ClinVar Miner

List of variants reported as uncertain significance for AGAT deficiency by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 235
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001482.3(GATM):c.701A>G (p.Asp234Gly) rs146057680 0.00022
NM_001482.3(GATM):c.692C>G (p.Ser231Cys) rs202225656 0.00016
NM_001482.3(GATM):c.277A>G (p.Ile93Val) rs34991226 0.00006
NM_001482.3(GATM):c.61G>A (p.Gly21Arg) rs903485357 0.00005
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.338A>G (p.His113Arg) rs910754475 0.00004
NM_001482.3(GATM):c.990C>G (p.Phe330Leu) rs770808654 0.00004
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.494G>A (p.Ser165Asn) rs780398292 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.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.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.1186C>A (p.Arg396Ser) rs1183535332 0.00001
NM_001482.3(GATM):c.1231G>A (p.Asp411Asn) rs768171759 0.00001
NM_001482.3(GATM):c.334G>A (p.Gly112Arg) rs1889504321 0.00001
NM_001482.3(GATM):c.565C>T (p.Arg189Cys) rs377578020 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.598A>G (p.Ile200Val) rs1171642313 0.00001
NM_001482.3(GATM):c.603A>C (p.Lys201Asn) rs748600834 0.00001
NM_001482.3(GATM):c.60C>G (p.Ile20Met) rs1000621646 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.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.67C>T (p.Arg23Trp) rs1240389133 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.7C>G (p.Arg3Gly) rs796052538 0.00001
NM_001482.3(GATM):c.814-3C>T rs1262428448 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.967C>G (p.Pro323Ala) rs777371743 0.00001
NC_000015.10:g.(?_45362089)_(45378473_?)dup
NC_000015.9:g.(?_44855319)_(45898712_?)dup
NC_000015.9:g.(?_45152372)_(45670651_?)dup
NC_000015.9:g.(?_45152372)_(45670671_?)dup
NC_000015.9:g.(?_45656975)_(45884494_?)dup
NM_001482.3(GATM):c.1000G>A (p.Gly334Arg) rs749007953
NM_001482.3(GATM):c.1009A>G (p.Ile337Val) rs558560751
NM_001482.3(GATM):c.1010_1015del (p.Ile337_Ile338del)
NM_001482.3(GATM):c.1037C>A (p.Pro346Gln)
NM_001482.3(GATM):c.1041C>G (p.Asp347Glu)
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.104C>G (p.Thr35Ser) rs1331986925
NM_001482.3(GATM):c.1067A>G (p.Lys356Arg) rs1889406981
NM_001482.3(GATM):c.1079T>C (p.Met360Thr)
NM_001482.3(GATM):c.107T>A (p.Phe36Tyr)
NM_001482.3(GATM):c.1082A>T (p.Asn361Ile) rs2140638679
NM_001482.3(GATM):c.10G>A (p.Val4Met)
NM_001482.3(GATM):c.10G>C (p.Val4Leu)
NM_001482.3(GATM):c.1108G>A (p.Val370Ile)
NM_001482.3(GATM):c.1115T>C (p.Val372Ala)
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.1144A>T (p.Met382Leu)
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.1196A>G (p.Asn399Ser)
NM_001482.3(GATM):c.1209del (p.Gly404fs) rs1566838819
NM_001482.3(GATM):c.120G>C (p.Gln40His)
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.1241G>A (p.Arg414His)
NM_001482.3(GATM):c.1243C>T (p.Arg415Ter) rs1357374472
NM_001482.3(GATM):c.124G>A (p.Ala42Thr)
NM_001482.3(GATM):c.125C>T (p.Ala42Val)
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.145T>G (p.Ser49Ala) rs796052537
NM_001482.3(GATM):c.148T>A (p.Cys50Ser)
NM_001482.3(GATM):c.14G>T (p.Arg5Leu)
NM_001482.3(GATM):c.167C>A (p.Ala56Asp)
NM_001482.3(GATM):c.170C>A (p.Thr57Asn)
NM_001482.3(GATM):c.175C>T (p.Pro59Ser)
NM_001482.3(GATM):c.191G>T (p.Cys64Phe)
NM_001482.3(GATM):c.192C>G (p.Cys64Trp)
NM_001482.3(GATM):c.217G>A (p.Asp73Asn) rs1889642061
NM_001482.3(GATM):c.220C>A (p.Pro74Thr)
NM_001482.3(GATM):c.221C>T (p.Pro74Leu)
NM_001482.3(GATM):c.223T>A (p.Leu75Ile)
NM_001482.3(GATM):c.232G>C (p.Val78Leu)
NM_001482.3(GATM):c.239T>C (p.Val80Ala)
NM_001482.3(GATM):c.23G>A (p.Arg8His) rs1889681963
