List of variants in gene MC1R studied for not specified

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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002386.4(MC1R):c.942A>G (p.Thr314=)	rs2228478	0.20949
NM_002386.4(MC1R):c.488G>A (p.Arg163Gln)	rs885479	0.08396
NM_002386.4(MC1R):c.178G>T (p.Val60Leu)	rs1805005	0.08197
NM_002386.4(MC1R):c.274G>A (p.Val92Met)	rs2228479	0.06520
NM_002386.4(MC1R):c.478C>T (p.Arg160Trp)	rs1805008	0.04851
NM_002386.4(MC1R):c.451C>T (p.Arg151Cys)	rs1805007	0.04832
NM_002386.4(MC1R):c.*12G>A	rs3212368	0.04681
NM_002386.4(MC1R):c.900C>T (p.Phe300=)	rs3212367	0.01887
NM_002386.4(MC1R):c.464T>C (p.Ile155Thr)	rs1110400	0.00675
NM_002386.4(MC1R):c.466G>C (p.Val156Leu)	rs3212365	0.00443
NM_002386.4(MC1R):c.792C>T (p.Ile264=)	rs181269865	0.00205
NM_002386.4(MC1R):c.359T>C (p.Ile120Thr)	rs33932559	0.00103
NM_002386.4(MC1R):c.284C>T (p.Thr95Met)	rs34158934	0.00056
NM_002386.4(MC1R):c.795C>G (p.Val265=)	rs367998996

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.