ClinVar Miner

List of variants in gene FTCD reported as likely benign for anemia

Included ClinVar conditions (281):
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Gene type:
ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_206965.2(FTCD):c.643C>T (p.Arg215Cys) rs149667449 0.00187
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.774+18C>T rs372987977 0.00036
NM_206965.2(FTCD):c.1023C>T (p.Arg341=) rs770019374 0.00034
NM_206965.2(FTCD):c.600G>A (p.Ala200=) rs147306849 0.00024
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.1443+12C>T rs767969299 0.00015
NM_206965.2(FTCD):c.1614C>T (p.Thr538=) rs138620208 0.00013
NM_206965.2(FTCD):c.129C>T (p.Ser43=) rs774812132 0.00011
NM_206965.2(FTCD):c.774+19G>A rs369593831 0.00011
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.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.1305-15T>C rs767156404 0.00004
NM_206965.2(FTCD):c.1380G>A (p.Ser460=) rs750312666 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.456+13C>T rs377758230 0.00003
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.1305-17C>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.282C>T (p.Ile94=) rs368164003 0.00001
NM_206965.2(FTCD):c.363G>T (p.Val121=) rs2079329446 0.00001
NM_206965.2(FTCD):c.534G>A (p.Ala178=) rs557774996 0.00001
NM_206965.2(FTCD):c.1002C>G (p.Gly334=)
NM_206965.2(FTCD):c.1032G>C (p.Val344=) rs373127146
NM_206965.2(FTCD):c.1098+18_1098+19insGGGCGCTGTTGGGGGGAGGGCGGGGAG rs2123530066
NM_206965.2(FTCD):c.1098+20C>A
NM_206965.2(FTCD):c.1261-18T>A
NM_206965.2(FTCD):c.1261-8T>C rs2123483793
NM_206965.2(FTCD):c.1302C>T (p.Asp434=)
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.1389G>A (p.Pro463=)
NM_206965.2(FTCD):c.1443+9del rs372045405
NM_206965.2(FTCD):c.1497C>T (p.Leu499=)
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.1608G>A (p.Leu536=)
NM_206965.2(FTCD):c.171C>T (p.Cys57=)
NM_206965.2(FTCD):c.198C>T (p.Ala66=) rs1601356124
NM_206965.2(FTCD):c.219C>T (p.Ile73=)
NM_206965.2(FTCD):c.239-12G>A
NM_206965.2(FTCD):c.367+11C>T
NM_206965.2(FTCD):c.367+16C>T
NM_206965.2(FTCD):c.367+17del
NM_206965.2(FTCD):c.367+18C>G
NM_206965.2(FTCD):c.368-14G>A
NM_206965.2(FTCD):c.456+14G>A
NM_206965.2(FTCD):c.456+17C>T
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.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.624C>T (p.Arg208=) rs775966116
NM_206965.2(FTCD):c.637-14C>T
NM_206965.2(FTCD):c.654A>G (p.Lys218=)
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.969-15_969-14delinsTT rs796677845
NM_206965.2(FTCD):c.987C>G (p.Arg329=)

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