ClinVar Miner

List of variants reported as uncertain significance for Griscelli syndrome type 2

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 123
Download table as spreadsheet
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.275C>T (p.Ala92Val) rs137960099 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.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
NC_000015.9:g.(?_55497705)_(55727276_?)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.*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.-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)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.