ClinVar Miner

List of variants reported as likely benign for Arginine:glycine amidinotransferase deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 217
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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.282G>A (p.Glu94=) rs141223762 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.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.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.1053C>G (p.Leu351=)
NM_001482.3(GATM):c.1053C>T (p.Leu351=)
NM_001482.3(GATM):c.108C>T (p.Phe36=)
NM_001482.3(GATM):c.1110T>C (p.Val370=)
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.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.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.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.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.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+15T>C
NM_001482.3(GATM):c.288+18A>C
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.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.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+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>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.70-19T>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+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.831C>T (p.Gly277=)
NM_001482.3(GATM):c.855T>C (p.Leu285=)
NM_001482.3(GATM):c.867C>T (p.Tyr289=)
NM_001482.3(GATM):c.882C>T (p.Ile294=)
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.979-19dup
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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