ClinVar Miner

List of variants in gene GATM studied for inborn disorder of amino acid and other organic acid metabolism

Included ClinVar conditions (315):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 452
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HGVS dbSNP gnomAD frequency
NM_001482.3(GATM):c.*940C>T rs1049518 0.55910
NM_001482.3(GATM):c.1252T>C (p.Leu418=) rs1145086 0.55793
NM_001482.3(GATM):c.*715T>C rs1049508 0.46090
NM_001482.3(GATM):c.330A>T (p.Gln110His) rs1288775 0.45330
NM_001482.3(GATM):c.*600A>G rs1049503 0.31074
NM_001482.3(GATM):c.*913G>A rs17618637 0.08643
NM_001482.3(GATM):c.*847G>A rs1145087 0.00446
NM_001482.3(GATM):c.669T>C (p.Tyr223=) rs151231277 0.00163
NM_001482.3(GATM):c.*699A>C rs750817737 0.00099
NM_001482.3(GATM):c.407C>T (p.Thr136Met) rs148564534 0.00063
NM_001482.3(GATM):c.*27C>G rs200143728 0.00058
NM_001482.3(GATM):c.*55C>A rs771806537 0.00054
NM_001482.2(GATM):c.-274C>T rs745765661 0.00035
NM_001482.3(GATM):c.484+19C>T rs374556262 0.00026
NM_001482.3(GATM):c.701A>G (p.Asp234Gly) rs146057680 0.00022
NM_001482.3(GATM):c.160G>A (p.Asp54Asn) rs780777061 0.00017
NM_001482.3(GATM):c.282G>A (p.Glu94=) rs141223762 0.00016
NM_001482.3(GATM):c.692C>G (p.Ser231Cys) rs202225656 0.00016
NM_001482.3(GATM):c.288+20_288+21del rs748043870 0.00012
NM_001482.3(GATM):c.801A>C (p.Ala267=) rs371507418 0.00012
NM_001482.3(GATM):c.*799T>C rs903173589 0.00011
NM_001482.3(GATM):c.1041C>T (p.Asp347=) rs139599307 0.00007
NM_001482.3(GATM):c.277A>G (p.Ile93Val) rs34991226 0.00006
NM_001482.3(GATM):c.1030A>G (p.Ile344Val) rs747608698 0.00004
NM_001482.3(GATM):c.1043-3T>C rs772985563 0.00004
NM_001482.3(GATM):c.1106G>A (p.Arg369His) rs747557239 0.00004
NM_001482.3(GATM):c.1244G>A (p.Arg415Gln) rs374592247 0.00004
NM_001482.3(GATM):c.156T>A (p.Ala52=) rs185569234 0.00004
NM_001482.3(GATM):c.338A>G (p.His113Arg) rs910754475 0.00004
NM_001482.3(GATM):c.485-18A>G rs770332433 0.00004
NM_001482.3(GATM):c.624C>G (p.Ala208=) rs149853417 0.00004
NM_001482.3(GATM):c.979-19G>T rs575171738 0.00004
NM_001482.3(GATM):c.990C>G (p.Phe330Leu) rs770808654 0.00004
NM_001482.3(GATM):c.1159+14A>G rs368974196 0.00003
NM_001482.3(GATM):c.1239G>A (p.Arg413=) rs550159982 0.00003
NM_001482.3(GATM):c.139C>T (p.Arg47Trp) rs749075034 0.00003
NM_001482.3(GATM):c.279C>G (p.Ile93Met) rs192378417 0.00003
NM_001482.3(GATM):c.1042G>A (p.Asp348Asn) rs755493537 0.00002
NM_001482.3(GATM):c.140G>A (p.Arg47Gln) rs777639154 0.00002
NM_001482.3(GATM):c.270G>A (p.Pro90=) rs923654745 0.00002
NM_001482.3(GATM):c.408G>A (p.Thr136=) rs765074779 0.00002
NM_001482.3(GATM):c.494G>A (p.Ser165Asn) rs780398292 0.00002
