List of variants reported as pathogenic for ciliopathy by Johns Hopkins Genomics, Johns Hopkins University

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 28

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
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_001369.3(DNAH5):c.10815del (p.Pro3606fs)	rs397515540	0.00021
NM_015896.4(ZMYND10):c.47T>G (p.Val16Gly)	rs138815960	0.00021
NM_021254.4(CFAP298):c.557_566dup (p.Gln190fs)	rs746361802	0.00021
NM_001277115.2(DNAH11):c.8698C>T (p.Arg2900Ter)	rs368260932	0.00008
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs)	rs606231259	0.00007
NM_080860.4(RSPH1):c.85G>T (p.Glu29Ter)	rs138320978	0.00006
NM_001010892.3(RSPH4A):c.116C>A (p.Ser39Ter)	rs368110732	0.00003
NM_024809.5(TCTN2):c.703del (p.Leu235fs)	rs760830696	0.00002
NM_153240.5(NPHP3):c.2563C>T (p.Gln855Ter)	rs201237799	0.00002
NM_153240.5(NPHP3):c.469del (p.Arg157fs)	rs773760404	0.00002
NM_001277115.2(DNAH11):c.3133C>T (p.Arg1045Ter)	rs377691013	0.00001
NM_152384.3(BBS5):c.265C>T (p.Arg89Ter)	rs772757329	0.00001
NM_153240.5(NPHP3):c.3619C>T (p.Arg1207Ter)	rs780020801	0.00001
NM_001128178.3(NPHP1):c.555del (p.Lys185fs)	rs766524637
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter)	rs775696136
NM_001369.3(DNAH5):c.5563dup (p.Ile1855fs)	rs752925056
NM_001369.3(DNAH5):c.9124C>T (p.Arg3042Ter)	rs760595654
NM_001378454.1(ALMS1):c.1941del (p.Val648fs)	rs1671852270
NM_006346.4(PIBF1):c.1971_1973delinsT (p.Leu657fs)	rs774671946
NM_017950.4(CCDC40):c.798del (p.Ser267fs)
NM_033124.5(CCDC65):c.877_878del (p.Ile293fs)	rs863223325
NM_130810.4(DNAAF4):c.583del (p.Lys194_Ile195insTer)	rs753649614
NM_145038.5(DRC1):c.109dup (p.Gln37fs)	rs750136163
NM_152732.5(RSPH9):c.801GAA[1] (p.Lys268del)	rs397515340
NM_181426.2(CCDC39):c.2507_2508del (p.Lys836fs)	rs781526810

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.