List of variants reported as likely pathogenic for disorder of melanin metabolism by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly)	rs200764804	0.00010
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu)	rs780296175	0.00003
NM_016180.5(SLC45A2):c.305G>A (p.Arg102Gln)	rs752370234	0.00003
NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr)	rs776814755	0.00001
NM_000275.3(OCA2):c.1648G>A (p.Glu550Lys)	rs2140706418
NM_016180.5(SLC45A2):c.385+1G>A

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