List of variants in gene MC4R reported as likely pathogenic by GeneDx

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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005912.3(MC4R):c.913C>T (p.Arg305Trp)	rs549442687	0.00005
NM_005912.3(MC4R):c.896C>A (p.Pro299His)	rs52804924	0.00003
NM_005912.3(MC4R):c.181G>A (p.Glu61Lys)	rs370479598	0.00001
NM_005912.3(MC4R):c.466C>T (p.Gln156Ter)	rs369841551	0.00001
NM_005912.3(MC4R):c.233C>T (p.Pro78Leu)	rs13447326
NM_005912.3(MC4R):c.281G>A (p.Ser94Asn)	rs772213710
NM_005912.3(MC4R):c.346_347del (p.Ser116fs)	rs1226923092
NM_005912.3(MC4R):c.485C>T (p.Thr162Ile)	rs1555691402
NM_005912.3(MC4R):c.811T>C (p.Cys271Arg)	rs1057517991
NM_005912.3(MC4R):c.815C>T (p.Pro272Leu)	rs1915338291
NM_005912.3(MC4R):c.817C>T (p.Gln273Ter)	rs1555691353

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.