List of variants in gene MKS1 reported by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_017777.4(MKS1):c.417G>A (p.Glu139=)	rs386834048	0.00014
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln)	rs199910690	0.00011
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp)	rs137853105	0.00003
NM_017777.4(MKS1):c.1024+1G>A	rs199874059	0.00002
NM_017777.4(MKS1):c.1112_1114del (p.Phe371del)	rs587777804
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)	rs754279998
NM_017777.4(MKS1):c.1382A>G (p.Tyr461Cys)	rs730882120
NM_017777.4(MKS1):c.1408-34_1408-6del	rs386834043
NM_017777.4(MKS1):c.1491-2A>G	rs886038203
NM_017777.4(MKS1):c.1588+1G>T	rs886038204

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.