List of variants reported as likely benign for Glutamate formiminotransferase deficiency by Labcorp Genetics (formerly Invitae), Labcorp

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 102

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HGVS	dbSNP	gnomAD frequency
NM_206965.2(FTCD):c.643C>T (p.Arg215Cys)	rs149667449	0.00185
NM_206965.2(FTCD):c.1409G>A (p.Arg470Gln)	rs61735839	0.00128
NM_206965.2(FTCD):c.141C>T (p.Thr47=)	rs61735837	0.00072
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.775-20C>T	rs202155443	0.00050
NM_206965.2(FTCD):c.171C>T (p.Cys57=)	rs139986036	0.00044
NM_206965.2(FTCD):c.750C>T (p.Tyr250=)	rs112148465	0.00038
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.1260+9C>T	rs373667711	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.906+8G>A	rs375796852	0.00016
NM_206965.2(FTCD):c.54+10G>A	rs201830431	0.00015
NM_206965.2(FTCD):c.1614C>T (p.Thr538=)	rs138620208	0.00013
NM_206965.2(FTCD):c.456+17C>T	rs373031700	0.00012
NM_206965.2(FTCD):c.1198G>A (p.Glu400Lys)	rs553282500	0.00011
NM_206965.2(FTCD):c.129C>T (p.Ser43=)	rs774812132	0.00011
NM_206965.2(FTCD):c.368-14G>A	rs770969623	0.00011
NM_206965.2(FTCD):c.367+11C>T	rs780012691	0.00010
NM_206965.2(FTCD):c.55-16C>T	rs780696131	0.00010
NM_206965.2(FTCD):c.774+19G>A	rs369593831	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.138C>T (p.Arg46=)	rs143498507	0.00008
NM_206965.2(FTCD):c.1304+20C>T	rs756710291	0.00007
NM_206965.2(FTCD):c.1389G>A (p.Pro463=)	rs576877652	0.00007
NM_206965.2(FTCD):c.456+14G>A	rs572975646	0.00007
NM_206965.2(FTCD):c.906+7C>T	rs376001900	0.00007
NM_206965.2(FTCD):c.117C>T (p.Asp39=)	rs751420192	0.00006
NM_206965.2(FTCD):c.1539+16G>T	rs200000573	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.63C>T (p.Asp21=)	rs775067212	0.00006
NM_206965.2(FTCD):c.600G>A (p.Ala200=)	rs147306849	0.00005
NM_206965.2(FTCD):c.1380G>A (p.Ser460=)	rs750312666	0.00004
NM_206965.2(FTCD):c.1443+12C>T	rs767969299	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.471C>T (p.Asp157=)	rs763999122	0.00004
NM_206965.2(FTCD):c.60C>T (p.Ile20=)	rs374622555	0.00004
NM_206965.2(FTCD):c.456+13C>T	rs377758230	0.00003
NM_206965.2(FTCD):c.637-14C>T	rs370996852	0.00003
NM_206965.2(FTCD):c.1302C>T (p.Asp434=)	rs566814523	0.00002
NM_206965.2(FTCD):c.1497C>T (p.Leu499=)	rs368540665	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.1305-15T>C	rs767156404	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.1590A>G (p.Ala530=)	rs1381661953	0.00001
NM_206965.2(FTCD):c.219C>T (p.Ile73=)	rs553244508	0.00001
NM_206965.2(FTCD):c.239-12G>A	rs777100964	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.367+13C>T	rs886057175	0.00001
NM_206965.2(FTCD):c.534G>A (p.Ala178=)	rs557774996	0.00001
NM_206965.2(FTCD):c.54+14A>T	rs1241953889	0.00001
NM_206965.2(FTCD):c.54+9C>T	rs771941845	0.00001
NM_206965.2(FTCD):c.774+7C>G	rs770406729	0.00001
NM_206965.2(FTCD):c.774+9G>A	rs539893640	0.00001
NM_206965.2(FTCD):c.1002C>G (p.Gly334=)	rs1452645058
NM_206965.2(FTCD):c.1032G>C (p.Val344=)	rs373127146
NM_206965.2(FTCD):c.1032G>T (p.Val344=)
NM_206965.2(FTCD):c.1098+18_1098+19insGGGCGCTGTTGGGGGGAGGGCGGGGAG	rs2123530066
NM_206965.2(FTCD):c.1098+20C>A	rs1344601200
NM_206965.2(FTCD):c.1098+20C>G
NM_206965.2(FTCD):c.1161G>C (p.Leu387=)
NM_206965.2(FTCD):c.1261-18T>A	rs2078933817
NM_206965.2(FTCD):c.1261-8T>C	rs2123483793
NM_206965.2(FTCD):c.1304+16C>T	rs181554544
NM_206965.2(FTCD):c.1317C>T (p.Ala439=)	rs377363402
NM_206965.2(FTCD):c.1383G>T (p.Leu461=)	rs781255845
NM_206965.2(FTCD):c.1482A>G (p.Ala494=)
NM_206965.2(FTCD):c.1540-17_1540-16del	rs747091513
NM_206965.2(FTCD):c.1540-6C>T	rs748500991
NM_206965.2(FTCD):c.1545C>T (p.His515=)	rs1447286926
NM_206965.2(FTCD):c.1563C>T (p.Leu521=)	rs1601286855
NM_206965.2(FTCD):c.1608G>A (p.Leu536=)	rs2078882613
NM_206965.2(FTCD):c.165G>A (p.Pro55=)
NM_206965.2(FTCD):c.198C>T (p.Ala66=)	rs1601356124
NM_206965.2(FTCD):c.243G>A (p.Glu81=)
NM_206965.2(FTCD):c.367+16C>T	rs376158852
NM_206965.2(FTCD):c.367+17del	rs2517084712
NM_206965.2(FTCD):c.367+18C>G	rs373011848
NM_206965.2(FTCD):c.469G>T (p.Asp157Tyr)	rs532226691
NM_206965.2(FTCD):c.480C>T (p.Pro160=)
NM_206965.2(FTCD):c.528G>A (p.Thr176=)	rs369544540
NM_206965.2(FTCD):c.55-14G>T	rs1291725044
NM_206965.2(FTCD):c.597C>T (p.Ile199=)	rs773170658
NM_206965.2(FTCD):c.624C>T (p.Arg208=)	rs775966116
NM_206965.2(FTCD):c.654A>G (p.Lys218=)	rs2123557644
NM_206965.2(FTCD):c.775-16G>A
NM_206965.2(FTCD):c.906+13G>A
NM_206965.2(FTCD):c.969-15_969-14delinsTT	rs796677845
NM_206965.2(FTCD):c.987C>G (p.Arg329=)	rs532411958

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