ClinVar Miner

List of variants in gene GMPPB reported as uncertain significance for congenital nervous system disorder

Included ClinVar conditions (840):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 122
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_021971.4(GMPPB):c.887G>A (p.Arg296Gln) rs144040971 0.00014
NM_021971.4(GMPPB):c.956G>A (p.Arg319His) rs768327938 0.00011
NM_021971.4(GMPPB):c.129+5G>A rs370203820 0.00010
NM_021971.4(GMPPB):c.304G>C (p.Asp102His) rs368542417 0.00008
NM_021971.4(GMPPB):c.554G>A (p.Arg185His) rs755165049 0.00006
NM_021971.4(GMPPB):c.869C>T (p.Thr290Met) rs139668958 0.00006
NM_021971.4(GMPPB):c.160A>C (p.Ser54Arg) rs145671483 0.00005
NM_021971.4(GMPPB):c.953T>C (p.Val318Ala) rs559784211 0.00004
NM_021971.4(GMPPB):c.449A>T (p.Glu150Val) rs1185784683 0.00003
NM_021971.4(GMPPB):c.812A>G (p.Asn271Ser) rs370840899 0.00003
NM_021971.4(GMPPB):c.937C>T (p.Arg313Cys) rs144421130 0.00003
NM_021971.4(GMPPB):c.1016A>G (p.Asn339Ser) rs753014812 0.00002
NM_021971.4(GMPPB):c.727C>T (p.Arg243Trp) rs771028755 0.00002
NM_021971.4(GMPPB):c.893G>A (p.Arg298His) rs766498097 0.00002
NM_021971.4(GMPPB):c.931C>T (p.Arg311Cys) rs371188899 0.00002
NM_021971.4(GMPPB):c.1027G>C (p.Val343Leu) rs1409825474 0.00001
NM_021971.4(GMPPB):c.118G>C (p.Ala40Pro) rs1445731992 0.00001
NM_021971.4(GMPPB):c.210G>A (p.Arg70=) rs201795833 0.00001
NM_021971.4(GMPPB):c.356C>A (p.Ala119Asp) rs1272084445 0.00001
NM_021971.4(GMPPB):c.478G>A (p.Val160Met) rs752805529 0.00001
NM_021971.4(GMPPB):c.572C>T (p.Thr191Met) rs146287156 0.00001
NM_021971.4(GMPPB):c.578T>C (p.Ile193Thr) rs780301264 0.00001
NM_021971.4(GMPPB):c.596C>G (p.Pro199Arg) rs765573379 0.00001
NM_021971.4(GMPPB):c.629T>C (p.Met210Thr) rs759137392 0.00001
NM_021971.4(GMPPB):c.70C>T (p.Pro24Ser) rs1310563727 0.00001
NM_021971.4(GMPPB):c.728G>A (p.Arg243Gln) rs749730219 0.00001
NM_021971.4(GMPPB):c.781C>T (p.Arg261Cys) rs746357591 0.00001
NM_021971.4(GMPPB):c.870G>A (p.Thr290=) rs778490288 0.00001
NM_021971.4(GMPPB):c.877C>T (p.Arg293Trp) rs756682220 0.00001
NM_021971.4(GMPPB):c.910G>A (p.Glu304Lys) rs762995747 0.00001
NM_021971.4(GMPPB):c.938G>A (p.Arg313His) rs775910135 0.00001
NM_021971.4(GMPPB):c.982G>A (p.Glu328Lys) rs1356812347 0.00001
NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn) rs397509422
NM_021971.4(GMPPB):c.1009T>C (p.Tyr337His) rs1553691683
NM_021971.4(GMPPB):c.1027G>A (p.Val343Met)
NM_021971.4(GMPPB):c.1036C>T (p.His346Tyr)
NM_021971.4(GMPPB):c.1040A>G (p.Lys347Arg) rs776117691
NM_021971.4(GMPPB):c.1046T>C (p.Ile349Thr)
NM_021971.4(GMPPB):c.106C>T (p.His36Tyr)
NM_021971.4(GMPPB):c.1077C>G (p.Ile359Met) rs1553691662
NM_021971.4(GMPPB):c.116A>G (p.Glu39Gly) rs1575297274
NM_021971.4(GMPPB):c.128C>T (p.Ala43Val) rs2080459950
NM_021971.4(GMPPB):c.129+3A>G
NM_021971.4(GMPPB):c.129+6A>C
NM_021971.4(GMPPB):c.129G>A (p.Ala43=) rs2108213396
NM_021971.4(GMPPB):c.15C>G (p.Ile5Met) rs1464233491
NM_021971.4(GMPPB):c.170_171delinsTC (p.Ser57Phe)
NM_021971.4(GMPPB):c.183G>C (p.Glu61Asp)
NM_021971.4(GMPPB):c.188A>C (p.Glu63Ala)
NM_021971.4(GMPPB):c.191T>G (p.Met64Arg)
NM_021971.4(GMPPB):c.259+3C>G
NM_021971.4(GMPPB):c.259+6T>C rs2080451289
NM_021971.4(GMPPB):c.271G>A (p.Ala91Thr)
NM_021971.4(GMPPB):c.287_307del (p.Leu96_Asp102del) rs1559697587
NM_021971.4(GMPPB):c.288_290dup (p.Leu97dup) rs777323266
NM_021971.4(GMPPB):c.296A>G (p.Glu99Gly)
