ClinVar Miner

List of variants in gene FTCD studied for formiminoglutamic aciduria

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 229
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HGVS dbSNP gnomAD frequency
NM_206965.2(FTCD):c.*108G>A rs12774 0.63657
NM_206965.2(FTCD):c.54+12G>A rs2277820 0.27049
NM_206965.2(FTCD):c.417G>A (p.Pro139=) rs61729391 0.07442
NM_206965.2(FTCD):c.1313C>T (p.Ala438Val) rs61735841 0.06786
NM_206965.2(FTCD):c.301G>A (p.Val101Met) rs61735836 0.05528
NM_206965.2(FTCD):c.1050C>G (p.Arg350=) rs138803850 0.03521
NM_206965.2(FTCD):c.452A>T (p.Lys151Met) rs116089237 0.02538
NM_206965.2(FTCD):c.906+15C>T rs76474184 0.01274
NM_206965.2(FTCD):c.919C>T (p.Leu307=) rs141103624 0.00600
NM_206965.2(FTCD):c.239-13C>T rs185291133 0.00599
NM_206965.2(FTCD):c.457-16G>A rs192895127 0.00528
NM_206965.2(FTCD):c.407G>A (p.Arg136Gln) rs149596485 0.00366
NM_206965.2(FTCD):c.643C>T (p.Arg215Cys) rs149667449 0.00187
NM_206965.2(FTCD):c.456+10C>G rs113169471 0.00166
NM_206965.2(FTCD):c.382G>A (p.Glu128Lys) rs61729373 0.00152
NM_206965.2(FTCD):c.36G>A (p.Ser12=) rs150970653 0.00148
NM_206965.2(FTCD):c.1409G>A (p.Arg470Gln) rs61735839 0.00128
NM_206965.2(FTCD):c.1607T>A (p.Leu536Ter) rs149266909 0.00116
NM_206965.2(FTCD):c.1220C>A (p.Thr407Lys) rs148920158 0.00115
NM_206965.2(FTCD):c.457-14G>A rs201867413 0.00093
NM_206965.2(FTCD):c.1337G>A (p.Arg446Gln) rs79021510 0.00086
NM_206965.2(FTCD):c.239-16C>T rs376733737 0.00084
NM_206965.2(FTCD):c.1358C>T (p.Thr453Met) rs200283734 0.00075
NM_206965.2(FTCD):c.141C>T (p.Thr47=) rs61735837 0.00072
NM_206965.2(FTCD):c.1364C>T (p.Ala455Val) rs61735840 0.00065
NM_206965.2(FTCD):c.192C>T (p.Asn64=) rs148787454 0.00059
NM_206965.2(FTCD):c.999A>C (p.Arg333=) rs565210074 0.00057
NM_206965.2(FTCD):c.1122G>A (p.Val374=) rs376986639 0.00056
NM_206965.2(FTCD):c.636+9G>A rs370596374 0.00050
NM_206965.2(FTCD):c.*1C>T rs144773622 0.00045
NM_206965.2(FTCD):c.267C>T (p.Asp89=) rs370444672 0.00039
NM_206965.2(FTCD):c.774+18C>T rs372987977 0.00036
NM_206965.2(FTCD):c.1023C>T (p.Arg341=) rs770019374 0.00034
NM_206965.2(FTCD):c.319T>C (p.Cys107Arg) rs377359525 0.00033
NM_206965.2(FTCD):c.1168A>G (p.Thr390Ala) rs201828652 0.00031
NM_206965.2(FTCD):c.959G>A (p.Arg320Gln) rs77740289 0.00030
NM_206965.2(FTCD):c.149C>T (p.Thr50Ile) rs199769706 0.00024
NM_206965.2(FTCD):c.600G>A (p.Ala200=) rs147306849 0.00024
