ClinVar Miner

List of variants reported as pathogenic for Griscelli syndrome type 2

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Total variants: 46
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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.227C>T (p.Ala76Val) rs766632505 0.00002
NM_183235.3(RAB27A):c.239+1G>T rs761810607 0.00002
NM_183235.3(RAB27A):c.239G>C (p.Arg80Thr) rs765369750 0.00002
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.400_401del (p.Lys134fs) rs755338751 0.00001
NM_183235.3(RAB27A):c.598C>T (p.Arg200Ter) rs757849893 0.00001
NC_000015.10:g.(?_55223869)_(55224032_?)del
NC_000015.10:g.(?_55223869)_(55234954_?)del
NC_000015.10:g.(?_55228589)_(55234954_?)del
NC_000015.10:g.(?_55234762)_(55234954_?)del
NC_000015.10:g.55224013del
NC_000015.9:g.(?_55497685)_(55527152_?)del
NC_000015.9:g.(?_55520787)_(55522704_?)del
NC_000015.9:g.(?_55522579)_(55522704_?)del
NC_000015.9:g.(?_55526960)_(55613608_?)del
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.137T>G (p.Phe46Cys) rs1896185846
NM_183235.3(RAB27A):c.147_148del (p.Arg50fs)
NM_183235.3(RAB27A):c.148del (p.Arg50fs)
NM_183235.3(RAB27A):c.18_19del (p.Tyr6_Asp7delinsTer) rs1555394745
NM_183235.3(RAB27A):c.217T>G (p.Trp73Gly) rs28938176
NM_183235.3(RAB27A):c.239+3A>G rs1595695268
NM_183235.3(RAB27A):c.240-2A>C
NM_183235.3(RAB27A):c.251dup (p.Leu84fs) rs1895911610
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro) rs104894497
NM_183235.3(RAB27A):c.2T>C (p.Met1Thr) rs141281020
NM_183235.3(RAB27A):c.335del (p.Asn112fs) rs756644243
NM_183235.3(RAB27A):c.352C>T (p.Gln118Ter) rs104894500
NM_183235.3(RAB27A):c.377del (p.Pro126fs) rs1895696380
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.423_424del (p.Arg141fs) rs766575263
NM_183235.3(RAB27A):c.439G>T (p.Glu147Ter) rs75258234
NM_183235.3(RAB27A):c.454G>C (p.Ala152Pro) rs104894499
NM_183235.3(RAB27A):c.460A>T (p.Lys154Ter) rs2140958324
NM_183235.3(RAB27A):c.465T>A (p.Tyr155Ter)
NM_183235.3(RAB27A):c.467+1G>C rs756071120
NM_183235.3(RAB27A):c.467+3_467+6del
NM_183235.3(RAB27A):c.467+5G>A rs2140958268
NM_183235.3(RAB27A):c.514_518del (p.Gln172fs) rs767481076
NM_183235.3(RAB27A):c.53_54del (p.Ser18fs) rs1595700039
NM_183235.3(RAB27A):c.638_642del (p.Glu213fs)

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