ClinVar Miner

List of variants reported as uncertain significance for ciliopathy by Genome-Nilou Lab

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823 0.00577
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549 0.00194
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276 0.00187
NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys) rs140782270 0.00158
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr) rs200865108 0.00157
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929 0.00146
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr) rs142278066 0.00102
NM_025114.4(CEP290):c.341G>A (p.Arg114His) rs150296134 0.00073
NM_001369.3(DNAH5):c.1715T>G (p.Leu572Trp) rs137878131 0.00067
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His) rs201252809 0.00057
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met) rs201988582 0.00054
NM_153717.3(EVC):c.569G>T (p.Arg190Leu) rs113002470 0.00051
NM_001369.3(DNAH5):c.1198G>A (p.Val400Met) rs144575803 0.00050
NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg) rs139278612 0.00048
NM_001369.3(DNAH5):c.11476C>T (p.Leu3826Phe) rs146750552 0.00039
NM_012144.4(DNAI1):c.1948C>T (p.Arg650Cys) rs140820295 0.00034
NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly) rs192259143 0.00032
NM_152618.3(BBS12):c.1499T>C (p.Val500Ala) rs145392789 0.00022
NM_001378454.1(ALMS1):c.280C>T (p.Pro94Ser) rs775431837 0.00020
NM_025114.4(CEP290):c.1729C>T (p.Leu577=) rs201295052 0.00020
NM_001369.3(DNAH5):c.8999G>A (p.Arg3000Gln) rs137949961 0.00019
NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu) rs200817579 0.00016
NM_001369.3(DNAH5):c.4016T>G (p.Leu1339Arg) rs367816483 0.00015
NM_001378454.1(ALMS1):c.9145A>G (p.Ile3049Val) rs202228570 0.00015
NM_001369.3(DNAH5):c.4258A>G (p.Asn1420Asp) rs201841311 0.00014
NM_001378454.1(ALMS1):c.4204A>G (p.Thr1402Ala) rs199649563 0.00012
NM_001369.3(DNAH5):c.7881G>A (p.Met2627Ile) rs369279743 0.00010
NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp) rs199615803 0.00010
NM_001369.3(DNAH5):c.9919G>A (p.Ala3307Thr) rs757212818 0.00008
NM_025114.4(CEP290):c.4754A>G (p.His1585Arg) rs199826787 0.00006
NM_001369.3(DNAH5):c.12217G>A (p.Val4073Met) rs757109346 0.00004
NM_001369.3(DNAH5):c.9705C>T (p.Asn3235=) rs770064361 0.00004
NM_001378454.1(ALMS1):c.1400C>T (p.Thr467Ile) rs201990757 0.00004
NM_001378454.1(ALMS1):c.1420C>A (p.His474Asn) rs200454461 0.00004
NM_001378454.1(ALMS1):c.6076A>G (p.Lys2026Glu) rs191286546 0.00004
NM_001378454.1(ALMS1):c.7276T>G (p.Cys2426Gly) rs549778430 0.00004
NM_031885.5(BBS2):c.422A>G (p.Asn141Ser) rs144680278 0.00004
NM_152618.3(BBS12):c.68C>T (p.Ala23Val) rs200240034 0.00004
NM_001369.3(DNAH5):c.11583C>A (p.Ser3861Arg) rs576096758 0.00003
NM_001378454.1(ALMS1):c.12198G>A (p.Arg4066=) rs199603690 0.00003
NM_001378454.1(ALMS1):c.5724G>C (p.Gln1908His) rs779739318 0.00003
