List of variants reported as likely pathogenic for disorder of melanin metabolism by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000372.5(TYR):c.1037-7T>A	rs61754381	0.00051
NM_181507.2(HPS5):c.1862+1G>A	rs778500897	0.00002
NM_000081.4(LYST):c.2374_2375del (p.Asp792fs)
NM_000081.4(LYST):c.5719A>G (p.Ile1907Val)
NM_000275.3(OCA2):c.1076G>A (p.Gly359Asp)	rs200398581
NM_000275.3(OCA2):c.1580T>G (p.Leu527Arg)	rs779850564
NM_003664.5(AP3B1):c.2354_2355del (p.Glu785fs)
NM_012388.4(BLOC1S6):c.32_34delinsA (p.Gly11fs)
NM_016180.5(SLC45A2):c.1182C>G (p.Tyr394Ter)
NM_032383.5(HPS3):c.35C>A (p.Ser12Ter)	rs1466073004
NM_183235.3(RAB27A):c.154del

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