ClinVar Miner

List of variants in gene ETFDH reported as likely pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 63
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004453.4(ETFDH):c.1514T>C (p.Ile505Thr) rs764164607 0.00005
NM_004453.4(ETFDH):c.1657T>C (p.Tyr553His) rs182913453 0.00004
NM_004453.4(ETFDH):c.406-1G>A rs750189181 0.00004
NM_004453.4(ETFDH):c.1084G>A (p.Gly362Arg) rs369711837 0.00003
NM_004453.4(ETFDH):c.169T>C (p.Trp57Arg) rs1773829495 0.00001
NM_004453.4(ETFDH):c.176-2A>T rs1485038306 0.00001
NM_004453.4(ETFDH):c.1786G>A (p.Asp596Asn) rs1165102742 0.00001
NM_004453.4(ETFDH):c.296G>A (p.Arg99His) rs376630579 0.00001
NM_004453.4(ETFDH):c.350C>A (p.Ala117Asp) rs1773884764 0.00001
NM_004453.4(ETFDH):c.679C>A (p.Pro227Thr) rs141407224 0.00001
NM_004453.4(ETFDH):c.814G>A (p.Gly272Arg) rs763541530 0.00001
NC_000004.11:g.(?_159601599)_(159620302_?)dup
NC_000004.11:g.(?_159601609)_(159620292_?)dup
NM_004453.4(ETFDH):c.1001T>G (p.Leu334Arg) rs377686388
NM_004453.4(ETFDH):c.1066G>A (p.Gly356Arg) rs2150312288
NM_004453.4(ETFDH):c.1082A>G (p.Tyr361Cys) rs2150312299
NM_004453.4(ETFDH):c.1099A>G (p.Asn367Asp) rs2150312312
NM_004453.4(ETFDH):c.1116+2T>C rs1561247874
NM_004453.4(ETFDH):c.1117-1G>A rs1774518252
NM_004453.4(ETFDH):c.1117-2A>G
NM_004453.4(ETFDH):c.1142G>A (p.Gly381Asp)
NM_004453.4(ETFDH):c.1210A>C (p.Met404Leu)
NM_004453.4(ETFDH):c.1210A>T (p.Met404Leu)
NM_004453.4(ETFDH):c.1335G>C (p.Trp445Cys)
NM_004453.4(ETFDH):c.1354A>G (p.Arg452Gly) rs1580422659
NM_004453.4(ETFDH):c.1366C>G (p.Pro456Ala) rs751821289
NM_004453.4(ETFDH):c.1400G>A (p.Gly467Glu)
NM_004453.4(ETFDH):c.1415G>C (p.Gly472Ala) rs768181815
NM_004453.4(ETFDH):c.1469-1G>T rs1561251640
NM_004453.4(ETFDH):c.152G>C (p.Arg51Pro) rs534388496
NM_004453.4(ETFDH):c.152G>T (p.Arg51Leu) rs534388496
NM_004453.4(ETFDH):c.1586A>G (p.His529Arg) rs2126316486
NM_004453.4(ETFDH):c.1587T>G (p.His529Gln)
NM_004453.4(ETFDH):c.1691-2_1691-1delinsGA
NM_004453.4(ETFDH):c.176-1G>A
NM_004453.4(ETFDH):c.1762C>T (p.His588Tyr) rs1225042876
NM_004453.4(ETFDH):c.1810G>A (p.Val604Met) rs1436514087
NM_004453.4(ETFDH):c.1811T>A (p.Val604Glu) rs2126321188
NM_004453.4(ETFDH):c.1834C>A (p.Pro612Thr)
NM_004453.4(ETFDH):c.296G>C (p.Arg99Pro) rs376630579
NM_004453.4(ETFDH):c.379C>T (p.Leu127Phe)
NM_004453.4(ETFDH):c.405+1G>T rs2150305321
NM_004453.4(ETFDH):c.406-2A>G rs2150306282
NM_004453.4(ETFDH):c.412C>T (p.Leu138Phe)
NM_004453.4(ETFDH):c.485_487+13del rs1773956317
NM_004453.4(ETFDH):c.487+1G>A rs1444488601
NM_004453.4(ETFDH):c.487+2T>A
NM_004453.4(ETFDH):c.487+2T>G
NM_004453.4(ETFDH):c.488-1G>T rs2150306551
NM_004453.4(ETFDH):c.606+1G>A rs1241072742
NM_004453.4(ETFDH):c.607-1G>A
NM_004453.4(ETFDH):c.607-1G>T rs760251231
NM_004453.4(ETFDH):c.607-2A>G
NM_004453.4(ETFDH):c.684+2T>G rs1580406119
NM_004453.4(ETFDH):c.685-1G>A
NM_004453.4(ETFDH):c.725C>T (p.Thr242Ile)
NM_004453.4(ETFDH):c.769T>C (p.Tyr257His) rs1441657866
NM_004453.4(ETFDH):c.806A>T (p.Gln269Leu) rs776320810
NM_004453.4(ETFDH):c.831+2T>G
NM_004453.4(ETFDH):c.831+3A>C rs1426349276
NM_004453.4(ETFDH):c.832-1G>A
NM_004453.4(ETFDH):c.973-1G>A rs1580415323
NM_004453.4(ETFDH):c.973-2A>G rs2150312193

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.