List of variants reported as benign for autosomal recessive disease by Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001378454.1(ALMS1):c.11054G>A (p.Ser3685Asn)	rs11896293	0.02293
NM_001378454.1(ALMS1):c.5786G>A (p.Arg1929Gln)	rs17009061	0.02260
NM_001378454.1(ALMS1):c.11266G>A (p.Gly3756Ser)	rs34927702	0.02105
NM_001378454.1(ALMS1):c.4154C>G (p.Thr1385Arg)	rs115517108	0.01785
NM_001378454.1(ALMS1):c.1144A>G (p.Thr382Ala)	rs28730849	0.01527
NM_001378454.1(ALMS1):c.6553C>T (p.Pro2185Ser)	rs77555300	0.01077
NM_001378454.1(ALMS1):c.3193T>C (p.Ser1065Pro)	rs28730852	0.00579
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser)	rs61741524	0.00422
NM_001378454.1(ALMS1):c.6007A>G (p.Ile2003Val)	rs7587103	0.00394
NM_001378454.1(ALMS1):c.3311G>A (p.Gly1104Asp)	rs201074268	0.00204

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.