NM_206965.2(FTCD):c.430G>A (p.Gly144Arg) rs138139105 0.00022
NM_206965.2(FTCD):c.623G>A (p.Arg208His) rs199508525 0.00022
NM_206965.2(FTCD):c.211C>T (p.Arg71Ter) rs8133955 0.00021
NM_206965.2(FTCD):c.1260+9C>T rs373667711 0.00018
NM_206965.2(FTCD):c.161C>T (p.Pro54Leu) rs374193438 0.00018
NM_206965.2(FTCD):c.1007G>T (p.Gly336Val) rs540211579 0.00017
NM_206965.2(FTCD):c.1206G>A (p.Ser402=) rs376754467 0.00016
NM_206965.2(FTCD):c.1371G>A (p.Thr457=) rs544253281 0.00016
NM_206965.2(FTCD):c.1448C>T (p.Ala483Val) rs145609043 0.00016
NM_206965.2(FTCD):c.368-15C>T rs368792878 0.00016
NM_206965.2(FTCD):c.571G>A (p.Gly191Ser) rs376603123 0.00016
NM_206965.2(FTCD):c.906+8G>A rs375796852 0.00016
NM_206965.2(FTCD):c.1443+12C>T rs767969299 0.00015
NM_206965.2(FTCD):c.1614C>T (p.Thr538=) rs138620208 0.00013
NM_206965.2(FTCD):c.593G>A (p.Arg198His) rs142358848 0.00012
NM_206965.2(FTCD):c.677T>C (p.Leu226Pro) rs149445900 0.00012
NM_206965.2(FTCD):c.129C>T (p.Ser43=) rs774812132 0.00011
NM_206965.2(FTCD):c.1352C>T (p.Pro451Leu) rs376845160 0.00011
NM_206965.2(FTCD):c.774+19G>A rs369593831 0.00011
NM_206965.2(FTCD):c.1291del (p.Glu431fs) rs775788856 0.00010
NM_206965.2(FTCD):c.476C>T (p.Ala159Val) rs200652518 0.00010
NM_206965.2(FTCD):c.294C>T (p.Gly98=) rs371214676 0.00009
NM_206965.2(FTCD):c.321C>T (p.Cys107=) rs373447719 0.00009
NM_206965.2(FTCD):c.857G>A (p.Cys286Tyr) rs372299678 0.00009
NM_206965.2(FTCD):c.1307G>A (p.Arg436His) rs373471933 0.00008
NM_206965.2(FTCD):c.138C>T (p.Arg46=) rs143498507 0.00008
NM_206965.2(FTCD):c.1015T>A (p.Ser339Thr) rs1195012799 0.00007
NM_206965.2(FTCD):c.1304+20C>T rs756710291 0.00007
NM_206965.2(FTCD):c.625G>A (p.Gly209Arg) rs367906516 0.00007
NM_206965.2(FTCD):c.906+7C>T rs376001900 0.00007
NM_206965.2(FTCD):c.988G>A (p.Gly330Arg) rs774835292 0.00007
NM_206965.2(FTCD):c.117C>T (p.Asp39=) rs751420192 0.00006
NM_206965.2(FTCD):c.1336C>T (p.Arg446Trp) rs201966668 0.00006
NM_206965.2(FTCD):c.1539+16G>T rs200000573 0.00006
NM_206965.2(FTCD):c.1540A>G (p.Ile514Val) rs369754449 0.00006
NM_206965.2(FTCD):c.236A>C (p.Gln79Pro) rs775726030 0.00006
NM_206965.2(FTCD):c.285C>T (p.Pro95=) rs572661766 0.00006
NM_206965.2(FTCD):c.296T>C (p.Val99Ala) rs374097903 0.00006
NM_206965.2(FTCD):c.403C>T (p.Arg135Cys) rs28941768 0.00006
NM_206965.2(FTCD):c.477G>A (p.Ala159=) rs764924772 0.00006
NM_206965.2(FTCD):c.532G>T (p.Ala178Ser) rs911364543 0.00006
