List of variants reported as likely benign for AGAT deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 248

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HGVS	dbSNP	gnomAD frequency
NM_001482.3(GATM):c.69+13C>T	rs573273215	0.00101
NM_001482.3(GATM):c.484+19C>T	rs374556262	0.00026
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.1041C>T (p.Asp347=)	rs139599307	0.00007
NM_001482.3(GATM):c.277A>G (p.Ile93Val)	rs34991226	0.00006
NM_001482.3(GATM):c.1043-3T>C	rs772985563	0.00004
NM_001482.3(GATM):c.156T>A (p.Ala52=)	rs185569234	0.00004
NM_001482.3(GATM):c.485-18A>G	rs770332433	0.00004
NM_001482.3(GATM):c.57C>T (p.Tyr19=)	rs1052590218	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.1159+14A>G	rs368974196	0.00003
NM_001482.3(GATM):c.1239G>A (p.Arg413=)	rs550159982	0.00003
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.582A>G (p.Arg194=)	rs181118920	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.105T>C (p.Thr35=)	rs372089316	0.00001
NM_001482.3(GATM):c.1170C>G (p.Thr390=)	rs368737044	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.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.30G>T (p.Gly10=)	rs929095379	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.48G>T (p.Ala16=)	rs587780951	0.00001
NM_001482.3(GATM):c.540C>T (p.Ile180=)	rs758473036	0.00001
NM_001482.3(GATM):c.567C>T (p.Arg189=)	rs953018412	0.00001
NM_001482.3(GATM):c.591G>A (p.Arg197=)	rs1167013064	0.00001
NM_001482.3(GATM):c.621C>T (p.Gly207=)	rs780300589	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.813+14G>A	rs1889448449	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.979-14T>C	rs775560293	0.00001
NM_001482.3(GATM):c.9G>A (p.Arg3=)	rs1471775361	0.00001
NM_001482.3(GATM):c.*28C>T	rs570994409
NM_001482.3(GATM):c.1017T>C (p.Thr339=)
NM_001482.3(GATM):c.1032C>T (p.Ile344=)
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+8T>C
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.1043-4T>G	rs1889407357
NM_001482.3(GATM):c.1053C>G (p.Leu351=)
NM_001482.3(GATM):c.1053C>T (p.Leu351=)
NM_001482.3(GATM):c.1068A>G (p.Lys356=)
NM_001482.3(GATM):c.108C>T (p.Phe36=)
NM_001482.3(GATM):c.1110T>C (p.Val370=)
NM_001482.3(GATM):c.1116G>A (p.Val372=)	rs780523679
NM_001482.3(GATM):c.1143G>A (p.Lys381=)
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+20del
NM_001482.3(GATM):c.1159+9A>C	rs2140638533
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.1194C>T (p.Ala398=)	rs2140635956
NM_001482.3(GATM):c.1200C>T (p.Ser400=)
NM_001482.3(GATM):c.1201C>T (p.Leu401=)
NM_001482.3(GATM):c.1209A>G (p.Gly403=)
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.1239G>C (p.Arg413=)	rs550159982
NM_001482.3(GATM):c.123A>G (p.Ala41=)
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.1251C>G (p.Thr417=)
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.139C>A (p.Arg47=)
NM_001482.3(GATM):c.144C>T (p.Asn48=)
NM_001482.3(GATM):c.159C>T (p.Asp53=)	rs2140657387
NM_001482.3(GATM):c.162C>T (p.Asp54=)
NM_001482.3(GATM):c.168C>T (p.Ala56=)
NM_001482.3(GATM):c.183C>G (p.Pro61=)	rs1889642649
NM_001482.3(GATM):c.189C>T (p.Asp63=)
NM_001482.3(GATM):c.18T>C (p.Cys6=)
NM_001482.3(GATM):c.192C>T (p.Cys64=)
NM_001482.3(GATM):c.204T>C (p.Ser68=)	rs2140657290
NM_001482.3(GATM):c.219C>T (p.Asp73=)
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>C (p.Leu75=)
NM_001482.3(GATM):c.234G>A (p.Val78=)	rs1213691165
NM_001482.3(GATM):c.234G>C (p.Val78=)
NM_001482.3(GATM):c.243C>T (p.Gly81=)	rs1889641457
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.288+10G>C
NM_001482.3(GATM):c.288+11G>T
NM_001482.3(GATM):c.288+12C>T
NM_001482.3(GATM):c.288+15T>C
