ClinVar Miner

List of variants in gene GMPPB studied for congenital muscular dystrophy

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 279
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_021971.4(GMPPB):c.551A>G (p.Gln184Arg) rs1466685 0.98834
NM_021971.4(GMPPB):c.376C>G (p.His126Asp) rs34345884 0.01439
NM_021971.4(GMPPB):c.330C>T (p.Asp110=) rs11547261 0.01192
NM_021971.4(GMPPB):c.551= (p.Gln184=) rs1466685 0.01166
NM_021971.4(GMPPB):c.1017C>T (p.Asn339=) rs147074020 0.00113
NM_021971.4(GMPPB):c.640+11G>A rs191912441 0.00101
NM_021971.4(GMPPB):c.951+9G>A rs55816606 0.00059
NM_021971.4(GMPPB):c.79G>C (p.Asp27His) rs142336618 0.00054
NM_021971.4(GMPPB):c.309T>C (p.Pro103=) rs147516683 0.00042
NM_021971.4(GMPPB):c.729G>A (p.Arg243=) rs370448223 0.00035
NM_021971.4(GMPPB):c.1065G>A (p.Glu355=) rs143218268 0.00031
NM_021971.4(GMPPB):c.562-9C>A rs183240200 0.00024
NM_021971.4(GMPPB):c.702G>A (p.Gln234=) rs368795315 0.00024
NM_021971.4(GMPPB):c.1048G>A (p.Gly350Ser) rs184127567 0.00022
NM_021971.4(GMPPB):c.939C>T (p.Arg313=) rs147714661 0.00021
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) rs202160208 0.00019
NM_021971.4(GMPPB):c.129+17G>A rs375887616 0.00018
NM_021971.4(GMPPB):c.887G>A (p.Arg296Gln) rs144040971 0.00014
NM_021971.4(GMPPB):c.403-6A>G rs377689496 0.00013
NM_021971.4(GMPPB):c.402+15C>T rs371972364 0.00011
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.129+7C>A rs748350135 0.00009
NM_021971.4(GMPPB):c.516C>T (p.Asn172=) rs147672249 0.00009
NM_021971.4(GMPPB):c.525G>T (p.Met175Ile) rs147966522 0.00009
NM_021971.4(GMPPB):c.304G>C (p.Asp102His) rs368542417 0.00008
NM_021971.4(GMPPB):c.30T>C (p.Tyr10=) rs140509231 0.00008
NM_021971.4(GMPPB):c.459A>G (p.Thr153=) rs140968388 0.00008
NM_021971.4(GMPPB):c.621A>G (p.Leu207=) rs369255307 0.00007
NM_021971.4(GMPPB):c.554G>A (p.Arg185His) rs755165049 0.00006
NM_021971.4(GMPPB):c.859C>T (p.Arg287Trp) rs142908436 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.952-14A>G rs747845961 0.00005
NM_021971.4(GMPPB):c.988G>A (p.Val330Ile) rs199922550 0.00005
NM_021971.4(GMPPB):c.656T>C (p.Ile219Thr) rs761714818 0.00004
NM_021971.4(GMPPB):c.953T>C (p.Val318Ala) rs559784211 0.00004
NM_021971.4(GMPPB):c.198A>C (p.Ala66=) rs889957809 0.00003
NM_021971.4(GMPPB):c.449A>T (p.Glu150Val) rs1185784683 0.00003
NM_021971.4(GMPPB):c.458C>T (p.Thr153Ile) rs202013297 0.00003
NM_021971.4(GMPPB):c.486G>A (p.Lys162=) rs144305518 0.00003
NM_021971.4(GMPPB):c.531C>A (p.Ile177=) rs140427047 0.00003
NM_021971.4(GMPPB):c.573G>A (p.Thr191=) rs775798814 0.00003
NM_021971.4(GMPPB):c.594C>T (p.Phe198=) rs148249248 0.00003
NM_021971.4(GMPPB):c.760G>A (p.Val254Met) rs875989850 0.00003
NM_021971.4(GMPPB):c.769-9C>T rs781777729 0.00003
NM_021971.4(GMPPB):c.786C>T (p.Ile262=) rs201123231 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.130-16G>T rs201729050 0.00002
