ClinVar Miner

List of variants reported as pathogenic for Griscelli syndrome type 2 by Genetic Services Laboratory, University of Chicago

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter)	rs200956636	0.00006
NM_183235.3(RAB27A):c.2T>C (p.Met1Thr)	rs141281020

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