NM_021971.4(GMPPB):c.297G>C (p.Glu99Asp)
NM_021971.4(GMPPB):c.299C>T (p.Thr100Ile) rs1359728758
NM_021971.4(GMPPB):c.304G>A (p.Asp102Asn) rs368542417
NM_021971.4(GMPPB):c.312C>A (p.Phe104Leu)
NM_021971.4(GMPPB):c.331G>A (p.Val111Met) rs141201072
NM_021971.4(GMPPB):c.338G>A (p.Cys113Tyr)
NM_021971.4(GMPPB):c.340G>T (p.Asp114Tyr)
NM_021971.4(GMPPB):c.374G>A (p.Arg125Gln) rs758366693
NM_021971.4(GMPPB):c.388G>A (p.Glu130Lys) rs367734644
NM_021971.4(GMPPB):c.388_389delinsAG (p.Glu130Arg) rs2080445379
NM_021971.4(GMPPB):c.38G>T (p.Arg13Leu) rs1183380163
NM_021971.4(GMPPB):c.402+7C>T rs746420101
NM_021971.4(GMPPB):c.433G>A (p.Gly145Ser) rs771732077
NM_021971.4(GMPPB):c.434G>C (p.Gly145Ala) rs2080436965
NM_021971.4(GMPPB):c.472C>T (p.Arg158Trp)
NM_021971.4(GMPPB):c.473G>C (p.Arg158Pro) rs374497499
NM_021971.4(GMPPB):c.478G>C (p.Val160Leu) rs752805529
NM_021971.4(GMPPB):c.503C>A (p.Ser168Tyr)
NM_021971.4(GMPPB):c.510G>C (p.Lys170Asn) rs2080435262
NM_021971.4(GMPPB):c.524T>C (p.Met175Thr)
NM_021971.4(GMPPB):c.535A>G (p.Ser179Gly) rs2080434558
NM_021971.4(GMPPB):c.562-7C>G rs2108211626
NM_021971.4(GMPPB):c.563T>C (p.Leu188Pro) rs781132109
NM_021971.4(GMPPB):c.569C>G (p.Pro190Arg) rs1559697016
NM_021971.4(GMPPB):c.584A>G (p.Lys195Arg)
NM_021971.4(GMPPB):c.584AGG[1] (p.Glu196del)
NM_021971.4(GMPPB):c.586G>C (p.Glu196Gln)
NM_021971.4(GMPPB):c.589G>T (p.Val197Phe) rs2080431779
NM_021971.4(GMPPB):c.607_609del (p.Lys203del) rs1553691853
NM_021971.4(GMPPB):c.614G>A (p.Gly205Glu)
NM_021971.4(GMPPB):c.62C>A (p.Thr21Asn) rs1438380704
NM_021971.4(GMPPB):c.638A>G (p.Gln213Arg) rs2080430729
NM_021971.4(GMPPB):c.641-19_641-9del rs2080428796
NM_021971.4(GMPPB):c.68A>G (p.Lys23Arg)
NM_021971.4(GMPPB):c.714G>T (p.Gln238His)
NM_021971.4(GMPPB):c.71C>T (p.Pro24Leu) rs2108213481
NM_021971.4(GMPPB):c.741C>T (p.Gly247=) rs2108211246
NM_021971.4(GMPPB):c.746G>A (p.Gly249Asp) rs994922049
NM_021971.4(GMPPB):c.757A>G (p.Asn253Asp) rs1015055492
NM_021971.4(GMPPB):c.758A>G (p.Asn253Ser) rs1559696765
NM_021971.4(GMPPB):c.769-10C>G rs2108211080
NM_021971.4(GMPPB):c.786C>G (p.Ile262Met) rs201123231
NM_021971.4(GMPPB):c.792G>C (p.Gln264His) rs1559696652
NM_021971.4(GMPPB):c.805G>T (p.Gly269Cys)
NM_021971.4(GMPPB):c.832G>A (p.Val278Met)
NM_021971.4(GMPPB):c.841G>A (p.Glu281Lys)
NM_021971.4(GMPPB):c.850G>A (p.Val284Met) rs2108210918
NM_021971.4(GMPPB):c.854G>T (p.Cys285Phe) rs2108210916
NM_021971.4(GMPPB):c.863G>C (p.Arg288Pro) rs769346834
NM_021971.4(GMPPB):c.878G>A (p.Arg293Gln) rs748809549
NM_021971.4(GMPPB):c.907C>T (p.Leu303Phe) rs2080420731
NM_021971.4(GMPPB):c.918C>G (p.Cys306Trp) rs1186936513
NM_021971.4(GMPPB):c.923T>G (p.Val308Gly) rs750488885
NM_021971.4(GMPPB):c.929G>T (p.Trp310Leu)
NM_021971.4(GMPPB):c.935G>C (p.Cys312Ser)
NM_021971.4(GMPPB):c.938G>T (p.Arg313Leu) rs775910135
NM_021971.4(GMPPB):c.940G>A (p.Val314Met) rs1343235792
NM_021971.4(GMPPB):c.940G>T (p.Val314Leu) rs1343235792
NM_021971.4(GMPPB):c.948G>C (p.Gln316His)
NM_021971.4(GMPPB):c.94C>T (p.Pro32Ser) rs1575297292
NM_021971.4(GMPPB):c.951G>T (p.Trp317Cys)
NM_021971.4(GMPPB):c.952-21_952-17dup
NM_021971.4(GMPPB):c.952-2A>G rs372512288
NM_021971.4(GMPPB):c.967G>A (p.Val323Met) rs758284245
NM_021971.4(GMPPB):c.967G>T (p.Val323Leu) rs758284245
NM_021971.4(GMPPB):c.997A>T (p.Asn333Tyr) rs2080415182

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.