List of variants in gene MKS1 reported as benign for Joubert syndrome 1

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

Total variants: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_017777.4(MKS1):c.858+9A>G	rs3826300	0.53797
NM_017777.4(MKS1):c.1671G>C (p.Leu557=)	rs11548967	0.06374
NM_017777.4(MKS1):c.1273+11G>A	rs16942826	0.01295
NM_017777.4(MKS1):c.1436G>A (p.Arg479His)	rs111315726	0.00476
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu)	rs142813109	0.00303
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln)	rs201619500	0.00235
NM_017777.4(MKS1):c.261+7C>T	rs200156751	0.00117
NM_017777.4(MKS1):c.749+13A>G	rs199550514	0.00072
NM_017777.4(MKS1):c.1024+13C>G	rs374632643	0.00065
NM_017777.4(MKS1):c.1498A>G (p.Met500Val)	rs144635826	0.00054
NM_017777.4(MKS1):c.515+12C>T	rs372527189	0.00036
NM_017777.4(MKS1):c.1014G>A (p.Leu338=)	rs201998680	0.00004
NM_017777.4(MKS1):c.1096-5del	rs2143753890
NM_017777.4(MKS1):c.1588+10del
NM_017777.4(MKS1):c.645-13del
NM_017777.4(MKS1):c.915+19_915+21del	rs3217067

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.