NM_031885.5(BBS2):c.1928G>A (p.Arg643His) rs532361142 0.00003
NM_001369.3(DNAH5):c.11465G>A (p.Arg3822Gln) rs779624238 0.00002
NM_001369.3(DNAH5):c.4480C>T (p.Arg1494Trp) rs535366955 0.00002
NM_001378454.1(ALMS1):c.10832A>G (p.Gln3611Arg) rs45452795 0.00002
NM_031885.5(BBS2):c.2144G>A (p.Arg715Gln) rs761068592 0.00002
NM_153717.3(EVC):c.2554C>G (p.His852Asp) rs574669392 0.00002
NM_001369.3(DNAH5):c.10877C>T (p.Thr3626Met) rs376067762 0.00001
NM_001369.3(DNAH5):c.3013A>T (p.Asn1005Tyr) rs770975422 0.00001
NM_001378454.1(ALMS1):c.12425A>G (p.Tyr4142Cys) rs775032572 0.00001
NM_012144.4(DNAI1):c.359G>A (p.Arg120Gln) rs375547221 0.00001
NM_017777.4(MKS1):c.1465C>T (p.Arg489Cys) rs1003579700 0.00001
NM_017777.4(MKS1):c.728C>T (p.Thr243Met) rs749668169 0.00001
NM_024685.4(BBS10):c.955G>C (p.Val319Leu) rs769233464 0.00001
NM_025114.4(CEP290):c.2423A>G (p.Tyr808Cys) rs773007151 0.00001
NM_025114.4(CEP290):c.3709C>T (p.Arg1237Cys) rs768864296 0.00001
NM_025114.4(CEP290):c.4150C>T (p.Arg1384Cys) rs794727563 0.00001
NM_025114.4(CEP290):c.6193A>G (p.Asn2065Asp) rs886043119 0.00001
NM_153717.3(EVC):c.1683C>T (p.Val561=) rs913909906 0.00001
NM_001369.3(DNAH5):c.11614A>T (p.Ile3872Phe) rs572139897
NM_001369.3(DNAH5):c.12315A>G (p.Gly4105=) rs2126519204
NM_001369.3(DNAH5):c.13364G>A (p.Gly4455Asp) rs370684795
NM_001369.3(DNAH5):c.13569C>A (p.Asp4523Glu) rs151080414
NM_001369.3(DNAH5):c.1405A>G (p.Ile469Val) rs754377047
NM_001369.3(DNAH5):c.2487T>A (p.Asp829Glu) rs2151948949
NM_001369.3(DNAH5):c.2867G>A (p.Arg956His) rs752260329
NM_001369.3(DNAH5):c.4324A>G (p.Ile1442Val) rs371141184
NM_001369.3(DNAH5):c.4704T>C (p.Arg1568=) rs1175413447
NM_001369.3(DNAH5):c.4756G>A (p.Glu1586Lys) rs2151905632
NM_001369.3(DNAH5):c.5614G>A (p.Asp1872Asn) rs2151860259
NM_001369.3(DNAH5):c.7309C>G (p.Arg2437Gly) rs201469471
NM_001369.3(DNAH5):c.7748G>T (p.Gly2583Val) rs2127006063
NM_001369.3(DNAH5):c.796C>T (p.Gln266Ter) rs748605406
NM_001369.3(DNAH5):c.8168A>T (p.Gln2723Leu) rs201935354
NM_001369.3(DNAH5):c.8324A>G (p.Gln2775Arg) rs2126900531
NM_001369.3(DNAH5):c.9230G>T (p.Arg3077Leu) rs113742238
NM_001369.3(DNAH5):c.972G>A (p.Leu324=) rs757404057
NM_001378454.1(ALMS1):c.3838G>A (p.Ala1280Thr) rs767729719
NM_012144.4(DNAI1):c.98C>T (p.Thr33Ile) rs2132057312
NM_017777.4(MKS1):c.763G>C (p.Gly255Arg) rs201237547
NM_023036.6(DNAI2):c.1040G>C (p.Arg347Pro) rs138489039
NM_024649.5(BBS1):c.1702G>A (p.Val568Met) rs754300140
NM_024649.5(BBS1):c.277C>T (p.Leu93Phe) rs2134771383
NM_025114.4(CEP290):c.6277G>A (p.Val2093Ile) rs2034578914
NM_025114.4(CEP290):c.6634G>A (p.Glu2212Lys) rs2034330893
NM_031885.5(BBS2):c.1169G>T (p.Ser390Ile) rs1169691619
NM_031885.5(BBS2):c.1973A>G (p.Tyr658Cys) rs753656568
NM_152618.3(BBS12):c.1767A>G (p.Lys589=) rs2150737724
NM_153717.3(EVC):c.1696G>A (p.Ala566Thr) rs144943762
NM_153717.3(EVC):c.1988G>C (p.Arg663Pro) rs372089496

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