NM_021971.4(GMPPB):c.260-5C>T rs762790429 0.00002
NM_021971.4(GMPPB):c.432C>T (p.Tyr144=) rs779522830 0.00002
NM_021971.4(GMPPB):c.562-10A>G rs769914373 0.00002
NM_021971.4(GMPPB):c.697C>T (p.Leu233=) rs772099238 0.00002
NM_021971.4(GMPPB):c.727C>T (p.Arg243Trp) rs771028755 0.00002
NM_021971.4(GMPPB):c.759C>T (p.Asn253=) rs1032078654 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.966C>T (p.Asn322=) rs781114909 0.00002
NM_021971.4(GMPPB):c.1014C>T (p.Leu338=) rs756344903 0.00001
NM_021971.4(GMPPB):c.1027G>C (p.Val343Leu) rs1409825474 0.00001
NM_021971.4(GMPPB):c.1050C>A (p.Gly350=) rs746616705 0.00001
NM_021971.4(GMPPB):c.1070G>A (p.Arg357His) rs771861177 0.00001
NM_021971.4(GMPPB):c.118G>C (p.Ala40Pro) rs1445731992 0.00001
NM_021971.4(GMPPB):c.130-13T>C rs756852893 0.00001
NM_021971.4(GMPPB):c.130-6T>G rs369862012 0.00001
NM_021971.4(GMPPB):c.210+9C>T rs775118468 0.00001
NM_021971.4(GMPPB):c.210G>A (p.Arg70=) rs201795833 0.00001
NM_021971.4(GMPPB):c.294dup (p.Glu99Ter) rs1365085828 0.00001
NM_021971.4(GMPPB):c.300T>C (p.Thr100=) rs1269383125 0.00001
NM_021971.4(GMPPB):c.356C>A (p.Ala119Asp) rs1272084445 0.00001
NM_021971.4(GMPPB):c.395C>G (p.Ser132Cys) rs145535498 0.00001
NM_021971.4(GMPPB):c.402+1G>A rs145564018 0.00001
NM_021971.4(GMPPB):c.402+8G>A rs374491667 0.00001
NM_021971.4(GMPPB):c.477C>T (p.Phe159=) rs756215708 0.00001
NM_021971.4(GMPPB):c.478G>A (p.Val160Met) rs752805529 0.00001
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys) rs397509425 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.640+10G>C rs769641702 0.00001
NM_021971.4(GMPPB):c.640+19A>G rs1472999197 0.00001
NM_021971.4(GMPPB):c.672C>T (p.Asp224=) rs1247769949 0.00001
NM_021971.4(GMPPB):c.6G>A (p.Lys2=) rs1297069725 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.801C>T (p.Ser267=) rs752457623 0.00001
NM_021971.4(GMPPB):c.831C>T (p.Gly277=) rs763262592 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.918C>T (p.Cys306=) rs1186936513 0.00001
NM_021971.4(GMPPB):c.91A>G (p.Lys31Glu) rs764625823 0.00001
NM_021971.4(GMPPB):c.938G>A (p.Arg313His) rs775910135 0.00001
NM_021971.4(GMPPB):c.951+7C>A rs973900671 0.00001
NM_021971.4(GMPPB):c.954A>G (p.Val318=) rs747818187 0.00001
NM_021971.4(GMPPB):c.955C>T (p.Arg319Cys) rs780867515 0.00001
NM_021971.4(GMPPB):c.95C>T (p.Pro32Leu) rs397509426 0.00001
NM_021971.4(GMPPB):c.981T>C (p.Gly327=) rs779167148 0.00001
NM_021971.4(GMPPB):c.982G>A (p.Glu328Lys) rs1356812347 0.00001
NM_021971.4(GMPPB):c.987C>T (p.Asp329=) rs541447888 0.00001
NM_021971.2(GMPPB):c.[1000G>A];[951+1G>A]
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.1026C>T (p.Ser342=)
NM_021971.4(GMPPB):c.1027G>A (p.Val343Met)
NM_021971.4(GMPPB):c.1036C>T (p.His346Tyr)
NM_021971.4(GMPPB):c.1039_1042dup (p.Ser348Ter) rs1210040661
