ClinVar Miner

List of variants reported as uncertain significance for formiminoglutamic aciduria

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 98
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HGVS dbSNP gnomAD frequency
NM_006657.3(FTCD):c.*15C>A rs114980528 0.00458
NM_206965.2(FTCD):c.1358C>T (p.Thr453Met) rs200283734 0.00075
NM_206965.2(FTCD):c.1364C>T (p.Ala455Val) rs61735840 0.00065
NM_206965.2(FTCD):c.*1C>T rs144773622 0.00045
NM_206965.2(FTCD):c.319T>C (p.Cys107Arg) rs377359525 0.00033
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.430G>A (p.Gly144Arg) rs138139105 0.00022
NM_206965.2(FTCD):c.161C>T (p.Pro54Leu) rs374193438 0.00018
NM_206965.2(FTCD):c.571G>A (p.Gly191Ser) rs376603123 0.00016
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.1352C>T (p.Pro451Leu) rs376845160 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.857G>A (p.Cys286Tyr) rs372299678 0.00009
NM_206965.2(FTCD):c.1307G>A (p.Arg436His) rs373471933 0.00008
NM_206965.2(FTCD):c.1015T>A (p.Ser339Thr) rs1195012799 0.00007
NM_206965.2(FTCD):c.625G>A (p.Gly209Arg) rs367906516 0.00007
NM_206965.2(FTCD):c.988G>A (p.Gly330Arg) rs774835292 0.00007
NM_206965.2(FTCD):c.1336C>T (p.Arg446Trp) rs201966668 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.403C>T (p.Arg135Cys) rs28941768 0.00006
NM_206965.2(FTCD):c.532G>T (p.Ala178Ser) rs911364543 0.00006
NM_206965.2(FTCD):c.1363G>A (p.Ala455Thr) rs376572763 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.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.49C>A (p.Gln17Lys) rs776696117 0.00003
NM_206965.2(FTCD):c.61G>A (p.Asp21Asn) rs750462888 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.1273C>T (p.Leu425Phe) rs755340941 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.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.521C>T (p.Thr174Met) rs757064013 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
NC_000021.9:g.(?_46136967)_(46155543_?)dup
NM_006657.3(FTCD):c.*113C>T rs886057173
NM_006657.3(FTCD):c.*127C>A rs538433909
NM_006657.3(FTCD):c.*67C>T rs139773262
NM_206965.2(FTCD):c.1016C>A (p.Ser339Tyr) rs775567630
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.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.1293G>C (p.Glu431Asp) rs769728202
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.1391_1392delinsTG (p.Ala464Val) rs2123481486
NM_206965.2(FTCD):c.140C>G (p.Thr47Ser)
NM_206965.2(FTCD):c.1465A>T (p.Met489Leu)
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.1540-17_1540-16del rs747091513
NM_206965.2(FTCD):c.1574C>T (p.Ala525Val)
NM_206965.2(FTCD):c.1591C>A (p.Leu531Met)
NM_206965.2(FTCD):c.1615C>T (p.Arg539Trp) rs756994444
NM_206965.2(FTCD):c.176T>G (p.Val59Gly)
NM_206965.2(FTCD):c.214C>T (p.Leu72Phe) rs1378684756
NM_206965.2(FTCD):c.220G>A (p.Asp74Asn)
NM_206965.2(FTCD):c.224T>C (p.Met75Thr) rs2123584379
NM_206965.2(FTCD):c.266A>G (p.Asp89Gly)
NM_206965.2(FTCD):c.322G>A (p.Ala108Thr)
NM_206965.2(FTCD):c.367+6C>T
NM_206965.2(FTCD):c.379G>A (p.Gly127Ser) rs766010122
NM_206965.2(FTCD):c.418G>C (p.Ala140Pro)
NM_206965.2(FTCD):c.468C>T (p.Ala156=)
NM_206965.2(FTCD):c.469G>A (p.Asp157Asn) rs532226691
NM_206965.2(FTCD):c.530G>A (p.Gly177Glu) rs760709342
NM_206965.2(FTCD):c.610C>T (p.Arg204Trp)
NM_206965.2(FTCD):c.636+5C>T
NM_206965.2(FTCD):c.64G>A (p.Ala22Thr)
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.862_864del (p.Lys288del) rs1321726682
NM_206965.2(FTCD):c.896G>C (p.Arg299Pro) rs119469015
NM_206965.2(FTCD):c.984G>C (p.Glu328Asp) rs982953507
NM_206965.2(FTCD):c.997del (p.Arg333fs) rs1568974130

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