ClinVar Miner

List of variants in gene RAB27A studied for agranulocytosis

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 266
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HGVS dbSNP gnomAD frequency
NM_183235.3(RAB27A):c.*1926T>A rs8028801 0.33811
NM_183235.3(RAB27A):c.*852C>T rs3179664 0.33294
NM_183235.3(RAB27A):c.*1931T>C rs6493770 0.27860
NM_183235.3(RAB27A):c.*14C>T rs1050931 0.27464
NM_183235.3(RAB27A):c.*1662A>T rs1061823 0.27450
NM_183235.3(RAB27A):c.*936C>A rs1061870 0.27449
NM_183235.3(RAB27A):c.*949A>G rs1061873 0.27447
NM_183235.3(RAB27A):c.*1594A>G rs1061821 0.27431
NM_183235.3(RAB27A):c.*1647T>G rs1061822 0.27431
NM_183235.3(RAB27A):c.*1742A>G rs1061824 0.27430
NM_183235.3(RAB27A):c.*1427G>A rs1061875 0.27307
NM_183235.3(RAB27A):c.*1418T>A rs1061874 0.27298
NM_183235.3(RAB27A):c.*2007G>A rs6493769 0.27179
NM_183235.3(RAB27A):c.*1392A>C rs12907749 0.11078
NM_183235.3(RAB27A):c.*2067C>G rs7168226 0.10411
NM_183235.3(RAB27A):c.*731G>T rs76097718 0.02129
NM_183235.3(RAB27A):c.-142-5A>G rs61436564 0.01642
NM_183235.3(RAB27A):c.*842G>A rs59982153 0.01444
NM_183235.3(RAB27A):c.*2349A>G rs76970799 0.01147
NM_183235.3(RAB27A):c.*2160A>G rs62020099 0.00739
NM_183235.3(RAB27A):c.*387A>G rs73407873 0.00697
NM_183235.3(RAB27A):c.*132G>A rs77014779 0.00511
NM_183235.3(RAB27A):c.*472A>C rs116723038 0.00475
NM_183235.3(RAB27A):c.*1013T>C rs190724892 0.00420
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.594G>A (p.Val198=) rs141222527 0.00374
NM_183235.3(RAB27A):c.468-3C>T rs113895512 0.00237
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.-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.*725C>T rs116903039 0.00054
NM_183235.3(RAB27A):c.399C>T (p.Asn133=) rs577958598 0.00036
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.*668A>G rs118003408 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.255G>T (p.Thr85=) rs147130708 0.00006
NM_183235.3(RAB27A):c.424G>C (p.Val142Leu) rs538323738 0.00006
NM_183235.3(RAB27A):c.468-4C>T rs371060436 0.00006
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter) rs200956636 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.276T>C (p.Ala92=) rs376589113 0.00005
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.252A>G (p.Leu84=) rs4340274 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.453C>T (p.Leu151=) rs753732362 0.00003
NM_183235.3(RAB27A):c.468-16T>C rs747032887 0.00003
NM_183235.3(RAB27A):c.474C>T (p.Pro158=) rs777485094 0.00003
NM_183235.3(RAB27A):c.*2135C>A rs1025029271 0.00002
NM_183235.3(RAB27A):c.153+20A>G rs1370109364 0.00002
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.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.621G>A (p.Thr207=) rs764546558 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.126G>A (p.Val42=) rs1356387047 0.00001
NM_183235.3(RAB27A):c.130A>G (p.Ile44Val) rs763762181 0.00001
NM_183235.3(RAB27A):c.148A>C (p.Arg50=) rs767963780 0.00001
