ClinVar Miner

List of variants reported as benign for ciliopathy by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_001384732.1(CPLANE1):c.81+20= rs6876576 0.99994
NM_014714.4(IFT140):c.3270+19T>C rs2745176 0.96626
NM_001199397.3(NEK1):c.2765-20G>A rs7680152 0.79844
NM_176824.3(BBS7):c.1891-12C>A rs2706793 0.79185
NM_030578.4(B9D2):c.33A>G (p.Ile11Met) rs2241714 0.71244
NM_018139.3(DNAAF2):c.1185G>C (p.Ala395=) rs2985686 0.70412
NM_024649.5(BBS1):c.*7A>G rs8432 0.66464
NM_018139.3(DNAAF2):c.186G>C (p.Glu62Asp) rs2985684 0.65918
NM_018139.3(DNAAF2):c.498C>T (p.Ala166=) rs2985685 0.65889
NM_018139.3(DNAAF2):c.1482A>G (p.Thr494=) rs2985687 0.65543
NM_015910.7(WDPCP):c.1915+13G>A rs992214 0.63738
NM_024809.5(TCTN2):c.1128T>C (p.Pro376=) rs7966867 0.54127
NM_012472.6(DNAAF11):c.695C>T (p.Thr232Ile) rs2293979 0.51887
NM_178452.6(DNAAF1):c.1794C>G (p.Leu598=) rs2288019 0.51121
NM_024809.5(TCTN2):c.1099+19T>C rs7137946 0.50815
NM_014714.4(IFT140):c.-17G>C rs1894649 0.44364
NM_014714.4(IFT140):c.1968T>C (p.Ser656=) rs8048410 0.42981
NM_024809.5(TCTN2):c.891+7G>A rs7313032 0.42667
NM_152618.3(BBS12):c.1157G>A (p.Arg386Gln) rs309370 0.42071
NM_018139.3(DNAAF2):c.2303A>G (p.Asp768Gly) rs9989177 0.40859
NM_176824.3(BBS7):c.1890+16G>A rs1507994 0.40768
NM_001256715.2(DNAAF3):c.1239-8A>G rs28377509 0.36480
NM_024809.5(TCTN2):c.1393+7C>T rs7298440 0.36136
NM_001256715.2(DNAAF3):c.1056G>A (p.Pro352=) rs891187 0.29351
NM_001256715.2(DNAAF3):c.666T>C (p.Ala222=) rs7260320 0.27290
NM_001256715.2(DNAAF3):c.875A>G (p.Glu292Gly) rs2365725 0.24847
NM_001256715.2(DNAAF3):c.790-14C>T rs7260371 0.24759
NM_024649.5(BBS1):c.724-8G>C rs10896125 0.24158
NM_024649.5(BBS1):c.378G>A (p.Leu126=) rs2298806 0.21158
NM_031885.5(BBS2):c.367A>G (p.Ile123Val) rs11373 0.20545
NM_014714.4(IFT140):c.2919C>T (p.Ala973=) rs2235640 0.19119
NM_152618.3(BBS12):c.1410C>T (p.Cys470=) rs13135445 0.19015
NM_014714.4(IFT140):c.635-12G>C rs12447357 0.18304
NM_001384732.1(CPLANE1):c.6098T>G (p.Phe2033Cys) rs10076911 0.17594
NM_198428.3(BBS9):c.1363G>A (p.Ala455Thr) rs11773504 0.17589
NM_152618.3(BBS12):c.1380G>C (p.Val460=) rs13135766 0.16051
NM_152618.3(BBS12):c.1399G>A (p.Asp467Asn) rs13135778 0.15902
NM_152618.3(BBS12):c.1872A>G (p.Gln624=) rs13102440 0.15807
NM_001384732.1(CPLANE1):c.5901-3T>C rs10805625 0.15103
NM_001384732.1(CPLANE1):c.5381C>T (p.Pro1794Leu) rs75589774 0.10422
NM_001199397.3(NEK1):c.2255A>G (p.Glu752Gly) rs34099167 0.09622
NM_001199397.3(NEK1):c.3033G>A (p.Pro1011=) rs7655924 0.09091
NM_001174150.2(ARL13B):c.1043C>G (p.Thr348Ser) rs33944211 0.07857
NM_178452.6(DNAAF1):c.1296G>C (p.Glu432Asp) rs9972733 0.07717
NM_001199397.3(NEK1):c.607-3T>C rs55679731 0.07330
NM_001199397.3(NEK1):c.1146T>C (p.Ile382=) rs56064008 0.06017
NM_001199397.3(NEK1):c.1830A>G (p.Glu610=) rs17544885 0.05849
NM_014714.4(IFT140):c.3209C>T (p.Ala1070Val) rs2235638 0.05119
NM_001199397.3(NEK1):c.1388C>T (p.Ala463Val) rs34540355 0.03694
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr) rs7665271 0.03441
NM_031885.5(BBS2):c.1659+3A>G rs6499838 0.03415
NM_152618.3(BBS12):c.1209G>A (p.Val403=) rs17006092 0.03229
NM_152618.3(BBS12):c.1062G>C (p.Val354=) rs34296401 0.03153
NM_152618.3(BBS12):c.1847G>A (p.Ser616Asn) rs28507107 0.02805
NM_152618.3(BBS12):c.1381A>C (p.Asn461His) rs10027479 0.02523
NM_031885.5(BBS2):c.1511C>T (p.Ala504Val) rs16957538 0.02076
NM_016464.5(TMEM138):c.261G>A (p.Val87=) rs35245221 0.01861
NM_031885.5(BBS2):c.612+12C>A rs77019529 0.01713
NM_198428.3(BBS9):c.2299-20A>C rs17727583 0.01007
NM_198428.3(BBS9):c.1562G>A (p.Arg521Gln) rs34218557 0.00872
NM_176824.3(BBS7):c.186C>T (p.Pro62=) rs35194418 0.00662
NM_001384732.1(CPLANE1):c.8286C>T (p.Asp2762=) rs114126795 0.00589
NM_152618.3(BBS12):c.1451G>A (p.Arg484Lys) rs35690634 0.00435
NM_198428.3(BBS9):c.1246G>A (p.Val416Met) rs61764067 0.00375
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val) rs116483694 0.00287
NM_001384732.1(CPLANE1):c.1736C>T (p.Ala579Val) rs191239995 0.00036
NM_001199397.3(NEK1):c.1081-8dup rs398124255
NM_014714.4(IFT140):c.836G>C (p.Arg279Pro) rs4786350

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