NM_206965.2(FTCD):c.63C>T (p.Asp21=) rs775067212 0.00006
NM_206965.2(FTCD):c.1305-15T>C rs767156404 0.00004
NM_206965.2(FTCD):c.1363G>A (p.Ala455Thr) rs376572763 0.00004
NM_206965.2(FTCD):c.1380G>A (p.Ser460=) rs750312666 0.00004
NM_206965.2(FTCD):c.1429C>T (p.Arg477Trp) rs556952105 0.00004
NM_206965.2(FTCD):c.22G>A (p.Val8Ile) rs368109014 0.00004
NM_206965.2(FTCD):c.238+13G>A rs747108135 0.00004
NM_206965.2(FTCD):c.249C>A (p.Pro83=) rs773177344 0.00004
NM_206965.2(FTCD):c.35C>T (p.Ser12Leu) rs201753824 0.00004
NM_206965.2(FTCD):c.439G>A (p.Glu147Lys) rs754659947 0.00004
NM_206965.2(FTCD):c.172G>A (p.Val58Met) rs749659966 0.00003
NM_206965.2(FTCD):c.250C>T (p.Arg84Cys) rs576603499 0.00003
NM_206965.2(FTCD):c.425G>A (p.Arg142Gln) rs375990689 0.00003
NM_206965.2(FTCD):c.456+13C>T rs377758230 0.00003
NM_206965.2(FTCD):c.49C>A (p.Gln17Lys) rs776696117 0.00003
NM_206965.2(FTCD):c.61G>A (p.Asp21Asn) rs750462888 0.00003
NM_206965.2(FTCD):c.763C>T (p.Arg255Ter) rs140217223 0.00003
NM_206965.2(FTCD):c.1166C>G (p.Thr389Arg) rs545214029 0.00002
NM_206965.2(FTCD):c.1379C>T (p.Ser460Leu) rs755986536 0.00002
NM_206965.2(FTCD):c.197C>T (p.Ala66Val) rs199867833 0.00002
NM_206965.2(FTCD):c.847G>A (p.Ala283Thr) rs760635509 0.00002
NM_206965.2(FTCD):c.1194C>T (p.Phe398=) rs2079118606 0.00001
NM_206965.2(FTCD):c.1261-19T>G rs760892016 0.00001
NM_206965.2(FTCD):c.1273C>T (p.Leu425Phe) rs755340941 0.00001
NM_206965.2(FTCD):c.1305-17C>T rs760169779 0.00001
NM_206965.2(FTCD):c.1314G>A (p.Ala438=) rs777750537 0.00001
NM_206965.2(FTCD):c.1353G>A (p.Pro451=) rs763845321 0.00001
NM_206965.2(FTCD):c.1444-19C>G rs757674235 0.00001
NM_206965.2(FTCD):c.1549C>T (p.Arg517Cys) rs1188352065 0.00001
NM_206965.2(FTCD):c.1589C>T (p.Ala530Val) rs759031386 0.00001
NM_206965.2(FTCD):c.1590A>G (p.Ala530=) rs1381661953 0.00001
NM_206965.2(FTCD):c.200G>A (p.Arg67Gln) rs765154985 0.00001
NM_206965.2(FTCD):c.251G>A (p.Arg84His) rs748347001 0.00001
NM_206965.2(FTCD):c.274C>T (p.Pro92Ser) rs749149640 0.00001
NM_206965.2(FTCD):c.282C>T (p.Ile94=) rs368164003 0.00001
NM_206965.2(FTCD):c.363G>T (p.Val121=) rs2079329446 0.00001
NM_206965.2(FTCD):c.521C>T (p.Thr174Met) rs757064013 0.00001
NM_206965.2(FTCD):c.534G>A (p.Ala178=) rs557774996 0.00001
NM_206965.2(FTCD):c.774+4A>G rs759550771 0.00001
NM_206965.2(FTCD):c.842C>T (p.Ala281Val) rs752941882 0.00001