NM_001482.3(GATM):c.582A>G (p.Arg194=) rs181118920 0.00002
NM_001482.3(GATM):c.644A>G (p.Lys215Arg) rs759012962 0.00002
NM_001482.3(GATM):c.655G>A (p.Ala219Thr) rs369580400 0.00002
NM_001482.3(GATM):c.813+6C>T rs771050735 0.00002
NM_001482.3(GATM):c.844C>T (p.Arg282Cys) rs766583032 0.00002
NM_001482.3(GATM):c.845G>A (p.Arg282His) rs371447931 0.00002
NM_001482.3(GATM):c.859C>T (p.Pro287Ser) rs773358289 0.00002
NM_001482.3(GATM):c.885C>A (p.Ser295=) rs3210029 0.00002
NM_001482.3(GATM):c.921C>T (p.Thr307=) rs778783157 0.00002
NM_001482.3(GATM):c.*713T>A rs1889360907 0.00001
NM_001482.3(GATM):c.101G>A (p.Arg34Gln) rs1889644849 0.00001
NM_001482.3(GATM):c.1037C>T (p.Pro346Leu) rs142814307 0.00001
NM_001482.3(GATM):c.104C>A (p.Thr35Asn) rs1331986925 0.00001
NM_001482.3(GATM):c.105T>C (p.Thr35=) rs372089316 0.00001
NM_001482.3(GATM):c.1085T>C (p.Val362Ala) rs1479969521 0.00001
NM_001482.3(GATM):c.1105C>T (p.Arg369Cys) rs768118194 0.00001
NM_001482.3(GATM):c.1166C>T (p.Thr389Ile) rs1450827920 0.00001
NM_001482.3(GATM):c.1170C>G (p.Thr390=) rs368737044 0.00001
NM_001482.3(GATM):c.1186C>A (p.Arg396Ser) rs1183535332 0.00001
NM_001482.3(GATM):c.1197T>C (p.Asn399=) rs1225580016 0.00001
NM_001482.3(GATM):c.1230C>T (p.Cys410=) rs767575428 0.00001
NM_001482.3(GATM):c.1231G>A (p.Asp411Asn) rs768171759 0.00001
NM_001482.3(GATM):c.1257G>A (p.Gln419=) rs774881489 0.00001
NM_001482.3(GATM):c.138C>T (p.Ser46=) rs1012951622 0.00001
NM_001482.3(GATM):c.153A>G (p.Ala51=) rs1045318003 0.00001
NM_001482.3(GATM):c.210C>T (p.Asn70=) rs776673535 0.00001
NM_001482.3(GATM):c.255C>T (p.Asn85=) rs1057522666 0.00001
NM_001482.3(GATM):c.294C>T (p.Asn98=) rs1271594468 0.00001
NM_001482.3(GATM):c.334G>A (p.Gly112Arg) rs1889504321 0.00001
NM_001482.3(GATM):c.366G>A (p.Lys122=) rs1456477402 0.00001
NM_001482.3(GATM):c.484+7G>A rs749748325 0.00001
NM_001482.3(GATM):c.505C>T (p.Arg169Ter) rs397514708 0.00001
NM_001482.3(GATM):c.540C>T (p.Ile180=) rs758473036 0.00001
NM_001482.3(GATM):c.565C>T (p.Arg189Cys) rs377578020 0.00001
NM_001482.3(GATM):c.567C>T (p.Arg189=) rs953018412 0.00001
NM_001482.3(GATM):c.581G>A (p.Arg194Gln) rs774017569 0.00001
NM_001482.3(GATM):c.584C>T (p.Ala195Val) rs752950030 0.00001
NM_001482.3(GATM):c.591G>A (p.Arg197=) rs1167013064 0.00001
NM_001482.3(GATM):c.598A>G (p.Ile200Val) rs1171642313 0.00001
NM_001482.3(GATM):c.603A>C (p.Lys201Asn) rs748600834 0.00001
NM_001482.3(GATM):c.616C>T (p.Arg206Cys) rs769023072 0.00001
NM_001482.3(GATM):c.617G>A (p.Arg206His) rs565509522 0.00001
NM_001482.3(GATM):c.621C>T (p.Gly207=) rs780300589 0.00001
NM_001482.3(GATM):c.622G>A (p.Ala208Thr) rs374059924 0.00001
NM_001482.3(GATM):c.625A>G (p.Lys209Glu) rs1393968087 0.00001
