List of variants in gene MC1R reported as uncertain significance for oculocutaneous albinism type 2

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

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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.917G>A (p.Arg306His)	rs368507952	0.00016
NM_002386.4(MC1R):c.515G>T (p.Ser172Ile)	rs376670171	0.00011
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

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