ClinVar Miner

List of variants in gene MC1R studied for albinism

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_002386.3(MC1R):c.104G>A (p.Cys35Tyr) rs779504604
NM_002386.3(MC1R):c.112G>A (p.Val38Met) rs200050206
NM_002386.3(MC1R):c.265G>C (p.Gly89Arg) rs34540312
NM_002386.3(MC1R):c.332C>T (p.Ala111Val) rs201489928
NM_002386.3(MC1R):c.512C>G (p.Ala171Gly) rs373224783
NM_002386.3(MC1R):c.515G>T (p.Ser172Ile) rs376670171
NM_002386.3(MC1R):c.517_519GTC[1] (p.Val174del) rs747777879
NM_002386.3(MC1R):c.583T>G (p.Phe195Val) rs377580634
NM_002386.3(MC1R):c.766C>T (p.Pro256Ser) rs200215218
NM_002386.3(MC1R):c.880G>C (p.Asp294His) rs1805009
NM_002386.3(MC1R):c.894C>G (p.Tyr298Ter) rs143395134

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