NM_021971.4(GMPPB):c.1040A>G (p.Lys347Arg) rs776117691
NM_021971.4(GMPPB):c.1046T>C (p.Ile349Thr)
NM_021971.4(GMPPB):c.1051_1054dup (p.Ser352Ter)
NM_021971.4(GMPPB):c.106C>T (p.His36Tyr)
NM_021971.4(GMPPB):c.1071T>A (p.Arg357=)
NM_021971.4(GMPPB):c.1077C>G (p.Ile359Met) rs1553691662
NM_021971.4(GMPPB):c.1082G>A (p.Ter361=)
NM_021971.4(GMPPB):c.109C>T (p.Gln37Ter) rs1348189028
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+1G>T rs2108213393
NM_021971.4(GMPPB):c.129+3A>G
NM_021971.4(GMPPB):c.129+6A>C
NM_021971.4(GMPPB):c.129+7C>T rs748350135
NM_021971.4(GMPPB):c.129G>A (p.Ala43=) rs2108213396
NM_021971.4(GMPPB):c.130-2A>C
NM_021971.4(GMPPB):c.132_141del (p.Gly45fs)
NM_021971.4(GMPPB):c.135C>T (p.Gly45=) rs1426684077
NM_021971.4(GMPPB):c.150C>T (p.Ile50=)
NM_021971.4(GMPPB):c.159G>T (p.Val53=) rs1575296935
NM_021971.4(GMPPB):c.15C>A (p.Ile5=) rs1464233491
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.210+20C>A rs1360110702
NM_021971.4(GMPPB):c.210+9_210+10del rs776779111
NM_021971.4(GMPPB):c.21G>T (p.Val7=)
NM_021971.4(GMPPB):c.259+19G>A
NM_021971.4(GMPPB):c.259+3C>G
NM_021971.4(GMPPB):c.259+6T>C rs2080451289
NM_021971.4(GMPPB):c.259+9A>C rs2108212798
NM_021971.4(GMPPB):c.260-13C>G
NM_021971.4(GMPPB):c.260-7C>T
NM_021971.4(GMPPB):c.264G>A (p.Gly88=)
NM_021971.4(GMPPB):c.271G>A (p.Ala91Thr)
NM_021971.4(GMPPB):c.271_283del (p.Ala91fs) rs1191822017
NM_021971.4(GMPPB):c.287_307del (p.Leu96_Asp102del) rs1559697587
NM_021971.4(GMPPB):c.288A>G (p.Leu96=)
NM_021971.4(GMPPB):c.288_290dup (p.Leu97dup) rs777323266
NM_021971.4(GMPPB):c.291C>T (p.Leu97=)
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.308C>T (p.Pro103Leu) rs875989851
NM_021971.4(GMPPB):c.312C>A (p.Phe104Leu)
NM_021971.4(GMPPB):c.315C>T (p.Phe105=) rs1354442227
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.358A>G (p.Met120Val) rs1559697515
NM_021971.4(GMPPB):c.365_366dup (p.Phe123fs) rs1553691975
NM_021971.4(GMPPB):c.36G>A (p.Thr12=)
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+16T>G
NM_021971.4(GMPPB):c.402+7C>T rs746420101
NM_021971.4(GMPPB):c.403-10T>G rs998425223
NM_021971.4(GMPPB):c.403-5T>C rs1559697285
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.458_459del (p.Thr153fs) rs1553691918
NM_021971.4(GMPPB):c.465C>T (p.Arg155=) rs2080436229
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.506A>G (p.Asn169Ser)
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.543A>G (p.Ala181=) rs2080434465
NM_021971.4(GMPPB):c.561+13C>G
NM_021971.4(GMPPB):c.561+14A>G rs1403713701
NM_021971.4(GMPPB):c.561+18G>A
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.600T>C (p.Ile200=)
NM_021971.4(GMPPB):c.607_609del (p.Lys203del) rs1553691853
NM_021971.4(GMPPB):c.612G>A (p.Glu204=)
NM_021971.4(GMPPB):c.614G>A (p.Gly205Glu)
