List of variants in gene CASR reported as benign by Ambry Genetics

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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser)	rs1801725	0.10682
NM_000388.4(CASR):c.2968A>G (p.Arg990Gly)	rs1042636	0.08688
NM_000388.4(CASR):c.1333A>G (p.Thr445Ala)	rs12493789	0.01436
NM_000388.4(CASR):c.2610G>A (p.Glu870=)	rs143738711	0.01002
NM_000388.4(CASR):c.1775A>G (p.Asn592Ser)	rs117375173	0.00128
NM_000388.4(CASR):c.6A>C (p.Ala2=)	rs112042188	0.00098
NM_000388.4(CASR):c.1285C>T (p.His429Tyr)	rs142818334	0.00073
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser)	rs142704083	0.00061
NM_000388.4(CASR):c.2824G>A (p.Glu942Lys)	rs76327999	0.00034
NM_000388.4(CASR):c.573G>A (p.Glu191=)	rs141631116	0.00016
NM_000388.4(CASR):c.757C>A (p.Gln253Lys)	rs202179597	0.00015
NM_000388.4(CASR):c.1297G>C (p.Asp433His)	rs199511990	0.00001
NM_000388.4(CASR):c.78C>G (p.Ala26=)	rs77852524

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.