NM_006346.4(PIBF1):c.1731-1G>A
NM_006642.5(SDCCAG8):c.1356+1G>C rs2147782314
NM_006642.5(SDCCAG8):c.1748del (p.Asn583fs)
NM_006642.5(SDCCAG8):c.567G>A (p.Trp189Ter) rs797045948
NM_006642.5(SDCCAG8):c.865_872dup (p.Val292fs)
NM_014804.3(KIAA0753):c.1481del (p.Lys494fs) rs766831438
NM_014956.5(CEP164):c.3437del (p.Gln1146fs)
NM_015202.5(KATNIP):c.922C>T (p.Gln308Ter) rs145247651
NM_017777.4(MKS1):c.829G>T (p.Glu277Ter) rs1555599412
NM_017777.4(MKS1):c.868_871del (p.Arg290fs)
NM_023036.6(DNAI2):c.987+1G>A
NM_024649.5(BBS1):c.1131_1135del (p.Cys377fs) rs786204701
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del) rs863224782
NM_024649.5(BBS1):c.913G>A (p.Gly305Ser)
NM_024685.4(BBS10):c.1184A>G (p.His395Arg) rs1368733646
NM_024685.4(BBS10):c.1189A>G (p.Ile397Val)
NM_024685.4(BBS10):c.1767C>A (p.Tyr589Ter) rs1565809409
NM_024685.4(BBS10):c.179T>G (p.Leu60Ter) rs2136091512
NM_024685.4(BBS10):c.197+1G>T rs886042729
NM_024685.4(BBS10):c.235dup (p.Thr79fs) rs760693838
NM_024685.4(BBS10):c.310_311del (p.Glu104fs) rs2136091244
NM_024685.4(BBS10):c.473C>A (p.Ser158Ter) rs553291328
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter) rs863224522
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter) rs1555220625
NM_025114.4(CEP290):c.3012del (p.Glu1005fs) rs1555213204
NM_031885.5(BBS2):c.1166_1169del (p.Val389fs) rs1964269329
NM_031885.5(BBS2):c.1206dup (p.Arg403fs) rs1964267396
NM_031885.5(BBS2):c.1371del (p.Lys458fs) rs2144143132
NM_031885.5(BBS2):c.1770del (p.Phe590fs) rs193922711
NM_031885.5(BBS2):c.1909_1910del (p.Met637fs) rs1555521379
NM_031885.5(BBS2):c.402del (p.Ala136fs) rs1368647604
NM_031885.5(BBS2):c.627_628del (p.Cys210fs) rs773417074
NM_033028.5(BBS4):c.1248+2T>C rs2151055229
NM_052844.4(DYNC2I2):c.1312_1313del (p.Leu438fs) rs753802842
NM_144596.4(TTC8):c.559C>T (p.Gln187Ter) rs376035653
NM_152384.3(BBS5):c.82G>T (p.Glu28Ter)
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_152618.3(BBS12):c.265_266del (p.Leu89fs) rs1397714772
NM_170784.3(MKKS):c.515_516del (p.Glu172fs) rs2064904675
NM_198428.3(BBS9):c.1277_1280del rs2128646927
NM_198428.3(BBS9):c.703-1G>C

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