NM_001482.3(GATM):c.638C>T (p.Ala213Val) rs778893952 0.00001
NM_001482.3(GATM):c.675+9C>G rs766041671 0.00001
NM_001482.3(GATM):c.676-14C>A rs748127418 0.00001
NM_001482.3(GATM):c.710A>G (p.Lys237Arg) rs764877849 0.00001
NM_001482.3(GATM):c.724G>C (p.Gly242Arg) rs1236954285 0.00001
NM_001482.3(GATM):c.742G>A (p.Glu248Lys) rs1388250183 0.00001
NM_001482.3(GATM):c.76C>G (p.Arg26Gly) rs1032267288 0.00001
NM_001482.3(GATM):c.778C>T (p.Arg260Ter) rs775933965 0.00001
NM_001482.3(GATM):c.813+14G>A rs1889448449 0.00001
NM_001482.3(GATM):c.814-3C>T rs1262428448 0.00001
NM_001482.3(GATM):c.814-9T>C rs774614737 0.00001
NM_001482.3(GATM):c.852T>C (p.His284=) rs1057520287 0.00001
NM_001482.3(GATM):c.875A>G (p.His292Arg) rs747005297 0.00001
NM_001482.3(GATM):c.88G>A (p.Gly30Arg) rs1245821498 0.00001
NM_001482.3(GATM):c.911T>C (p.Ile304Thr) rs1334969328 0.00001
NM_001482.3(GATM):c.967C>G (p.Pro323Ala) rs777371743 0.00001
NM_001482.3(GATM):c.979-14T>C rs775560293 0.00001
NM_001482.3(GATM):c.985C>G (p.Leu329Val) rs373802463 0.00001
NC_000015.10:g.(?_45362089)_(45378473_?)dup
NC_000015.9:g.(?_45661504)_(45670651_?)del
NM_001482.3(GATM):c.*104A>G rs886051201
NM_001482.3(GATM):c.*125G>A rs143689218
NM_001482.3(GATM):c.*272C>T rs1889369976
NM_001482.3(GATM):c.*28C>T rs570994409
NM_001482.3(GATM):c.*555A>G rs1889364313
NM_001482.3(GATM):c.*595C>A rs75565512
NM_001482.3(GATM):c.*734_*735insCA rs35410548
NM_001482.3(GATM):c.*759C>T rs933437799
NM_001482.3(GATM):c.*792C>A rs564624011
NM_001482.3(GATM):c.1000G>A (p.Gly334Arg) rs749007953
NM_001482.3(GATM):c.1006A>G (p.Thr336Ala) rs1889422994
NM_001482.3(GATM):c.1007C>T (p.Thr336Ile) rs1481334244
NM_001482.3(GATM):c.1009A>G (p.Ile337Val) rs558560751
NM_001482.3(GATM):c.1017T>C (p.Thr339=)
NM_001482.3(GATM):c.1022C>T (p.Pro341Leu) rs1889422661
NM_001482.3(GATM):c.1032C>T (p.Ile344=)
NM_001482.3(GATM):c.1037C>A (p.Pro346Gln)
NM_001482.3(GATM):c.1041C>G (p.Asp347Glu)
NM_001482.3(GATM):c.1042+12T>A
NM_001482.3(GATM):c.1042+14del
NM_001482.3(GATM):c.1042+3A>G rs752016309
NM_001482.3(GATM):c.1042+4T>C rs1191624574
NM_001482.3(GATM):c.1042+5G>A
NM_001482.3(GATM):c.1043-10C>T
NM_001482.3(GATM):c.1043-12T>C
NM_001482.3(GATM):c.1043-12del
NM_001482.3(GATM):c.1043-13T>G
NM_001482.3(GATM):c.1043-15T>C rs1346435580
NM_001482.3(GATM):c.1043-17G>A
NM_001482.3(GATM):c.1043-17G>C
NM_001482.3(GATM):c.1043-19C>T
NM_001482.3(GATM):c.1043-19_1043-18del
NM_001482.3(GATM):c.1043-1G>C
NM_001482.3(GATM):c.1043-4T>G rs1889407357
NM_001482.3(GATM):c.104C>G (p.Thr35Ser) rs1331986925
NM_001482.3(GATM):c.1053C>G (p.Leu351=)
NM_001482.3(GATM):c.1053C>T (p.Leu351=)
NM_001482.3(GATM):c.1067A>G (p.Lys356Arg) rs1889406981
