ClinVar Miner

List of variants studied for ciliopathy by GeneReviews

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr) rs2277598 0.52665
NM_170784.3(MKKS):c.117C>T (p.Pro39=) rs16991547 0.18435
NM_170784.3(MKKS):c.534C>T (p.Ile178=) rs17852625 0.14082
NM_033028.5(BBS4):c.1451-45T>C rs75847960 0.08550
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_016616.4(NME8):c.271-27C>T rs117149381 0.01739
NM_033028.5(BBS4):c.*1G>C rs113678046 0.01165
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_001384732.1(CPLANE1):c.8050G>A (p.Ala2684Thr) rs111294855 0.00212
NM_170784.3(MKKS):c.-74G>A rs113994194 0.00070
NM_012144.4(DNAI1):c.48+2dup rs397515363 0.00050
NM_080860.4(RSPH1):c.275-2A>C rs151107532 0.00048
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393 0.00029
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_001364171.2(ODAD1):c.853G>A (p.Ala285Thr) rs147718607 0.00022
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00021
NM_015896.4(ZMYND10):c.47T>G (p.Val16Gly) rs138815960 0.00021
NM_012472.6(DNAAF11):c.436G>C (p.Asp146His) rs200321595 0.00011
NM_003114.5(SPAG1):c.2014C>T (p.Gln672Ter) rs201740530 0.00010
NM_181426.2(CCDC39):c.357+1G>C rs397515392 0.00007
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) rs199469707 0.00006
NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter) rs139675596 0.00006
NM_080860.4(RSPH1):c.85G>T (p.Glu29Ter) rs138320978 0.00006
NM_001384732.1(CPLANE1):c.8872C>T (p.Arg2958Ter) rs141507441 0.00004
NM_023036.6(DNAI2):c.787C>T (p.Arg263Ter) rs137852998 0.00004
NM_001010892.3(RSPH4A):c.1468C>T (p.Arg490Ter) rs118204043 0.00002
NM_001010892.3(RSPH4A):c.460C>T (p.Gln154Ter) rs118204041 0.00002
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp) rs367543061 0.00002
NM_001384732.1(CPLANE1):c.4804C>T (p.Arg1602Ter) rs367543063 0.00002
NM_016616.5(NME8):c.1277T>A (p.Leu426Ter) rs121918300 0.00002
NM_178452.6(DNAAF1):c.811C>T (p.Arg271Ter) rs267607225 0.00002
NM_001010892.3(RSPH4A):c.325C>T (p.Gln109Ter) rs118204042 0.00001
NM_001195305.3(BBIP1):c.173T>G (p.Leu58Ter) rs515726134 0.00001
NM_001369.3(DNAH5):c.1730G>C (p.Arg577Thr) rs397515541 0.00001
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter) rs771663107 0.00001
NM_001384732.1(CPLANE1):c.7400+1G>A rs367543062 0.00001
NM_012472.6(DNAAF11):c.220G>C (p.Ala74Pro) rs397514596 0.00001
NM_012472.6(DNAAF11):c.598_599del (p.Lys200fs) rs397515424 0.00001
NM_015512.5(DNAH1):c.3460A>C (p.Lys1154Gln) rs544674332 0.00001
NM_020347.4(LZTFL1):c.778G>T (p.Glu260Ter) rs515726136 0.00001
NM_033028.5(BBS4):c.17T>C (p.Val6Ala) rs113994185 0.00001
NM_033028.5(BBS4):c.18C>T (p.Val6=) rs113994187 0.00001
NM_033028.5(BBS4):c.20C>T (p.Ala7Val) rs113994186 0.00001
NM_033028.5(BBS4):c.42A>G (p.Val14=) rs113994181 0.00001
NM_033028.5(BBS4):c.91A>G (p.Ile31Val) rs113994182 0.00001
NC_000008.11:g.100151617_100163589del
NM_001010892.3(RSPH4A):c.166dup (p.Arg56fs) rs797045147
NM_001010892.3(RSPH4A):c.921+3_921+6del rs869320683
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001277115.2(DNAH11):c.8533C>T (p.Arg2845Ter) rs121908854
NM_001382391.1(CSPP1):c.255_256del (p.His85fs) rs1554562278
NM_001384732.1(CPLANE1):c.6354dup (p.Ile2119fs) rs1188561908
NM_001384732.1(CPLANE1):c.6407del (p.Pro2136fs) rs367543064
NM_001394148.2(LOC128706665):c.-56_-47dup rs16996729
NM_003114.5(SPAG1):c.902_906del (p.Lys301fs) rs797045149
NM_003611.2:c.2388+1G>C
NM_003611.3(OFD1):c.2126_2129dup (p.Asn711fs) rs312262890
NM_012144.4(DNAI1):c.2001+1G>A rs397515563
NM_012472.6(DNAAF11):c.574C>T (p.Gln192Ter) rs141945265
NM_012472.6(DNAAF11):c.576dup (p.Glu193fs) rs397515425
NM_012472.6(DNAAF11):c.630del (p.Trp210fs) rs760123202
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_017802.4(DNAAF5):c.2384T>C (p.Leu795Pro) rs397514561
NM_017950.4(CCDC40):c.2824_2825insTGT (p.Arg942delinsMetTrp) rs587778819
NM_018076.5(ODAD2):c.2780T>G (p.Leu927Trp) rs587777047
NM_018139.3(DNAAF2):c.1199_1214dup (p.Gly406fs) rs397515341
NM_018139.3(DNAAF2):c.23C>A (p.Ser8Ter) rs137853191
NM_018139.3(DNAAF2):c.31del (p.Glu11fs) rs797045146
NM_020347.4(LZTFL1):c.260T>C (p.Leu87Pro) rs515726135
NM_024649.5(BBS1):c.-3_37del (p.Met1fs) rs113994178
NM_024649.5(BBS1):c.1340-2A>G rs113994180
NM_024649.5(BBS1):c.831-3C>G rs113994179
NM_031427.4(DNAL1):c.449A>G (p.Asn150Ser) rs387907021
NM_033028.5(BBS4):c.-17C>A rs56368716
NM_033028.5(BBS4):c.-6G>A rs367543011
NM_033028.5(BBS4):c.157-2A>G rs113994192
NM_033028.5(BBS4):c.220+1G>C rs113994190
NM_033028.5(BBS4):c.28dup (p.Thr10fs) rs113994184
NM_033028.5(BBS4):c.406-2A>C rs113994191
NM_033028.5(BBS4):c.77-216del rs113994189
NM_033028.5(BBS4):c.8A>C (p.Glu3Ala) rs113994183
NM_080860.4(RSPH1):c.407_410del (p.Lys136fs) rs587777059
NM_145045.5(ODAD3):c.1256C>A (p.Ser419Ter) rs587777780
NM_145045.5(ODAD3):c.925G>T (p.Glu309Ter) rs587777779
NM_170784.3(MKKS):c.431_441del (p.Phe144fs) rs113994195
NM_170784.3(MKKS):c.873_876dup (p.Cys293fs) rs113994196
NM_178452.6(DNAAF1):c.124+1536_353-2102del
NM_178452.6(DNAAF1):c.1349dup (p.Pro451fs) rs397515339
NM_178452.6(DNAAF1):c.524T>G (p.Leu175Arg) rs267607227
NM_181426.2(CCDC39):c.1072del (p.Thr358fs) rs587778822
NM_181426.2(CCDC39):c.2190del (p.Glu731fs) rs587778820
NM_181426.2(CCDC39):c.2357_2359delinsT (p.Ser786fs) rs587778821

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