ClinVar Miner

List of variants in gene ETFDH reported as uncertain significance for Glutaric acidemia type 2C

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004453.4(ETFDH):c.973-8T>C rs371843463 0.00006
NM_004453.4(ETFDH):c.1084G>A (p.Gly362Arg) rs369711837 0.00003
NM_004453.4(ETFDH):c.1560A>C (p.Ser520=) rs566844923 0.00003
NM_004453.4(ETFDH):c.88G>A (p.Ala30Thr) rs1340326448 0.00003
NM_004453.4(ETFDH):c.1005T>G (p.Ser335Arg) rs1452265763 0.00001
NM_004453.4(ETFDH):c.1255A>T (p.Thr419Ser) rs574791445 0.00001
NM_004453.4(ETFDH):c.1333T>C (p.Trp445Arg) rs1156517377 0.00001
NM_004453.4(ETFDH):c.1334G>T (p.Trp445Leu) rs763536356 0.00001
NM_004453.4(ETFDH):c.186G>C (p.Met62Ile) rs1185220863 0.00001
NM_004453.4(ETFDH):c.256C>T (p.Arg86Cys) rs1242099513 0.00001
NM_004453.4(ETFDH):c.689C>T (p.Thr230Ile) rs999532162 0.00001
NM_004453.4(ETFDH):c.733G>A (p.Ala245Thr) rs371260517 0.00001
NM_004453.4(ETFDH):c.881C>G (p.Thr294Ser) rs748958949 0.00001
NM_004453.4(ETFDH):c.1118C>T (p.Ser373Phe) rs1774518388
NM_004453.4(ETFDH):c.1336A>C (p.Lys446Gln) rs1431935282
NM_004453.4(ETFDH):c.1360A>G (p.Ile454Val) rs766776740
NM_004453.4(ETFDH):c.152G>A (p.Arg51Gln) rs534388496
NM_004453.4(ETFDH):c.284A>G (p.Glu95Gly) rs1580396806
NM_004453.4(ETFDH):c.334C>A (p.His112Asn) rs1773883564
NM_004453.4(ETFDH):c.376G>A (p.Glu126Lys) rs1773885660
NM_004453.4(ETFDH):c.488-9T>C rs1554031705
NM_004453.4(ETFDH):c.700G>A (p.Gly234Arg) rs1032041993
NM_004453.4(ETFDH):c.807A>C (p.Gln269His) rs1265381182

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.