NM_001482.3(GATM):c.1079T>C (p.Met360Thr)
NM_001482.3(GATM):c.1079dup (p.Met360fs)
NM_001482.3(GATM):c.1082A>T (p.Asn361Ile) rs2140638679
NM_001482.3(GATM):c.1088T>C (p.Leu363Ser) rs753968876
NM_001482.3(GATM):c.108C>T (p.Phe36=)
NM_001482.3(GATM):c.1108G>A (p.Val370Ile)
NM_001482.3(GATM):c.1110T>C (p.Val370=)
NM_001482.3(GATM):c.1111dup (p.Met371fs) rs397515542
NM_001482.3(GATM):c.1116G>A (p.Val372=) rs780523679
NM_001482.3(GATM):c.1118A>G (p.Asp373Gly)
NM_001482.3(GATM):c.1124A>G (p.Asn375Ser)
NM_001482.3(GATM):c.112A>G (p.Ser38Gly) rs1889644507
NM_001482.3(GATM):c.1143G>A (p.Lys381=)
NM_001482.3(GATM):c.1144A>T (p.Met382Leu)
NM_001482.3(GATM):c.1149T>C (p.Phe383=)
NM_001482.3(GATM):c.114C>T (p.Ser38=) rs1555384721
NM_001482.3(GATM):c.1159+10A>G rs372945188
NM_001482.3(GATM):c.1159+19A>C
NM_001482.3(GATM):c.1159+19A>G rs187979088
NM_001482.3(GATM):c.1159+19A>T rs187979088
NM_001482.3(GATM):c.1159+20del
NM_001482.3(GATM):c.1159+9A>C rs2140638533
NM_001482.3(GATM):c.1159G>C (p.Gly387Arg) rs886051202
NM_001482.3(GATM):c.1160-14C>T rs2140636055
NM_001482.3(GATM):c.1160-17T>C
NM_001482.3(GATM):c.1160-18A>T
NM_001482.3(GATM):c.1160G>A (p.Gly387Asp)
NM_001482.3(GATM):c.1162A>G (p.Ile388Val) rs1170650328
NM_001482.3(GATM):c.1166C>G (p.Thr389Ser)
NM_001482.3(GATM):c.1186C>T (p.Arg396Cys)
NM_001482.3(GATM):c.1187G>A (p.Arg396His)
NM_001482.3(GATM):c.1187del (p.Arg396fs)
NM_001482.3(GATM):c.1190A>G (p.Asn397Ser) rs2140635964
NM_001482.3(GATM):c.1194C>T (p.Ala398=) rs2140635956
NM_001482.3(GATM):c.1196A>G (p.Asn399Ser)
NM_001482.3(GATM):c.1200C>T (p.Ser400=)
NM_001482.3(GATM):c.1201C>T (p.Leu401=)
NM_001482.3(GATM):c.1209del (p.Gly404fs) rs1566838819
NM_001482.3(GATM):c.120G>C (p.Gln40His)
NM_001482.3(GATM):c.1218T>C (p.His406=)
NM_001482.3(GATM):c.1227C>G (p.Thr409=)
NM_001482.3(GATM):c.1227C>T (p.Thr409=) rs1555383902
NM_001482.3(GATM):c.122C>T (p.Ala41Val) rs2140657480
NM_001482.3(GATM):c.1234G>A (p.Val412Ile)
NM_001482.3(GATM):c.1237C>T (p.Arg413Trp) rs1244824806
NM_001482.3(GATM):c.1238G>A (p.Arg413Gln)
NM_001482.3(GATM):c.1239G>C (p.Arg413=) rs550159982
NM_001482.3(GATM):c.123A>G (p.Ala41=)
NM_001482.3(GATM):c.1241G>A (p.Arg414His)
NM_001482.3(GATM):c.1243C>T (p.Arg415Ter) rs1357374472
NM_001482.3(GATM):c.1245A>C (p.Arg415=) rs1057522467
NM_001482.3(GATM):c.1245A>G (p.Arg415=)
NM_001482.3(GATM):c.1248C>A (p.Gly416=)
NM_001482.3(GATM):c.124G>A (p.Ala42Thr)
NM_001482.3(GATM):c.1254A>G (p.Leu418=) rs1595481441
NM_001482.3(GATM):c.1264T>C (p.Leu422=) rs2140635755
NM_001482.3(GATM):c.1269C>G (p.Asp423Glu) rs1566838768
NM_001482.3(GATM):c.128C>G (p.Thr43Arg) rs868522260