NM_183235.3(RAB27A):c.149del (p.Arg50fs) rs770601673 0.00001
NM_183235.3(RAB27A):c.153+10A>G rs774986160 0.00001
NM_183235.3(RAB27A):c.153+12A>T rs770930489 0.00001
NM_183235.3(RAB27A):c.159C>T (p.Tyr53=) rs529088883 0.00001
NM_183235.3(RAB27A):c.165C>T (p.Ala55=) rs765203586 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.239+15G>C rs760864329 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.261G>A (p.Ala87=) rs779504249 0.00001
NM_183235.3(RAB27A):c.344-13C>G rs1171254261 0.00001
NM_183235.3(RAB27A):c.400_401del (p.Lys134fs) rs755338751 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.598C>T (p.Arg200Ter) rs757849893 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_000015.10: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.(?_55497685)_(55527152_?)dup
NC_000015.9:g.55514530_55552423dup
NG_009103.1:g.(13486_?)_(?_81610)del
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.*1493T>A rs149948399
NM_183235.3(RAB27A):c.*1546T>C rs1894521152
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.*1919A>T rs867969605
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.*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.-142-65C>G rs150033129
NM_183235.3(RAB27A):c.-23+13A>G rs1897659170
NM_183235.3(RAB27A):c.112T>C (p.Phe38Leu)
NM_183235.3(RAB27A):c.121A>C (p.Thr41Pro) rs1896186645
NM_183235.3(RAB27A):c.121A>G (p.Thr41Ala) rs1896186645
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.153+14C>A
NM_183235.3(RAB27A):c.153G>A (p.Val51=) rs1331587655
NM_183235.3(RAB27A):c.154-6T>A rs1895989137
NM_183235.3(RAB27A):c.154-7G>A
NM_183235.3(RAB27A):c.154-7G>C
NM_183235.3(RAB27A):c.15T>C (p.Asp5=) rs952920589
NM_183235.3(RAB27A):c.167G>A (p.Ser56Asn) rs540520068
NM_183235.3(RAB27A):c.174G>A (p.Pro58=) rs910190895
NM_183235.3(RAB27A):c.181G>C (p.Ala61Pro)
NM_183235.3(RAB27A):c.187G>T (p.Gly63Cys) rs1895985830
NM_183235.3(RAB27A):c.18_19del (p.Tyr6_Asp7delinsTer) rs1555394745
NM_183235.3(RAB27A):c.192A>G (p.Arg64=)
NM_183235.3(RAB27A):c.195C>G (p.Gly65=) rs897453247
NM_183235.3(RAB27A):c.217T>G (p.Trp73Gly) rs28938176
NM_183235.3(RAB27A):c.220G>C (p.Asp74His)
NM_183235.3(RAB27A):c.229G>A (p.Gly77Arg)
NM_183235.3(RAB27A):c.239+19T>C rs1481724263
NM_183235.3(RAB27A):c.239+3A>G rs1595695268
NM_183235.3(RAB27A):c.239+4T>G
NM_183235.3(RAB27A):c.239+5G>C rs1269990628
NM_183235.3(RAB27A):c.239+9T>A
NM_183235.3(RAB27A):c.239+9T>C
NM_183235.3(RAB27A):c.240-17T>G
NM_183235.3(RAB27A):c.240-2A>C
NM_183235.3(RAB27A):c.240-5C>T rs750942183
NM_183235.3(RAB27A):c.240-6T>G rs1895913515
NM_183235.3(RAB27A):c.240-8G>A rs928130000
NM_183235.3(RAB27A):c.240-9T>C rs758629648
NM_183235.3(RAB27A):c.251dup (p.Leu84fs) rs1895911610
NM_183235.3(RAB27A):c.254C>T (p.Thr85Met)
NM_183235.3(RAB27A):c.255G>A (p.Thr85=) rs147130708
NM_183235.3(RAB27A):c.259G>A (p.Ala87Thr)
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro) rs104894497
NM_183235.3(RAB27A):c.259G>T (p.Ala87Ser)