NM_021971.4(GMPPB):c.615G>A (p.Gly205=)
NM_021971.4(GMPPB):c.618G>A (p.Gln206=) rs2108211544
NM_021971.4(GMPPB):c.618dup (p.Leu207fs)
NM_021971.4(GMPPB):c.619C>T (p.Leu207=) rs2108211541
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.640+15C>T
NM_021971.4(GMPPB):c.640+1G>A rs141588721
NM_021971.4(GMPPB):c.641-10C>T rs1438419966
NM_021971.4(GMPPB):c.641-11C>T
NM_021971.4(GMPPB):c.641-14A>C
NM_021971.4(GMPPB):c.641-19_641-9del rs2080428796
NM_021971.4(GMPPB):c.64C>T (p.Pro22Ser) rs397509424
NM_021971.4(GMPPB):c.654C>T (p.Asp218=)
NM_021971.4(GMPPB):c.65C>T (p.Pro22Leu)
NM_021971.4(GMPPB):c.663G>A (p.Gln221=) rs2108211356
NM_021971.4(GMPPB):c.684dup (p.Met229fs) rs2080427976
NM_021971.4(GMPPB):c.68A>G (p.Lys23Arg)
NM_021971.4(GMPPB):c.699G>A (p.Leu233=)
NM_021971.4(GMPPB):c.714G>T (p.Gln238His)
NM_021971.4(GMPPB):c.71C>T (p.Pro24Leu) rs2108213481
NM_021971.4(GMPPB):c.728_746delinsACAGA (p.Arg243fs) rs2080426663
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.768+13C>T
NM_021971.4(GMPPB):c.769-10C>G rs2108211080
NM_021971.4(GMPPB):c.769-20_769-17dup rs764253773
NM_021971.4(GMPPB):c.769-2A>G rs2080423660
NM_021971.4(GMPPB):c.786C>G (p.Ile262Met) rs201123231
NM_021971.4(GMPPB):c.790C>T (p.Gln264Ter) rs763971677
NM_021971.4(GMPPB):c.792G>C (p.Gln264His) rs1559696652
NM_021971.4(GMPPB):c.805G>T (p.Gly269Cys)
NM_021971.4(GMPPB):c.813T>C (p.Asn271=)
NM_021971.4(GMPPB):c.819C>T (p.Ser273=) rs774498980
NM_021971.4(GMPPB):c.827C>T (p.Pro276Leu) rs766298888
NM_021971.4(GMPPB):c.828T>C (p.Pro276=) rs200706198
NM_021971.4(GMPPB):c.832G>A (p.Val278Met)
NM_021971.4(GMPPB):c.840C>G (p.Val280=) rs763668055
NM_021971.4(GMPPB):c.840C>T (p.Val280=)
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.854_855del (p.Cys285fs)
NM_021971.4(GMPPB):c.859C>A (p.Arg287=) rs142908436
NM_021971.4(GMPPB):c.862C>T (p.Arg288Trp)
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.903C>G (p.Ser301=) rs2108210840
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.927C>A (p.Gly309=)
NM_021971.4(GMPPB):c.929G>T (p.Trp310Leu)
NM_021971.4(GMPPB):c.935G>C (p.Cys312Ser)
NM_021971.4(GMPPB):c.936C>T (p.Cys312=) rs2108210776
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.951+18G>T rs2108210687
NM_021971.4(GMPPB):c.951+9G>T rs55816606
NM_021971.4(GMPPB):c.951G>A (p.Trp317Ter)
NM_021971.4(GMPPB):c.951G>T (p.Trp317Cys)
NM_021971.4(GMPPB):c.952-12C>T
NM_021971.4(GMPPB):c.952-15T>C
NM_021971.4(GMPPB):c.952-17C>T
NM_021971.4(GMPPB):c.952-21_952-17dup
NM_021971.4(GMPPB):c.952-2A>G rs372512288
NM_021971.4(GMPPB):c.952-5del
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.972A>G (p.Thr324=)
NM_021971.4(GMPPB):c.972dup (p.Val325fs)
NM_021971.4(GMPPB):c.984G>A (p.Glu328=) rs2108210451
NM_021971.4(GMPPB):c.997A>T (p.Asn333Tyr) rs2080415182

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