NM_001482.3(GATM):c.128C>T (p.Thr43Met) rs868522260
NM_001482.3(GATM):c.133T>C (p.Ser45Pro)
NM_001482.3(GATM):c.133T>G (p.Ser45Ala)
NM_001482.3(GATM):c.137C>G (p.Ser46Cys) rs199530681
NM_001482.3(GATM):c.139C>A (p.Arg47=)
NM_001482.3(GATM):c.144C>T (p.Asn48=)
NM_001482.3(GATM):c.145T>G (p.Ser49Ala) rs796052537
NM_001482.3(GATM):c.159C>T (p.Asp53=) rs2140657387
NM_001482.3(GATM):c.167C>A (p.Ala56Asp)
NM_001482.3(GATM):c.175C>T (p.Pro59Ser)
NM_001482.3(GATM):c.181C>G (p.Pro61Ala) rs765462268
NM_001482.3(GATM):c.183C>G (p.Pro61=) rs1889642649
NM_001482.3(GATM):c.189C>T (p.Asp63=)
NM_001482.3(GATM):c.191G>T (p.Cys64Phe)
NM_001482.3(GATM):c.192C>G (p.Cys64Trp)
NM_001482.3(GATM):c.204T>C (p.Ser68=) rs2140657290
NM_001482.3(GATM):c.207C>A (p.Tyr69Ter)
NM_001482.3(GATM):c.216G>A (p.Trp72Ter) rs1566842679
NM_001482.3(GATM):c.217G>A (p.Asp73Asn) rs1889642061
NM_001482.3(GATM):c.219C>T (p.Asp73=)
NM_001482.3(GATM):c.220C>A (p.Pro74Thr)
NM_001482.3(GATM):c.221C>T (p.Pro74Leu)
NM_001482.3(GATM):c.222C>G (p.Pro74=)
NM_001482.3(GATM):c.222C>T (p.Pro74=) rs774485349
NM_001482.3(GATM):c.223T>A (p.Leu75Ile)
NM_001482.3(GATM):c.223T>C (p.Leu75=)
NM_001482.3(GATM):c.232G>C (p.Val78Leu)
NM_001482.3(GATM):c.234G>A (p.Val78=) rs1213691165
NM_001482.3(GATM):c.243C>T (p.Gly81=) rs1889641457
NM_001482.3(GATM):c.245G>A (p.Arg82Lys) rs1595485790
NM_001482.3(GATM):c.249A>G (p.Ala83=)
NM_001482.3(GATM):c.258C>T (p.Ala86=) rs773158424
NM_001482.3(GATM):c.261T>C (p.Cys87=)
NM_001482.3(GATM):c.269C>G (p.Pro90Arg) rs1261342154
NM_001482.3(GATM):c.271T>A (p.Phe91Ile)
NM_001482.3(GATM):c.280G>A (p.Glu94Lys)
NM_001482.3(GATM):c.288+10G>C
NM_001482.3(GATM):c.288+11G>T
NM_001482.3(GATM):c.288+15T>C
NM_001482.3(GATM):c.288+184_288+195del rs6145546
NM_001482.3(GATM):c.288+18A>C
NM_001482.3(GATM):c.288+2_288+11del
NM_001482.3(GATM):c.288+9A>G
NM_001482.3(GATM):c.289-12T>G
NM_001482.3(GATM):c.289-1_292del
NM_001482.3(GATM):c.289-6T>C
NM_001482.3(GATM):c.290C>G (p.Ala97Gly)
NM_001482.3(GATM):c.297A>G (p.Thr99=) rs1445305823
NM_001482.3(GATM):c.297A>T (p.Thr99=)
NM_001482.3(GATM):c.300T>C (p.Tyr100=)
NM_001482.3(GATM):c.306G>C (p.Lys102Asn) rs376335787
NM_001482.3(GATM):c.314C>T (p.Pro105Leu) rs147804855
NM_001482.3(GATM):c.322C>G (p.Gln108Glu)
NM_001482.3(GATM):c.323A>G (p.Gln108Arg) rs1398822076
NM_001482.3(GATM):c.330A>C (p.Gln110His) rs1288775
NM_001482.3(GATM):c.337C>G (p.His113Asp) rs1889504232
NM_001482.3(GATM):c.347C>T (p.Pro116Leu)
NM_001482.3(GATM):c.350A>G (p.Lys117Arg) rs1472551759
NM_001482.3(GATM):c.355C>A (p.His119Asn)
NM_001482.3(GATM):c.357T>C (p.His119=) rs2140646869
NM_001482.3(GATM):c.368C>T (p.Ala123Val)
NM_001482.3(GATM):c.370G>A (p.Val124Ile)
