List of variants reported as likely benign for Jeune syndrome by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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: 23

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001377.3(DYNC2H1):c.7319C>T (p.Thr2440Met)	rs146569005	0.00441
NM_020800.3(IFT80):c.371-10C>A	rs188321058	0.00420
NM_001377.3(DYNC2H1):c.8881G>A (p.Ala2961Thr)	rs199568537	0.00317
NM_001377.3(DYNC2H1):c.1484A>C (p.Lys495Thr)	rs202233363	0.00255
NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr)	rs138161346	0.00241
NM_001377.3(DYNC2H1):c.1953+14T>C	rs186540831	0.00180
NM_020800.3(IFT80):c.897G>A (p.Val299=)	rs145776235	0.00156
NM_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val)	rs200466720	0.00140
NM_001377.3(DYNC2H1):c.8481A>C (p.Thr2827=)	rs370627443	0.00129
NM_001377.3(DYNC2H1):c.10845G>A (p.Pro3615=)	rs187451323	0.00081
NM_001377.3(DYNC2H1):c.1135-11_1135-8del	rs551487728	0.00064
NM_001377.3(DYNC2H1):c.7708+9A>G	rs375081757	0.00063
NM_001377.3(DYNC2H1):c.33C>T (p.Leu11=)	rs373977008	0.00051
NM_001377.3(DYNC2H1):c.7540+20A>G	rs535988847	0.00043
NM_001377.3(DYNC2H1):c.2145A>G (p.Gln715=)	rs373969189	0.00024
NM_001377.3(DYNC2H1):c.4719A>G (p.Gln1573=)	rs201016942	0.00021
NM_001377.3(DYNC2H1):c.9178A>C (p.Arg3060=)	rs200515728	0.00011
NM_001377.3(DYNC2H1):c.10998A>G (p.Ala3666=)	rs758373368	0.00002
NM_001377.3(DYNC2H1):c.4127+10A>G	rs369188420	0.00002
NM_001377.3(DYNC2H1):c.8361A>C (p.Ser2787=)	rs768132660	0.00001
NM_020800.3(IFT80):c.440-12T>G	rs748442129	0.00001
NM_001377.3(DYNC2H1):c.10042+7_10042+10del	rs1483149779
NM_020800.3(IFT80):c.1326C>G (p.Leu442=)	rs886058131

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.