List of variants in gene CASR reported by Genetics and Molecular Pathology, SA Pathology

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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000388.4(CASR):c.566A>G (p.Asn189Ser)	rs762998933	0.00003
NM_000388.4(CASR):c.1630C>T (p.Arg544Ter)	rs886041637	0.00001
NM_000388.4(CASR):c.1212C>T (p.Val404=)	rs967661303
NM_000388.4(CASR):c.1786A>C (p.Thr596Pro)
NM_000388.4(CASR):c.190A>G (p.Asn64Asp)	rs2107627423
NM_000388.4(CASR):c.2054G>A (p.Gly685Asp)
NM_000388.4(CASR):c.205C>A (p.Arg69Ser)
NM_000388.4(CASR):c.2096C>T (p.Thr699Ile)	rs2107649929
NM_000388.4(CASR):c.2243C>G (p.Pro748Arg)	rs193922433
NM_000388.4(CASR):c.2516T>A (p.Ile839Asn)	rs2107650645
NM_000388.4(CASR):c.379G>A (p.Glu127Lys)	rs2074565202

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.