NM_001482.3(GATM):c.371T>C (p.Val124Ala) rs1889503302
NM_001482.3(GATM):c.378A>T (p.Glu126Asp) rs1889503051
NM_001482.3(GATM):c.380T>C (p.Ile127Thr) rs1896556912
NM_001482.3(GATM):c.387A>T (p.Glu129Asp) rs756420233
NM_001482.3(GATM):c.393C>T (p.Cys131=) rs2140646762
NM_001482.3(GATM):c.394A>C (p.Asn132His) rs767740292
NM_001482.3(GATM):c.395A>C (p.Asn132Thr) rs759658712
NM_001482.3(GATM):c.395A>G (p.Asn132Ser) rs759658712
NM_001482.3(GATM):c.396T>C (p.Asn132=) rs1454154614
NM_001482.3(GATM):c.396T>G (p.Asn132Lys) rs1454154614
NM_001482.3(GATM):c.401T>G (p.Leu134Ter) rs2140646735
NM_001482.3(GATM):c.405A>G (p.Lys135=) rs1889502312
NM_001482.3(GATM):c.420A>G (p.Thr140=) rs1163045526
NM_001482.3(GATM):c.427A>C (p.Arg143=)
NM_001482.3(GATM):c.429G>A (p.Arg143=)
NM_001482.3(GATM):c.433G>A (p.Asp145Asn) rs1555384309
NM_001482.3(GATM):c.434A>C (p.Asp145Ala)
NM_001482.3(GATM):c.436C>A (p.Pro146Thr)
NM_001482.3(GATM):c.438C>T (p.Pro146=)
NM_001482.3(GATM):c.440T>C (p.Ile147Thr)
NM_001482.3(GATM):c.444C>G (p.Asp148Glu) rs1889500716
NM_001482.3(GATM):c.444C>T (p.Asp148=)
NM_001482.3(GATM):c.446G>A (p.Trp149Ter) rs80338737
NM_001482.3(GATM):c.448T>G (p.Ser150Ala)
NM_001482.3(GATM):c.450A>G (p.Ser150=)
NM_001482.3(GATM):c.460A>G (p.Lys154Glu)
NM_001482.3(GATM):c.464C>G (p.Thr155Ser)
NM_001482.3(GATM):c.466C>T (p.Pro156Ser) rs771614762
NM_001482.3(GATM):c.472T>C (p.Phe158Leu)
NM_001482.3(GATM):c.482C>T (p.Thr161Met)
NM_001482.3(GATM):c.483G>A (p.Thr161=) rs771343478
NM_001482.3(GATM):c.483G>T (p.Thr161=) rs771343478
NM_001482.3(GATM):c.484+11T>C
NM_001482.3(GATM):c.484+13A>G
NM_001482.3(GATM):c.484+15A>G
NM_001482.3(GATM):c.484+17A>G
NM_001482.3(GATM):c.484+1G>T rs80338738
NM_001482.3(GATM):c.484+3A>G rs1595483673
NM_001482.3(GATM):c.485-11dup rs758611156
NM_001482.3(GATM):c.485-17A>G
NM_001482.3(GATM):c.485-8T>G
NM_001482.3(GATM):c.506G>A (p.Arg169Gln)
NM_001482.3(GATM):c.511A>T (p.Ile171Phe) rs747203599
NM_001482.3(GATM):c.516G>T (p.Leu172=)
NM_001482.3(GATM):c.522T>C (p.Val174=)
NM_001482.3(GATM):c.541G>A (p.Glu181Lys) rs376982466
NM_001482.3(GATM):c.547C>T (p.Pro183Ser)
NM_001482.3(GATM):c.551del (p.Met184fs)
NM_001482.3(GATM):c.553G>C (p.Ala185Pro) rs2140644920
NM_001482.3(GATM):c.553G>T (p.Ala185Ser) rs2140644920
NM_001482.3(GATM):c.555A>G (p.Ala185=)
NM_001482.3(GATM):c.564A>C (p.Ser188=)
NM_001482.3(GATM):c.566G>T (p.Arg189Leu)
NM_001482.3(GATM):c.576G>A (p.Glu192=) rs759135975
NM_001482.3(GATM):c.580C>T (p.Arg194Ter)
NM_001482.3(GATM):c.585G>A (p.Ala195=) rs773913371
NM_001482.3(GATM):c.585G>C (p.Ala195=)
NM_001482.3(GATM):c.588C>T (p.Tyr196=)
NM_001482.3(GATM):c.591G>T (p.Arg197Ser) rs1167013064