NM_206965.2(FTCD):c.94G>T (p.Gly32Cys) rs573745632 0.00001
NC_000021.8:g.(?_47565311)_(47575437_?)del
NC_000021.9:g.(?_46136967)_(46155543_?)dup
NM_006657.3(FTCD):c.*113C>T rs886057173
NM_206965.2(FTCD):c.1002C>G (p.Gly334=)
NM_206965.2(FTCD):c.1016C>A (p.Ser339Tyr) rs775567630
NM_206965.2(FTCD):c.1032G>C (p.Val344=) rs373127146
NM_206965.2(FTCD):c.1068_1098+24del
NM_206965.2(FTCD):c.1076T>G (p.Val359Gly)
NM_206965.2(FTCD):c.1077GGC[2] (p.Ala365del) rs780057373
NM_206965.2(FTCD):c.1078G>A (p.Ala360Thr)
NM_206965.2(FTCD):c.1097T>C (p.Met366Thr)
NM_206965.2(FTCD):c.1098+18_1098+19insGGGCGCTGTTGGGGGGAGGGCGGGGAG rs2123530066
NM_206965.2(FTCD):c.1098+20C>A
NM_206965.2(FTCD):c.1099-20dup rs541370678
NM_206965.2(FTCD):c.1103C>T (p.Ala368Val) rs1033001525
NM_206965.2(FTCD):c.1138G>A (p.Gly380Arg)
NM_206965.2(FTCD):c.1234G>A (p.Asp412Asn)
NM_206965.2(FTCD):c.1252G>A (p.Ala418Thr)
NM_206965.2(FTCD):c.1261-18T>A
NM_206965.2(FTCD):c.1261-1G>A
NM_206965.2(FTCD):c.1261-8T>C rs2123483793
NM_206965.2(FTCD):c.1287A>C (p.Thr429=)
NM_206965.2(FTCD):c.1293G>C (p.Glu431Asp) rs769728202
NM_206965.2(FTCD):c.1302C>T (p.Asp434=)
NM_206965.2(FTCD):c.1304+16C>T rs181554544
NM_206965.2(FTCD):c.1311GGC[1] (p.Ala439del) rs2123482286
NM_206965.2(FTCD):c.1312G>A (p.Ala438Thr) rs1162672679
NM_206965.2(FTCD):c.1317C>T (p.Ala439=) rs377363402
NM_206965.2(FTCD):c.1366dup (p.Glu456fs) rs777099958
NM_206965.2(FTCD):c.1383G>T (p.Leu461=) rs781255845
NM_206965.2(FTCD):c.1389G>A (p.Pro463=)
NM_206965.2(FTCD):c.1391_1392delinsTG (p.Ala464Val) rs2123481486
NM_206965.2(FTCD):c.1392C>G (p.Ala464=) rs1047179
NM_206965.2(FTCD):c.140C>G (p.Thr47Ser)
NM_206965.2(FTCD):c.1443+17del
NM_206965.2(FTCD):c.1443+4dup rs372045405
NM_206965.2(FTCD):c.1443+9del rs372045405
NM_206965.2(FTCD):c.1465A>T (p.Met489Leu)
NM_206965.2(FTCD):c.1497C>T (p.Leu499=)
NM_206965.2(FTCD):c.1514T>C (p.Ile505Thr)
NM_206965.2(FTCD):c.151T>G (p.Phe51Val)
NM_206965.2(FTCD):c.1521C>G (p.Asp507Glu) rs141582814
NM_206965.2(FTCD):c.1522G>A (p.Glu508Lys)
NM_206965.2(FTCD):c.1539+4_1539+11del rs755855475
NM_206965.2(FTCD):c.1540-6C>T
NM_206965.2(FTCD):c.1545C>T (p.His515=) rs1447286926
NM_206965.2(FTCD):c.1563C>T (p.Leu521=)
NM_206965.2(FTCD):c.1574C>T (p.Ala525Val)
NM_206965.2(FTCD):c.1591C>A (p.Leu531Met)
NM_206965.2(FTCD):c.1608G>A (p.Leu536=)
NM_206965.2(FTCD):c.1615C>T (p.Arg539Trp) rs756994444
NM_206965.2(FTCD):c.171C>T (p.Cys57=)