NM_001482.3(GATM):c.245G>A (p.Arg82Lys) rs1595485790
NM_001482.3(GATM):c.269C>G (p.Pro90Arg) rs1261342154
NM_001482.3(GATM):c.26G>A (p.Gly9Asp)
NM_001482.3(GATM):c.271T>A (p.Phe91Ile)
NM_001482.3(GATM):c.280G>A (p.Glu94Lys)
NM_001482.3(GATM):c.290C>G (p.Ala97Gly)
NM_001482.3(GATM):c.306G>C (p.Lys102Asn) rs376335787
NM_001482.3(GATM):c.322C>G (p.Gln108Glu)
NM_001482.3(GATM):c.323A>G (p.Gln108Arg) rs1398822076
NM_001482.3(GATM):c.32G>C (p.Ser11Thr)
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.361A>G (p.Lys121Glu)
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.37G>A (p.Gly13Ser) rs1566843333
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.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>G (p.Asn132Lys) rs1454154614
NM_001482.3(GATM):c.420A>G (p.Thr140=) rs1163045526
NM_001482.3(GATM):c.433G>A (p.Asp145Asn) rs1555384309
NM_001482.3(GATM):c.433G>C (p.Asp145His) rs796052539
NM_001482.3(GATM):c.434A>C (p.Asp145Ala)
NM_001482.3(GATM):c.436C>A (p.Pro146Thr)
NM_001482.3(GATM):c.440T>C (p.Ile147Thr)
NM_001482.3(GATM):c.444C>G (p.Asp148Glu) rs1889500716
NM_001482.3(GATM):c.448T>G (p.Ser150Ala)
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>C (p.Thr161=)
NM_001482.3(GATM):c.483G>T (p.Thr161=) rs771343478
NM_001482.3(GATM):c.484+3A>G rs1595483673
NM_001482.3(GATM):c.491A>G (p.Tyr164Cys)
NM_001482.3(GATM):c.49G>T (p.Val17Leu)
NM_001482.3(GATM):c.4C>G (p.Leu2Val)
NM_001482.3(GATM):c.506G>A (p.Arg169Gln)
NM_001482.3(GATM):c.506G>C (p.Arg169Pro)
NM_001482.3(GATM):c.511A>T (p.Ile171Phe) rs747203599
NM_001482.3(GATM):c.530A>G (p.Asn177Ser)
NM_001482.3(GATM):c.541G>A (p.Glu181Lys) rs376982466
NM_001482.3(GATM):c.547C>T (p.Pro183Ser)
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.559C>T (p.Arg187Cys)
NM_001482.3(GATM):c.560G>A (p.Arg187His)
NM_001482.3(GATM):c.566G>T (p.Arg189Leu)
NM_001482.3(GATM):c.56A>G (p.Tyr19Cys)
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.614A>C (p.His205Pro)
NM_001482.3(GATM):c.631A>G (p.Thr211Ala)
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.675+3G>C rs1049378713
NM_001482.3(GATM):c.675_675+3dup
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.688C>T (p.His230Tyr)
NM_001482.3(GATM):c.68G>C (p.Arg23Pro) rs370155767
NM_001482.3(GATM):c.69+4C>T
NM_001482.3(GATM):c.69+5G>A
NM_001482.3(GATM):c.692C>A (p.Ser231Tyr)
NM_001482.3(GATM):c.70-5G>A rs752014055
NM_001482.3(GATM):c.710A>T (p.Lys237Ile)
NM_001482.3(GATM):c.715G>T (p.Ala239Ser)
NM_001482.3(GATM):c.724G>A (p.Gly242Arg) rs1236954285
NM_001482.3(GATM):c.727A>G (p.Lys243Glu)
NM_001482.3(GATM):c.733G>A (p.Val245Met)
NM_001482.3(GATM):c.74G>A (p.Gly25Glu)
NM_001482.3(GATM):c.752C>T (p.Pro251Leu) rs1424827158
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.789A>C (p.Arg263Ser)
NM_001482.3(GATM):c.789A>T (p.Arg263Ser)
NM_001482.3(GATM):c.792T>G (p.Asp264Glu)
NM_001482.3(GATM):c.798T>G (p.Phe266Leu)
NM_001482.3(GATM):c.811C>A (p.Gln271Lys)
NM_001482.3(GATM):c.827T>G (p.Leu276Arg) rs1889446108
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.85A>G (p.Thr29Ala) rs763273843
NM_001482.3(GATM):c.865T>C (p.Tyr289His)
NM_001482.3(GATM):c.869G>A (p.Arg290Lys)
NM_001482.3(GATM):c.871G>A (p.Val291Met)
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.892G>A (p.Asp298Asn)
NM_001482.3(GATM):c.89G>T (p.Gly30Val) rs773473195
NM_001482.3(GATM):c.905T>C (p.Met302Thr)
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.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.975C>G (p.His325Gln)
NM_001482.3(GATM):c.978+4A>G rs370363696
NM_001482.3(GATM):c.985C>A (p.Leu329Ile)
NM_001482.3(GATM):c.989T>C (p.Phe330Ser) rs2140639842
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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