NM_001482.3(GATM):c.592T>G (p.Ser198Ala) rs796052535
NM_001482.3(GATM):c.595A>G (p.Ile199Val)
NM_001482.3(GATM):c.608A>C (p.Tyr203Ser) rs397514709
NM_001482.3(GATM):c.614A>C (p.His205Pro)
NM_001482.3(GATM):c.615C>T (p.His205=)
NM_001482.3(GATM):c.627G>A (p.Lys209=)
NM_001482.3(GATM):c.629G>A (p.Trp210Ter)
NM_001482.3(GATM):c.631A>G (p.Thr211Ala)
NM_001482.3(GATM):c.633A>G (p.Thr211=) rs1889477759
NM_001482.3(GATM):c.634A>G (p.Thr212Ala)
NM_001482.3(GATM):c.646C>T (p.Pro216Ser) rs2140644628
NM_001482.3(GATM):c.652A>G (p.Met218Val)
NM_001482.3(GATM):c.654G>A (p.Met218Ile) rs1555384217
NM_001482.3(GATM):c.663G>A (p.Glu221=)
NM_001482.3(GATM):c.675+10T>A
NM_001482.3(GATM):c.675+14T>A
NM_001482.3(GATM):c.675+18G>A rs2140644526
NM_001482.3(GATM):c.675+3G>C rs1049378713
NM_001482.3(GATM):c.675+8C>A
NM_001482.3(GATM):c.675+8C>G
NM_001482.3(GATM):c.676-14C>T
NM_001482.3(GATM):c.676-16T>C
NM_001482.3(GATM):c.676-18C>T
NM_001482.3(GATM):c.676-1G>C
NM_001482.3(GATM):c.676-27GT[3]
NM_001482.3(GATM):c.676-5A>G
NM_001482.3(GATM):c.676G>T (p.Asp226Tyr)
NM_001482.3(GATM):c.683C>G (p.Pro228Arg)
NM_001482.3(GATM):c.684C>T (p.Pro228=) rs1251849022
NM_001482.3(GATM):c.685A>G (p.Ile229Val) rs570670146
NM_001482.3(GATM):c.688C>T (p.His230Tyr)
NM_001482.3(GATM):c.693T>C (p.Ser231=)
NM_001482.3(GATM):c.699A>G (p.Glu233=)
NM_001482.3(GATM):c.70-10T>A
NM_001482.3(GATM):c.70-19T>C
NM_001482.3(GATM):c.70-20C>G
NM_001482.3(GATM):c.70-2A>C
NM_001482.3(GATM):c.70-5G>A rs752014055
NM_001482.3(GATM):c.70-8C>A
NM_001482.3(GATM):c.710A>T (p.Lys237Ile)
NM_001482.3(GATM):c.712T>C (p.Leu238=)
NM_001482.3(GATM):c.715G>T (p.Ala239Ser)
NM_001482.3(GATM):c.724G>A (p.Gly242Arg) rs1236954285
NM_001482.3(GATM):c.724_725del (p.Gly242fs) rs2140641896
NM_001482.3(GATM):c.733G>A (p.Val245Met)
NM_001482.3(GATM):c.741T>C (p.Thr247=)
NM_001482.3(GATM):c.74G>A (p.Gly25Glu)
NM_001482.3(GATM):c.752C>T (p.Pro251Leu) rs1424827158
NM_001482.3(GATM):c.753A>T (p.Pro251=)
NM_001482.3(GATM):c.756C>T (p.Cys252=)
NM_001482.3(GATM):c.759T>C (p.Phe253=)
NM_001482.3(GATM):c.76C>T (p.Arg26Ter)
NM_001482.3(GATM):c.771C>T (p.Asp257=)
NM_001482.3(GATM):c.778C>A (p.Arg260=)
NM_001482.3(GATM):c.779G>A (p.Arg260Gln) rs1364915703
NM_001482.3(GATM):c.77G>A (p.Arg26Gln)
NM_001482.3(GATM):c.77G>T (p.Arg26Leu)
NM_001482.3(GATM):c.786A>G (p.Gly262=) rs2140641821
NM_001482.3(GATM):c.789A>C (p.Arg263Ser)
NM_001482.3(GATM):c.792T>G (p.Asp264Glu)
NM_001482.3(GATM):c.798T>C (p.Phe266=) rs2140641810
NM_001482.3(GATM):c.798T>G (p.Phe266Leu)
NM_001482.3(GATM):c.801A>G (p.Ala267=)
NM_001482.3(GATM):c.813+11G>A rs1172869031
NM_001482.3(GATM):c.813+11G>C
NM_001482.3(GATM):c.813+16C>T rs768644583
NM_001482.3(GATM):c.813+7G>A
