ClinVar Miner

List of variants in gene CASR reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP
NM_000388.4(CASR):c.1074C>T (p.Cys358=) rs886044221
NM_000388.4(CASR):c.1110G>A (p.Val370=) rs150412204
NM_000388.4(CASR):c.114T>C (p.Phe38=) rs61733590
NM_000388.4(CASR):c.1163C>G (p.Ser388Trp) rs377282860
NM_000388.4(CASR):c.1287C>T (p.His429=) rs746515147
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) rs115230894
NM_000388.4(CASR):c.2064C>T (p.Phe688=) rs150869744
NM_000388.4(CASR):c.2108T>C (p.Leu703Pro) rs886043656
NM_000388.4(CASR):c.2229C>T (p.Leu743=) rs372578790
NM_000388.4(CASR):c.2570T>C (p.Ile857Thr)
NM_000388.4(CASR):c.2901C>A (p.Ile967=) rs199594582
NM_000388.4(CASR):c.3132G>A (p.Val1044=) rs755277801
NM_000388.4(CASR):c.60C>T (p.Tyr20=) rs201564143
NM_000388.4(CASR):c.613C>T (p.Arg205Cys) rs775751453
NM_000388.4(CASR):c.854G>A (p.Arg285Gln) rs200039241
NM_000388.4(CASR):c.885C>T (p.Ala295=) rs147307274
NM_000388.4(CASR):c.888C>T (p.Ser296=)
NM_000388.4(CASR):c.992G>A (p.Arg331Gln) rs747090029

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.