ClinVar Miner

List of variants in gene MC4R reported by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) rs52820871 0.00774
NM_005912.3(MC4R):c.606C>A (p.Phe202Leu) rs138281308 0.00302
NM_005912.3(MC4R):c.757G>A (p.Val253Ile) rs187152753 0.00014
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) rs79783591 0.00011
NM_005912.3(MC4R):c.972C>T (p.Gly324=) rs150448918 0.00011
NM_005912.3(MC4R):c.405A>C (p.Ala135=) rs140773238 0.00008
NM_005912.3(MC4R):c.913C>T (p.Arg305Trp) rs549442687 0.00005
NM_005912.3(MC4R):c.449C>T (p.Thr150Ile) rs766665118 0.00003
NM_005912.3(MC4R):c.750_751del (p.Ile251fs) rs13447339 0.00003
NM_005912.3(MC4R):c.181G>A (p.Glu61Lys) rs370479598 0.00001
NM_005912.3(MC4R):c.239A>G (p.Tyr80Cys) rs1368643838 0.00001
NM_005912.3(MC4R):c.827A>G (p.Tyr276Cys) rs748627503 0.00001
NM_005912.3(MC4R):c.206T>G (p.Ile69Arg) rs751160202
NM_005912.3(MC4R):c.485C>T (p.Thr162Ile) rs1555691402

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.