ClinVar Miner

List of variants reported as uncertain significance for Griscelli syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_183235.3(RAB27A):c.*1863C>T rs566144766 0.00405
NM_183235.3(RAB27A):c.*1878T>C rs552625680 0.00389
NM_183235.3(RAB27A):c.-93G>T rs181491869 0.00151
NM_183235.3(RAB27A):c.*370T>C rs144322660 0.00112
NM_183235.3(RAB27A):c.*2343G>C rs141632141 0.00057
NM_183235.3(RAB27A):c.*2415T>C rs749048516 0.00034
NM_183235.3(RAB27A):c.418C>G (p.Gln140Glu) rs150463407 0.00031
NM_183235.3(RAB27A):c.*1672T>C rs886051306 0.00016
NM_183235.3(RAB27A):c.559C>T (p.Arg187Trp) rs144946000 0.00016
NM_183235.3(RAB27A):c.*1473T>C rs568895039 0.00015
NM_183235.3(RAB27A):c.*429C>T rs368212830 0.00014
NM_183235.3(RAB27A):c.307A>G (p.Asn103Asp) rs144492641 0.00013
NM_183235.3(RAB27A):c.*1296T>G rs560689599 0.00010
NM_183235.3(RAB27A):c.*1842C>T rs1030465363 0.00009
NM_183235.3(RAB27A):c.-58A>G rs572723752 0.00009
NM_183235.3(RAB27A):c.543A>G (p.Ile181Met) rs139025012 0.00009
NM_183235.3(RAB27A):c.526A>T (p.Met176Leu) rs757760608 0.00008
NM_183235.3(RAB27A):c.*1485G>A rs886051308 0.00007
NM_183235.3(RAB27A):c.*1156T>G rs747438491 0.00006
NM_183235.3(RAB27A):c.*1170T>G rs574506558 0.00006
NM_183235.3(RAB27A):c.*1669A>G rs981927108 0.00006
NM_183235.3(RAB27A):c.*814G>A rs146798701 0.00006
NM_183235.3(RAB27A):c.213G>T (p.Gln71His) rs776920896 0.00006
NM_183235.3(RAB27A):c.-142-84C>T rs992388018 0.00004
NM_183235.3(RAB27A):c.168T>C (p.Ser56=) rs376232909 0.00004
NM_183235.3(RAB27A):c.*2334C>A rs886051304 0.00003
NM_183235.3(RAB27A):c.11G>T (p.Gly4Val) rs539575657 0.00003
NM_183235.3(RAB27A):c.344-10A>G rs199702031 0.00003
NM_183235.3(RAB27A):c.*2135C>A rs1025029271 0.00002
NM_183235.3(RAB27A):c.*1598A>G rs565137216 0.00001
NM_183235.3(RAB27A):c.*1915A>T rs1192254377 0.00001
NM_183235.3(RAB27A):c.*2031C>T rs1300772256 0.00001
NM_183235.3(RAB27A):c.*730T>C rs886051310 0.00001
NM_183235.3(RAB27A):c.473C>G (p.Pro158Arg) rs746081723 0.00001
NM_183235.3(RAB27A):c.*1110A>G rs560464809
NM_183235.3(RAB27A):c.*1172T>C rs148704535
NM_183235.3(RAB27A):c.*121A>G rs886051316
NM_183235.3(RAB27A):c.*131C>T rs993461205
NM_183235.3(RAB27A):c.*1546T>C rs1894521152
NM_183235.3(RAB27A):c.*1612dup rs886051307
NM_183235.3(RAB27A):c.*162G>C rs886051315
NM_183235.3(RAB27A):c.*1678T>A rs540548388
NM_183235.3(RAB27A):c.*1863C>G rs566144766
NM_183235.3(RAB27A):c.*1904A>T rs28620827
NM_183235.3(RAB27A):c.*1915_*1920delinsTAAATAAAT rs886051305
NM_183235.3(RAB27A):c.*1919A>T rs867969605
NM_183235.3(RAB27A):c.*1922_*1923insTAA rs555244731
NM_183235.3(RAB27A):c.*2241_*2247del rs565165091
NM_183235.3(RAB27A):c.*28A>G rs1894595727
NM_183235.3(RAB27A):c.*388G>C rs886051314
NM_183235.3(RAB27A):c.*415C>T rs1894577892
NM_183235.3(RAB27A):c.*425G>A rs886051313
NM_183235.3(RAB27A):c.*457A>G rs112397072
NM_183235.3(RAB27A):c.*561A>T rs886051312
NM_183235.3(RAB27A):c.*595G>T rs538867721
NM_183235.3(RAB27A):c.*723C>T rs886051311
NM_183235.3(RAB27A):c.*854A>G rs1894556488
NM_183235.3(RAB27A):c.*858G>A rs886051309
NM_183235.3(RAB27A):c.*9G>A rs768429078
NM_183235.3(RAB27A):c.-142-110G>A rs1275639637
NM_183235.3(RAB27A):c.-142-46A>G rs8031271
NM_183235.3(RAB27A):c.-23+13A>G rs1897659170
NM_183235.3(RAB27A):c.343+3_343+6del rs886051317

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