NM_001482.3(GATM):c.288+17C>T
NM_001482.3(GATM):c.288+18A>C
NM_001482.3(GATM):c.288+20A>G	rs1057520509
NM_001482.3(GATM):c.288+9A>G
NM_001482.3(GATM):c.289-12T>G
NM_001482.3(GATM):c.289-6T>C
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.30G>A (p.Gly10=)
NM_001482.3(GATM):c.30G>C (p.Gly10=)
NM_001482.3(GATM):c.330A>C (p.Gln110His)	rs1288775
NM_001482.3(GATM):c.357T>C (p.His119=)	rs2140646869
NM_001482.3(GATM):c.36C>T (p.Arg12=)
NM_001482.3(GATM):c.393C>T (p.Cys131=)	rs2140646762
NM_001482.3(GATM):c.396T>C (p.Asn132=)	rs1454154614
NM_001482.3(GATM):c.39C>A (p.Gly13=)
NM_001482.3(GATM):c.405A>G (p.Lys135=)	rs1889502312
NM_001482.3(GATM):c.427A>C (p.Arg143=)
NM_001482.3(GATM):c.429G>A (p.Arg143=)
NM_001482.3(GATM):c.42C>G (p.Ala14=)	rs892312757
NM_001482.3(GATM):c.438C>T (p.Pro146=)
NM_001482.3(GATM):c.444C>T (p.Asp148=)
NM_001482.3(GATM):c.450A>G (p.Ser150=)
NM_001482.3(GATM):c.483G>A (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+18A>T
NM_001482.3(GATM):c.485-17A>G
NM_001482.3(GATM):c.485-8T>G
NM_001482.3(GATM):c.48G>A (p.Ala16=)	rs587780951
NM_001482.3(GATM):c.516G>T (p.Leu172=)
NM_001482.3(GATM):c.51G>A (p.Val17=)
NM_001482.3(GATM):c.522T>C (p.Val174=)
NM_001482.3(GATM):c.555A>G (p.Ala185=)
NM_001482.3(GATM):c.564A>C (p.Ser188=)
NM_001482.3(GATM):c.576G>A (p.Glu192=)	rs759135975
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.60C>T (p.Ile20=)
NM_001482.3(GATM):c.615C>T (p.His205=)
NM_001482.3(GATM):c.627G>A (p.Lys209=)
NM_001482.3(GATM):c.633A>G (p.Thr211=)	rs1889477759
NM_001482.3(GATM):c.63A>T (p.Gly21=)
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+15A>G
NM_001482.3(GATM):c.675+18G>A	rs2140644526
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.676-27GT[3]
NM_001482.3(GATM):c.684C>T (p.Pro228=)	rs1251849022
NM_001482.3(GATM):c.69+10C>T
NM_001482.3(GATM):c.69+13C>G
NM_001482.3(GATM):c.69+14C>G
NM_001482.3(GATM):c.69+14C>T
NM_001482.3(GATM):c.69+15G>A
NM_001482.3(GATM):c.69+15G>T
NM_001482.3(GATM):c.69+17C>G
NM_001482.3(GATM):c.69+17C>T
NM_001482.3(GATM):c.69+20C>A
NM_001482.3(GATM):c.69+20C>T
NM_001482.3(GATM):c.69+8C>G	rs1044785525
NM_001482.3(GATM):c.69+8C>T	rs1044785525
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.70-15C>A
NM_001482.3(GATM):c.70-19T>C
NM_001482.3(GATM):c.70-20C>G
NM_001482.3(GATM):c.70-8C>A
NM_001482.3(GATM):c.712T>C (p.Leu238=)
NM_001482.3(GATM):c.741T>C (p.Thr247=)
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.771C>T (p.Asp257=)
NM_001482.3(GATM):c.786A>G (p.Gly262=)	rs2140641821
NM_001482.3(GATM):c.798T>C (p.Phe266=)	rs2140641810
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+13T>G
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.819A>T (p.Thr273=)
NM_001482.3(GATM):c.831C>T (p.Gly277=)
NM_001482.3(GATM):c.834T>C (p.Ile278=)
NM_001482.3(GATM):c.849G>A (p.Arg283=)
NM_001482.3(GATM):c.855T>C (p.Leu285=)
NM_001482.3(GATM):c.867C>T (p.Tyr289=)
NM_001482.3(GATM):c.879C>T (p.Ile293=)
NM_001482.3(GATM):c.882C>T (p.Ile294=)
NM_001482.3(GATM):c.897C>G (p.Pro299=)
NM_001482.3(GATM):c.897C>T (p.Pro299=)	rs2140641504
NM_001482.3(GATM):c.909T>C (p.His303=)	rs2140641491
NM_001482.3(GATM):c.930C>T (p.Ile310=)	rs2140641456
NM_001482.3(GATM):c.964C>A (p.Arg322=)
NM_001482.3(GATM):c.969A>G (p.Pro323=)
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+9T>C	rs1555384111
NM_001482.3(GATM):c.979-10G>T
NM_001482.3(GATM):c.979-12T>C
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.979-19dup
NM_001482.3(GATM):c.979-7C>T
NM_001482.3(GATM):c.979-9G>A
NM_001482.3(GATM):c.984T>C (p.Asp328=)	rs1203613389
NM_001482.3(GATM):c.990C>T (p.Phe330=)

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