ClinVar Miner

List of variants reported as uncertain significance for Griscelli syndrome type 2 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_183235.3(RAB27A):c.424G>C (p.Val142Leu)	rs538323738	0.00006
NM_183235.3(RAB27A):c.340A>G (p.Ile114Val)	rs1218762595	0.00002
NM_183235.3(RAB27A):c.240-9T>G

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