List of variants reported as likely pathogenic for ciliopathy by Illumina Laboratory Services, Illumina

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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_017777.4(MKS1):c.417G>A (p.Glu139=)	rs386834048	0.00014
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg)	rs201188361	0.00008
NM_023036.6(DNAI2):c.1304G>A (p.Trp435Ter)	rs752924362	0.00008
NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile)	rs753614861	0.00006
NM_012144.4(DNAI1):c.1644G>A (p.Trp548Ter)	rs200669099	0.00006
NM_147127.5(EVC2):c.3659+2T>C	rs200300612	0.00003
NM_000549.5(TSHB):c.205C>T (p.Gln69Ter)	rs121918670	0.00002
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)	rs587783013	0.00001
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter)	rs778090540	0.00001
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter)	rs752202089	0.00001
NM_001277115.2(DNAH11):c.12933+1G>A	rs371022970
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter)	rs775696136
NM_017950.4(CCDC40):c.2712-1G>T	rs370706991
NM_181426.2(CCDC39):c.830_831del (p.Thr277fs)	rs773801386

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.