ClinVar Miner

List of variants in gene MC1R reported by University of Washington Center for Mendelian Genomics, University of Washington

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_002386.4(MC1R):c.880G>C (p.Asp294His) rs1805009 0.01121
NM_002386.4(MC1R):c.512C>G (p.Ala171Gly) rs373224783 0.00019
NM_002386.4(MC1R):c.515G>T (p.Ser172Ile) rs376670171 0.00011
NM_002386.4(MC1R):c.265G>C (p.Gly89Arg) rs34540312
NM_002386.4(MC1R):c.517GTC[1] (p.Val174del) rs747777879
NM_002386.4(MC1R):c.894C>G (p.Tyr298Ter) rs143395134

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