List of variants reported as uncertain significance for Tyrosinase-positive oculocutaneous albinism; Skin/hair/eye pigmentation, variation in, 2; Increased analgesia from kappa-opioid receptor agonist, female-specific; Melanoma, cutaneous malignant, susceptibility to, 5 by Fulgent Genetics, Fulgent Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002386.4(MC1R):c.112G>A (p.Val38Met)	rs200050206	0.00040
NM_002386.4(MC1R):c.332C>T (p.Ala111Val)	rs201489928	0.00021
NM_002386.4(MC1R):c.577G>A (p.Val193Met)	rs527673999	0.00011
NM_002386.4(MC1R):c.803C>G (p.Pro268Arg)	rs527697723	0.00010
NM_002386.4(MC1R):c.766C>T (p.Pro256Ser)	rs200215218	0.00008
NM_002386.4(MC1R):c.104G>A (p.Cys35Tyr)	rs779504604	0.00003
NM_002386.4(MC1R):c.583T>G (p.Phe195Val)	rs377580634	0.00002
NM_002386.4(MC1R):c.313G>A (p.Ala105Thr)	rs1376244060	0.00001
NM_002386.4(MC1R):c.265G>C (p.Gly89Arg)	rs34540312

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.