NM_001482.3(GATM):c.813+7G>C rs1204672868
NM_001482.3(GATM):c.813+7G>T rs1204672868
NM_001482.3(GATM):c.814-12T>C rs1595482667
NM_001482.3(GATM):c.814-13_814-10del rs2140641622
NM_001482.3(GATM):c.814-14T>C
NM_001482.3(GATM):c.814-17C>G rs368314780
NM_001482.3(GATM):c.814-19G>T
NM_001482.3(GATM):c.827T>G (p.Leu276Arg) rs1889446108
NM_001482.3(GATM):c.831C>T (p.Gly277=)
NM_001482.3(GATM):c.832A>G (p.Ile278Val)
NM_001482.3(GATM):c.843G>A (p.Met281Ile)
NM_001482.3(GATM):c.850C>T (p.His284Tyr)
NM_001482.3(GATM):c.855T>C (p.Leu285=)
NM_001482.3(GATM):c.85A>G (p.Thr29Ala) rs763273843
NM_001482.3(GATM):c.865T>C (p.Tyr289His)
NM_001482.3(GATM):c.867C>T (p.Tyr289=)
NM_001482.3(GATM):c.877A>T (p.Ile293Phe) rs2140641528
NM_001482.3(GATM):c.878T>C (p.Ile293Thr) rs1595482625
NM_001482.3(GATM):c.880A>G (p.Ile294Val)
NM_001482.3(GATM):c.882C>T (p.Ile294=)
NM_001482.3(GATM):c.892G>A (p.Asp298Asn)
NM_001482.3(GATM):c.897C>T (p.Pro299=) rs2140641504
NM_001482.3(GATM):c.89G>T (p.Gly30Val) rs773473195
NM_001482.3(GATM):c.905T>C (p.Met302Thr)
NM_001482.3(GATM):c.909T>C (p.His303=) rs2140641491
NM_001482.3(GATM):c.913_918del (p.Asp305_Ala306del) rs1889444227
NM_001482.3(GATM):c.917C>G (p.Ala306Gly)
NM_001482.3(GATM):c.924C>G (p.Phe308Leu) rs2140641473
NM_001482.3(GATM):c.930C>G (p.Ile310Met)
NM_001482.3(GATM):c.930C>T (p.Ile310=) rs2140641456
NM_001482.3(GATM):c.932T>C (p.Ile311Thr) rs1460902723
NM_001482.3(GATM):c.941G>C (p.Gly314Ala) rs1889443912
NM_001482.3(GATM):c.946G>A (p.Val316Met) rs1889443760
NM_001482.3(GATM):c.959del (p.Pro320fs) rs1889443484
NM_001482.3(GATM):c.964C>A (p.Arg322=)
NM_001482.3(GATM):c.969A>G (p.Pro323=)
NM_001482.3(GATM):c.975C>G (p.His325Gln)
NM_001482.3(GATM):c.978+12C>A
NM_001482.3(GATM):c.978+16G>C
NM_001482.3(GATM):c.978+17del
NM_001482.3(GATM):c.978+4A>G rs370363696
NM_001482.3(GATM):c.978+9T>C rs1555384111
NM_001482.3(GATM):c.979-10G>T
NM_001482.3(GATM):c.979-11del rs202176047
NM_001482.3(GATM):c.979-12T>C
NM_001482.3(GATM):c.979-12_979-11del rs202176047
NM_001482.3(GATM):c.979-15T>C
NM_001482.3(GATM):c.979-18T>A
NM_001482.3(GATM):c.979-18T>G
NM_001482.3(GATM):c.979-18dup rs202176047
NM_001482.3(GATM):c.979-19del
NM_001482.3(GATM):c.979-19dup
NM_001482.3(GATM):c.979-1_979insT
NM_001482.3(GATM):c.979-9G>A
NM_001482.3(GATM):c.984T>C (p.Asp328=) rs1203613389
NM_001482.3(GATM):c.985C>A (p.Leu329Ile)
NM_001482.3(GATM):c.989T>C (p.Phe330Ser) rs2140639842
NM_001482.3(GATM):c.990C>T (p.Phe330=)
NM_001482.3(GATM):c.991A>C (p.Lys331Gln) rs1566839535
NM_001482.3(GATM):c.992A>G (p.Lys331Arg)
NM_001482.3(GATM):c.998C>T (p.Ala333Val) rs1156646457

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