ClinVar Miner

List of variants in gene FTCD studied for anemia (disease)

Included ClinVar conditions (281):
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Total variants: 89
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HGVS dbSNP
NC_000021.9:g.(?_46136967)_(46155543_?)dup
NM_006657.3(FTCD):c.*113C>T rs886057173
NM_006657.3(FTCD):c.*114A>G rs886057172
NM_006657.3(FTCD):c.*55A>G rs752959852
NM_206965.2(FTCD):c.*1C>T rs144773622
NM_206965.2(FTCD):c.-33C>T rs2277821
NM_206965.2(FTCD):c.-42T>C rs372968557
NM_206965.2(FTCD):c.100G>A (p.Val34Met) rs750617099
NM_206965.2(FTCD):c.1015T>A (p.Ser339Thr) rs1195012799
NM_206965.2(FTCD):c.1050C>G (p.Arg350=) rs138803850
NM_206965.2(FTCD):c.1122G>A (p.Val374=) rs376986639
NM_206965.2(FTCD):c.1166C>G (p.Thr389Arg) rs545214029
NM_206965.2(FTCD):c.1168A>G (p.Thr390Ala) rs201828652
NM_206965.2(FTCD):c.1202C>T (p.Ala401Val) rs886057174
NM_206965.2(FTCD):c.1206G>A (p.Ser402=) rs376754467
NM_206965.2(FTCD):c.1220C>A (p.Thr407Lys) rs148920158
NM_206965.2(FTCD):c.1261-13C>G rs372484759
NM_206965.2(FTCD):c.1271G>A (p.Arg424Lys) rs779369991
NM_206965.2(FTCD):c.1273C>T (p.Leu425Phe)
NM_206965.2(FTCD):c.1291del (p.Glu431fs) rs775788856
NM_206965.2(FTCD):c.1312G>A (p.Ala438Thr) rs1162672679
NM_206965.2(FTCD):c.1313C>T (p.Ala438Val) rs61735841
NM_206965.2(FTCD):c.1337G>A (p.Arg446Gln) rs79021510
NM_206965.2(FTCD):c.1352C>T (p.Pro451Leu) rs376845160
NM_206965.2(FTCD):c.1358C>T (p.Thr453Met) rs200283734
NM_206965.2(FTCD):c.1364C>T (p.Ala455Val) rs61735840
NM_206965.2(FTCD):c.1366dup (p.Glu456fs) rs777099958
NM_206965.2(FTCD):c.1392C>G (p.Ala464=) rs1047179
NM_206965.2(FTCD):c.1408C>T (p.Arg470Trp) rs199807194
NM_206965.2(FTCD):c.1409G>A (p.Arg470Gln) rs61735839
NM_206965.2(FTCD):c.1443+9del rs372045405
NM_206965.2(FTCD):c.1539+4_1539+11del
NM_206965.2(FTCD):c.153C>T (p.Phe51=) rs779166982
NM_206965.2(FTCD):c.1589C>T (p.Ala530Val) rs759031386
NM_206965.2(FTCD):c.1607T>A (p.Leu536Ter) rs149266909
NM_206965.2(FTCD):c.1615C>T (p.Arg539Trp)
NM_206965.2(FTCD):c.192C>T (p.Asn64=) rs148787454
NM_206965.2(FTCD):c.197C>T (p.Ala66Val) rs199867833
NM_206965.2(FTCD):c.211C>T (p.Arg71Ter) rs8133955
NM_206965.2(FTCD):c.250C>T (p.Arg84Cys) rs576603499
NM_206965.2(FTCD):c.267C>T (p.Asp89=) rs370444672
NM_206965.2(FTCD):c.285C>T (p.Pro95=) rs572661766
NM_206965.2(FTCD):c.296T>C (p.Val99Ala) rs374097903
NM_206965.2(FTCD):c.301G>A (p.Val101Met) rs61735836
NM_206965.2(FTCD):c.319T>C (p.Cys107Arg) rs377359525
NM_206965.2(FTCD):c.35C>T (p.Ser12Leu) rs201753824
NM_206965.2(FTCD):c.367+13C>T rs886057175
NM_206965.2(FTCD):c.368-15C>T rs368792878
NM_206965.2(FTCD):c.36G>A (p.Ser12=) rs150970653
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.382G>A (p.Glu128Lys) rs61729373
NM_206965.2(FTCD):c.403C>T (p.Arg135Cys) rs28941768
NM_206965.2(FTCD):c.407G>A (p.Arg136Gln) rs149596485
NM_206965.2(FTCD):c.417G>A (p.Pro139=) rs61729391
NM_206965.2(FTCD):c.425G>A (p.Arg142Gln) rs375990689
NM_206965.2(FTCD):c.430G>A (p.Gly144Arg) rs138139105
NM_206965.2(FTCD):c.439G>A (p.Glu147Lys) rs754659947
NM_206965.2(FTCD):c.452A>T (p.Lys151Met) rs116089237
NM_206965.2(FTCD):c.469G>A (p.Asp157Asn) rs532226691
NM_206965.2(FTCD):c.476C>T (p.Ala159Val) rs200652518
NM_206965.2(FTCD):c.48C>G (p.Asn16Lys) rs369544006
NM_206965.2(FTCD):c.49C>A (p.Gln17Lys) rs776696117
NM_206965.2(FTCD):c.521C>T (p.Thr174Met)
NM_206965.2(FTCD):c.530G>A (p.Gly177Glu)
NM_206965.2(FTCD):c.54+12G>A rs2277820
NM_206965.2(FTCD):c.571G>A (p.Gly191Ser) rs376603123
NM_206965.2(FTCD):c.600G>A (p.Ala200=) rs147306849
NM_206965.2(FTCD):c.61G>A (p.Asp21Asn)
NM_206965.2(FTCD):c.622C>T (p.Arg208Cys) rs764331074
NM_206965.2(FTCD):c.625G>A (p.Gly209Arg) rs367906516
NM_206965.2(FTCD):c.636+9G>A rs370596374
NM_206965.2(FTCD):c.643C>T (p.Arg215Cys) rs149667449
NM_206965.2(FTCD):c.750C>T (p.Tyr250=) rs112148465
NM_206965.2(FTCD):c.763C>T (p.Arg255Ter) rs140217223
NM_206965.2(FTCD):c.764_765GA[1] (p.Glu256fs) rs1568979227
NM_206965.2(FTCD):c.774+4A>G
NM_206965.2(FTCD):c.857G>A (p.Cys286Tyr) rs372299678
NM_206965.2(FTCD):c.862_864del (p.Lys288del)
NM_206965.2(FTCD):c.896G>C (p.Arg299Pro) rs119469015
NM_206965.2(FTCD):c.906+15C>T rs76474184
NM_206965.2(FTCD):c.919C>T (p.Leu307=) rs141103624
NM_206965.2(FTCD):c.92C>T (p.Pro31Leu) rs371619712
NM_206965.2(FTCD):c.94G>T (p.Gly32Cys) rs573745632
NM_206965.2(FTCD):c.959G>A (p.Arg320Gln) rs77740289
NM_206965.2(FTCD):c.984G>C (p.Glu328Asp)
NM_206965.2(FTCD):c.988G>A (p.Gly330Arg) rs774835292
NM_206965.2(FTCD):c.990dup (p.Pro331fs) rs398124234
NM_206965.2(FTCD):c.997del (p.Arg333fs) rs1568974130

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