List of variants reported as pathogenic for disorder of melanin metabolism by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000372.5(TYR):c.1467dup (p.Ala490fs)	rs61754399	0.00014
NM_000372.5(TYR):c.1A>G (p.Met1Val)	rs28940881	0.00006
GRCh37/hg19 Xp22.2(chrX:9702717-9709328)x0
NM_000195.5(HPS1):c.972dup (p.Met325fs)	rs281865082
NM_000275.3(OCA2):c.173_176dup (p.Ser59fs)
NM_000275.3(OCA2):c.2055dup (p.Ala686fs)

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