NM_183235.3(RAB27A):c.260C>T (p.Ala87Val) rs201697259
NM_183235.3(RAB27A):c.273T>G (p.Asp91Glu)
NM_183235.3(RAB27A):c.288T>C (p.Leu96=)
NM_183235.3(RAB27A):c.289C>T (p.Leu97=) rs1354193730
NM_183235.3(RAB27A):c.295T>C (p.Phe99Leu) rs1371541124
NM_183235.3(RAB27A):c.2T>C (p.Met1Thr) rs141281020
NM_183235.3(RAB27A):c.307A>C (p.Asn103His) rs144492641
NM_183235.3(RAB27A):c.309T>C (p.Asn103=)
NM_183235.3(RAB27A):c.331A>G (p.Arg111Gly) rs2140972816
NM_183235.3(RAB27A):c.335del (p.Asn112fs) rs756644243
NM_183235.3(RAB27A):c.337T>C (p.Trp113Arg)
NM_183235.3(RAB27A):c.33G>A (p.Lys11=)
NM_183235.3(RAB27A):c.342A>T (p.Ile114=) rs1895903776
NM_183235.3(RAB27A):c.343+10A>G
NM_183235.3(RAB27A):c.343+11T>C
NM_183235.3(RAB27A):c.343+17C>T
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.344-7T>C
NM_183235.3(RAB27A):c.351A>G (p.Leu117=)
NM_183235.3(RAB27A):c.352C>T (p.Gln118Ter) rs104894500
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.377del (p.Pro126fs) rs1895696380
NM_183235.3(RAB27A):c.379G>A (p.Asp127Asn) rs2140958807
NM_183235.3(RAB27A):c.389T>C (p.Leu130Pro) rs104894498
NM_183235.3(RAB27A):c.390G>A (p.Leu130=)
NM_183235.3(RAB27A):c.396A>G (p.Gly132=)
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.425T>C (p.Val142Ala) rs569221128
NM_183235.3(RAB27A):c.428T>C (p.Val143Ala)
NM_183235.3(RAB27A):c.431A>G (p.Lys144Arg)
NM_183235.3(RAB27A):c.435GGA[1] (p.Glu147del) rs758624653
NM_183235.3(RAB27A):c.439G>T (p.Glu147Ter) rs75258234
NM_183235.3(RAB27A):c.445A>G (p.Ile149Val) rs1197622697
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+1G>T
NM_183235.3(RAB27A):c.467+3_467+6del
NM_183235.3(RAB27A):c.467+5G>A rs2140958268
NM_183235.3(RAB27A):c.468-14T>C
NM_183235.3(RAB27A):c.468-7C>A
NM_183235.3(RAB27A):c.475T>C (p.Tyr159His) rs1894614852
NM_183235.3(RAB27A):c.476A>G (p.Tyr159Cys)
NM_183235.3(RAB27A):c.489T>C (p.Ser163=) rs2140891719
NM_183235.3(RAB27A):c.498T>G (p.Asn166Lys) rs1894613403
NM_183235.3(RAB27A):c.509_510del (p.Ile170fs)
NM_183235.3(RAB27A):c.514_518del (p.Gln172fs) rs767481076
NM_183235.3(RAB27A):c.519A>G (p.Ala173=) rs1566893120
NM_183235.3(RAB27A):c.529C>T (p.Leu177Phe) rs2140891385
NM_183235.3(RAB27A):c.532C>T (p.Leu178=)
NM_183235.3(RAB27A):c.53_54del (p.Ser18fs) rs1595700039
NM_183235.3(RAB27A):c.542T>A (p.Ile181Lys)
NM_183235.3(RAB27A):c.561G>A (p.Arg187=)
NM_183235.3(RAB27A):c.568G>A (p.Asp190Asn)
NM_183235.3(RAB27A):c.57T>C (p.Gly19=)
NM_183235.3(RAB27A):c.592G>T (p.Val198Leu)
NM_183235.3(RAB27A):c.593T>C (p.Val198Ala) rs554967424
NM_183235.3(RAB27A):c.597G>A (p.Val199=) rs1894604106
NM_183235.3(RAB27A):c.612T>C (p.His204=)
NM_183235.3(RAB27A):c.613G>T (p.Ala205Ser) rs928880499
NM_183235.3(RAB27A):c.619dup (p.Thr207fs)
NM_183235.3(RAB27A):c.638_642del (p.Glu213fs)
NM_183235.3(RAB27A):c.662G>A (p.Cys221Tyr)
NM_183235.3(RAB27A):c.87T>C (p.Tyr29=)
NM_183235.3(RAB27A):c.91G>A (p.Asp31Asn)
NM_183235.3(RAB27A):c.93T>C (p.Asp31=)

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