ClinVar Miner

List of variants in gene RAB27A reported as uncertain significance for Griscelli syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 127
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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.560G>A (p.Arg187Gln) rs182849552 0.00022
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.17A>G (p.Tyr6Cys) rs145253993 0.00014
NM_183235.3(RAB27A):c.307A>G (p.Asn103Asp) rs144492641 0.00013
NM_183235.3(RAB27A):c.518C>G (p.Ala173Gly) rs142217102 0.00011
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.172C>T (p.Pro58Ser) rs201284258 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.424G>C (p.Val142Leu) rs538323738 0.00006
NM_183235.3(RAB27A):c.551G>A (p.Arg184Gln) rs141362723 0.00006
NM_183235.3(RAB27A):c.636A>C (p.Glu212Asp) rs1210017547 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.257C>T (p.Thr86Ile) rs369777755 0.00004
NM_183235.3(RAB27A):c.344G>A (p.Ser115Asn) rs183582444 0.00004
NM_183235.3(RAB27A):c.383T>C (p.Ile128Thr) rs143719577 0.00004
NM_183235.3(RAB27A):c.467G>C (p.Gly156Ala) rs200031368 0.00004
NM_183235.3(RAB27A):c.49G>A (p.Asp17Asn) rs777995262 0.00004
NM_183235.3(RAB27A):c.620C>T (p.Thr207Met) rs151048993 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.275C>T (p.Ala92Val) rs137960099 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.340A>G (p.Ile114Val) rs1218762595 0.00002
NM_183235.3(RAB27A):c.37T>G (p.Leu13Val) rs905779372 0.00002
NM_183235.3(RAB27A):c.497A>G (p.Asn166Ser) rs576324438 0.00002
NM_183235.3(RAB27A):c.94G>C (p.Gly32Arg) rs778448317 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.130A>G (p.Ile44Val) rs763762181 0.00001
NM_183235.3(RAB27A):c.175G>C (p.Asp59His) rs770949071 0.00001
NM_183235.3(RAB27A):c.209T>C (p.Leu70Pro) rs1371360853 0.00001
NM_183235.3(RAB27A):c.240-5C>G rs750942183 0.00001
NM_183235.3(RAB27A):c.245G>A (p.Arg82His) rs140640177 0.00001
NM_183235.3(RAB27A):c.454G>A (p.Ala152Thr) rs104894499 0.00001
NM_183235.3(RAB27A):c.473C>G (p.Pro158Arg) rs746081723 0.00001
NM_183235.3(RAB27A):c.520A>G (p.Ile174Val) rs751121802 0.00001
NM_183235.3(RAB27A):c.596T>C (p.Val199Ala) rs778390086 0.00001
NM_183235.3(RAB27A):c.627G>C (p.Gln209His) rs776080472 0.00001
NM_183235.3(RAB27A):c.652G>A (p.Ala218Thr) rs373190916 0.00001
NC_000015.9:g.(?_55497685)_(55527152_?)dup
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.112T>C (p.Phe38Leu)
NM_183235.3(RAB27A):c.121A>G (p.Thr41Ala) rs1896186645
NM_183235.3(RAB27A):c.153G>A (p.Val51=) rs1331587655
NM_183235.3(RAB27A):c.154-6T>A rs1895989137
NM_183235.3(RAB27A):c.181G>C (p.Ala61Pro)
NM_183235.3(RAB27A):c.187G>T (p.Gly63Cys) rs1895985830
NM_183235.3(RAB27A):c.239+4T>G
NM_183235.3(RAB27A):c.239+5G>C rs1269990628
NM_183235.3(RAB27A):c.254C>T (p.Thr85Met)
NM_183235.3(RAB27A):c.259G>A (p.Ala87Thr)
NM_183235.3(RAB27A):c.273T>G (p.Asp91Glu)
NM_183235.3(RAB27A):c.295T>C (p.Phe99Leu) rs1371541124
NM_183235.3(RAB27A):c.307A>C (p.Asn103His) rs144492641
NM_183235.3(RAB27A):c.331A>G (p.Arg111Gly) rs2140972816
NM_183235.3(RAB27A):c.337T>C (p.Trp113Arg)
NM_183235.3(RAB27A):c.343+3A>G rs1895903423
NM_183235.3(RAB27A):c.343+3_343+6del rs886051317
NM_183235.3(RAB27A):c.343+6del rs1277146219
NM_183235.3(RAB27A):c.355A>G (p.Met119Val)
NM_183235.3(RAB27A):c.35T>C (p.Phe12Ser)
NM_183235.3(RAB27A):c.365A>T (p.Tyr122Phe) rs1259290779
NM_183235.3(RAB27A):c.368G>A (p.Cys123Tyr)
NM_183235.3(RAB27A):c.379G>A (p.Asp127Asn) rs2140958807
NM_183235.3(RAB27A):c.425T>C (p.Val142Ala) rs569221128
NM_183235.3(RAB27A):c.431A>G (p.Lys144Arg)
NM_183235.3(RAB27A):c.435GGA[1] (p.Glu147del) rs758624653
NM_183235.3(RAB27A):c.445A>G (p.Ile149Val) rs1197622697
NM_183235.3(RAB27A):c.498T>G (p.Asn166Lys) rs1894613403
NM_183235.3(RAB27A):c.529C>T (p.Leu177Phe) rs2140891385
NM_183235.3(RAB27A):c.542T>A (p.Ile181Lys)
NM_183235.3(RAB27A):c.568G>A (p.Asp190Asn)
NM_183235.3(RAB27A):c.592G>T (p.Val198Leu)
NM_183235.3(RAB27A):c.613G>T (p.Ala205Ser) rs928880499
NM_183235.3(RAB27A):c.619dup (p.Thr207fs)
NM_183235.3(RAB27A):c.662G>A (p.Cys221Tyr)
NM_183235.3(RAB27A):c.91G>A (p.Asp31Asn)

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