List of variants reported as likely pathogenic for oculocutaneous albinism type 2 by Yale Center for Mendelian Genomics, Yale University

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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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