List of variants reported as pathogenic for disorder of melanin metabolism by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)	rs104894313	0.00375
NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr)	rs142988897	0.00006
NM_000275.3(OCA2):c.1349C>T (p.Thr450Met)	rs772019064	0.00003
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys)	rs753966933	0.00002
NM_183235.3(RAB27A):c.149del (p.Arg50fs)	rs770601673	0.00001
NM_000195.5(HPS1):c.1395G>A (p.Trp465Ter)	rs786205464
NM_000195.5(HPS1):c.972dup (p.Met325fs)	rs281865082
NM_000372.5(TYR):c.1322del (p.Ser441fs)
NM_024101.7(MLPH):c.987del (p.Lys330fs)	rs786205641
NM_181507.2(HPS5):c.2979_2982del (p.Cys993fs)	rs886041723
NM_183235.3(RAB27A):c.148del (p.Arg50fs)
NM_183235.3(RAB27A):c.467+3_467+6del
NM_201280.3(BLOC1S5):c.2T>G (p.Met1Arg)

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