List of variants reported as pathogenic for disorder of melanin metabolism by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)	rs121918166	0.00350
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)	rs61754388	0.00051
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu)	rs121918167	0.00023
NM_000372.5(TYR):c.242C>T (p.Pro81Leu)	rs28940876	0.00018
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser)	rs104894317	0.00011
NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr)	rs142988897	0.00006
NM_032383.5(HPS3):c.1163+1G>A	rs201227603	0.00005
NM_000372.5(TYR):c.832C>T (p.Arg278Ter)	rs62645904	0.00004
NM_183235.3(RAB27A):c.149del (p.Arg50fs)	rs770601673	0.00001
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs)	rs281865163
NM_000195.5(HPS1):c.972dup (p.Met325fs)	rs281865082
NM_000550.3(TYRP1):c.1057_1060del (p.Asn353fs)	rs387906562

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