ClinVar Miner

List of variants reported as pathogenic for Griscelli syndrome type 2 by OMIM

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Total variants: 15
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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.598C>T (p.Arg200Ter) rs757849893 0.00001
NC_000015.9:g.55514530_55552423dup
NG_009103.1:g.(13486_?)_(?_81610)del
NM_183235.3(RAB27A):c.136T>A (p.Phe46Ile) rs2140989874
NM_183235.3(RAB27A):c.217T>G (p.Trp73Gly) rs28938176
NM_183235.3(RAB27A):c.239+3A>G rs1595695268
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro) rs104894497
NM_183235.3(RAB27A):c.352C>T (p.Gln118Ter) rs104894500
NM_183235.3(RAB27A):c.389T>C (p.Leu130Pro) rs104894498
NM_183235.3(RAB27A):c.400A>G (p.Lys134Glu) rs2140958637
NM_183235.3(RAB27A):c.454G>C (p.Ala152Pro) rs104894499
NM_183235.3(RAB27A):c.467+1G>C rs756071120
NM_183235.3(RAB27A):c.467+5G>A rs2140958268
NM_183235.3(RAB27A):c.53_54del (p.Ser18fs) rs1595700039

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