List of variants reported as pathogenic for disorder of melanin metabolism by Genetics and Molecular Pathology, SA Pathology

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)	rs61754388	0.00051
NM_000195.5(HPS1):c.1857+2T>C	rs374689398	0.00002

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