List of variants reported as pathogenic for Griscelli syndrome type 2 by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys)	rs753966933	0.00002
NM_183235.3(RAB27A):c.149del (p.Arg50fs)	rs770601673	0.00001
NM_183235.3(RAB27A):c.148del (p.Arg50fs)
NM_183235.3(RAB27A):c.467+3_467+6del

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