NM_206965.2(FTCD):c.176T>G (p.Val59Gly)
NM_206965.2(FTCD):c.198C>T (p.Ala66=) rs1601356124
NM_206965.2(FTCD):c.214C>T (p.Leu72Phe) rs1378684756
NM_206965.2(FTCD):c.219C>T (p.Ile73=)
NM_206965.2(FTCD):c.220G>A (p.Asp74Asn)
NM_206965.2(FTCD):c.224T>C (p.Met75Thr) rs2123584379
NM_206965.2(FTCD):c.239-12G>A
NM_206965.2(FTCD):c.266A>G (p.Asp89Gly)
NM_206965.2(FTCD):c.293dup (p.Val99fs) rs1310075515
NM_206965.2(FTCD):c.322G>A (p.Ala108Thr)
NM_206965.2(FTCD):c.367+11C>T
NM_206965.2(FTCD):c.367+16C>T
NM_206965.2(FTCD):c.367+16dup rs746412155
NM_206965.2(FTCD):c.367+17del
NM_206965.2(FTCD):c.367+18C>G
NM_206965.2(FTCD):c.367+6C>T
NM_206965.2(FTCD):c.368-14G>A
NM_206965.2(FTCD):c.368-17G>A rs61688555
NM_206965.2(FTCD):c.372C>G (p.Tyr124Ter)
NM_206965.2(FTCD):c.378C>G (p.Tyr126Ter) rs374724805
NM_206965.2(FTCD):c.378C>T (p.Tyr126=) rs374724805
NM_206965.2(FTCD):c.379G>A (p.Gly127Ser) rs766010122
NM_206965.2(FTCD):c.418G>C (p.Ala140Pro)
NM_206965.2(FTCD):c.456+14G>A
NM_206965.2(FTCD):c.456+17C>T
NM_206965.2(FTCD):c.468C>T (p.Ala156=)
NM_206965.2(FTCD):c.469G>A (p.Asp157Asn) rs532226691
NM_206965.2(FTCD):c.469G>T (p.Asp157Tyr) rs532226691
NM_206965.2(FTCD):c.471C>T (p.Asp157=)
NM_206965.2(FTCD):c.528G>A (p.Thr176=)
NM_206965.2(FTCD):c.530G>A (p.Gly177Glu) rs760709342
NM_206965.2(FTCD):c.54+10G>A
NM_206965.2(FTCD):c.54+14A>T
NM_206965.2(FTCD):c.54+9C>T
NM_206965.2(FTCD):c.55-14G>T
NM_206965.2(FTCD):c.55-16C>T
NM_206965.2(FTCD):c.597C>T (p.Ile199=)
NM_206965.2(FTCD):c.60C>T (p.Ile20=)
NM_206965.2(FTCD):c.610C>T (p.Arg204Trp)
NM_206965.2(FTCD):c.624C>T (p.Arg208=) rs775966116
NM_206965.2(FTCD):c.636+5C>T
NM_206965.2(FTCD):c.637-14C>T
NM_206965.2(FTCD):c.64G>A (p.Ala22Thr)
NM_206965.2(FTCD):c.654A>G (p.Lys218=)
NM_206965.2(FTCD):c.661G>A (p.Gly221Ser)
NM_206965.2(FTCD):c.712C>A (p.Leu238Ile)
NM_206965.2(FTCD):c.766_767del (p.Glu256fs) rs1568979227
NM_206965.2(FTCD):c.774+7C>G
NM_206965.2(FTCD):c.774+9G>A
NM_206965.2(FTCD):c.775-20C>T
NM_206965.2(FTCD):c.862_864del (p.Lys288del) rs1321726682
NM_206965.2(FTCD):c.896G>C (p.Arg299Pro) rs119469015
NM_206965.2(FTCD):c.969-15_969-14delinsTT rs796677845
NM_206965.2(FTCD):c.984G>C (p.Glu328Asp) rs982953507
NM_206965.2(FTCD):c.987C>G (p.Arg329=)
NM_206965.2(FTCD):c.990dup (p.Pro331fs) rs398124234
NM_206965.2(FTCD):c.997del (p.Arg333fs) rs1568974130

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