List of variants studied for ciliopathy by GenomeConnect, ClinGen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	rs113624356	0.00212
NM_025103.4(IFT74):c.163A>T (p.Ile55Leu)	rs62542664	0.00104
NM_001329943.3(KIAA0586):c.94dup (p.His32fs)	rs555421894	0.00053
NM_001378454.1(ALMS1):c.9083G>A (p.Cys3028Tyr)	rs565501407	0.00004
NM_025114.4(CEP290):c.3708dup (p.Arg1237fs)	rs758991387	0.00002
NM_001329943.3(KIAA0586):c.2932_2944+4del	rs1278372009	0.00001
NM_024649.5(BBS1):c.416G>A (p.Trp139Ter)	rs878855095	0.00001
NM_001010892.3(RSPH4A):c.1662+2_1662+5del	rs768986129
NM_001082538.3(TCTN1):c.1494+1G>A	rs1165243207
NM_001378454.1(ALMS1):c.7740G>C (p.Glu2580Asp)	rs543921060
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs)	rs386834148
NM_153614.4(DNAJB13):c.173-1G>A	rs1565171522

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.