List of variants reported as benign for Chudley-McCullough syndrome

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: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001377458.1(CLCC1):c.*2396C>T	rs1051868	0.36942
NM_013296.5(GPSM2):c.1815+22G>A	rs705268	0.33412
NM_001377458.1(CLCC1):c.*2152G>A	rs10607	0.26833
NM_001377458.1(CLCC1):c.*2356A>G	rs12030	0.20894
NM_013296.5(GPSM2):c.380G>A (p.Arg127Gln)	rs41279678	0.09671
NM_013296.5(GPSM2):c.828A>G (p.Lys276=)	rs338489	0.02763
NM_013296.5(GPSM2):c.1066G>A (p.Gly356Arg)	rs61754640
NM_013296.5(GPSM2):c.1569TTC[1] (p.Ser525del)	rs35029887

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.