ClinVar Miner

List of variants reported as likely benign for Griscelli syndrome type 2 by Illumina Laboratory Services, Illumina

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_183235.3(RAB27A):c.*2160A>G rs62020099 0.00739
NM_183235.3(RAB27A):c.*132G>A rs77014779 0.00511
NM_183235.3(RAB27A):c.-142-86A>T rs191174694 0.00165
NM_183235.3(RAB27A):c.*2216A>G rs150526064 0.00158
NM_183235.3(RAB27A):c.*725C>T rs116903039 0.00054
NM_183235.3(RAB27A):c.560G>A (p.Arg187Gln) rs182849552 0.00022
NM_183235.3(RAB27A):c.*668A>G rs118003408 0.00016
NM_183235.3(RAB27A):c.*1493T>A rs149948399
NM_183235.3(RAB27A):c.-142-65C>G rs150033129
NM_183235.3(RAB27A):c.167G>A (p.Ser56Asn) rs540520068

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