List of variants in gene GMPPB studied for muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 284

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.403-8G>A	rs1303123739	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.84C>A (p.Phe28Leu)	rs762117823	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_021971.4(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+12G>A
NM_021971.4(GMPPB):c.129+1G>A
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.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.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.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.339_340delinsTC (p.Asp114His)
NM_021971.4(GMPPB):c.340G>T (p.Asp114Tyr)
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.390G>A (p.Glu130=)
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.444del (p.Cys149fs)
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.478G>T (p.Val160Leu)
NM_021971.4(GMPPB):c.490C>T (p.Gln164Ter)	rs1559697183
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.640+1G>C	rs141588721
NM_021971.4(GMPPB):c.641-10C>G
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.641-2A>G
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.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.721C>A (p.Pro241Thr)
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.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.86G>T (p.Cys29Phe)
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.952-11C>T
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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