ClinVar Miner

List of variants in gene FTCD reported by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 35
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_206965.2(FTCD):c.319T>C (p.Cys107Arg) rs377359525 0.00033
NM_206965.2(FTCD):c.211C>T (p.Arg71Ter) rs8133955 0.00021
NM_206965.2(FTCD):c.593G>A (p.Arg198His) rs142358848 0.00012
NM_206965.2(FTCD):c.1291del (p.Glu431fs) rs775788856 0.00010
NM_206965.2(FTCD):c.236A>C (p.Gln79Pro) rs775726030 0.00006
NM_206965.2(FTCD):c.763C>T (p.Arg255Ter) rs140217223 0.00003
NM_206965.2(FTCD):c.1103C>T (p.Ala368Val) rs1033001525 0.00001
NM_206965.2(FTCD):c.1018del (p.Leu340fs)
NM_206965.2(FTCD):c.1020dup (p.Arg341fs)
NM_206965.2(FTCD):c.1031_1061del (p.Val344fs)
NM_206965.2(FTCD):c.1061_1062dup (p.Gly355fs)
NM_206965.2(FTCD):c.1072_1085del (p.Ser358fs)
NM_206965.2(FTCD):c.1081_1096del (p.Ala361fs)
NM_206965.2(FTCD):c.1085_1087delinsTGGGGTCGCT (p.Ala362fs)
NM_206965.2(FTCD):c.1303dup (p.Arg435fs)
NM_206965.2(FTCD):c.1304+1G>A
NM_206965.2(FTCD):c.1443+1del
NM_206965.2(FTCD):c.1444-1G>A
NM_206965.2(FTCD):c.1444-2A>C
NM_206965.2(FTCD):c.1522G>T (p.Glu508Ter)
NM_206965.2(FTCD):c.1543del (p.His515fs)
NM_206965.2(FTCD):c.184del (p.Ala62fs) rs776381858
NM_206965.2(FTCD):c.293dup (p.Val99fs) rs1310075515
NM_206965.2(FTCD):c.299dup (p.Ser100fs)
NM_206965.2(FTCD):c.330dup (p.Phe111fs)
NM_206965.2(FTCD):c.333del (p.Phe111fs)
NM_206965.2(FTCD):c.372C>G (p.Tyr124Ter) rs777286639
NM_206965.2(FTCD):c.460C>T (p.Gln154Ter)
NM_206965.2(FTCD):c.530G>A (p.Gly177Glu) rs760709342
NM_206965.2(FTCD):c.54+2T>A
NM_206965.2(FTCD):c.673dup (p.Tyr225fs)
NM_206965.2(FTCD):c.939C>A (p.Cys313Ter)
NM_206965.2(FTCD):c.990dup (p.Pro331fs) rs398124234
NM_206965.2(FTCD):c.993del (p.Glu332fs)
NM_206965.2(FTCD):c.998_1002del (p.Arg333fs)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.