List of variants in gene combination ACADVL, LOC130060113 reported as uncertain significance for Very long chain acyl-CoA dehydrogenase deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 25

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000018.4(ACADVL):c.63-35G>A	rs774905326	0.00053
NM_000018.4(ACADVL):c.121G>A (p.Ala41Thr)	rs367705640	0.00021
NM_000018.4(ACADVL):c.114G>C (p.Arg38=)	rs777380964	0.00009
NM_000018.4(ACADVL):c.62+18G>A	rs780776419	0.00006
NM_000018.4(ACADVL):c.109C>T (p.Arg37Trp)	rs536992268	0.00004
NM_000018.4(ACADVL):c.138G>A (p.Gln46=)	rs775956800	0.00004
NM_000018.4(ACADVL):c.100G>A (p.Gly34Ser)	rs781061205	0.00001
NM_000018.4(ACADVL):c.130G>A (p.Ala44Thr)	rs573810960	0.00001
NM_000018.4(ACADVL):c.134C>T (p.Ala45Val)	rs2071124062	0.00001
NM_000018.4(ACADVL):c.62+20G>A	rs369163211	0.00001
NM_000018.4(ACADVL):c.63-18A>G	rs1481782237	0.00001
NM_000018.4(ACADVL):c.91C>T (p.Pro31Ser)	rs1487946294	0.00001
NM_000018.4(ACADVL):c.95G>A (p.Arg32Gln)	rs754806489	0.00001
NM_000018.4(ACADVL):c.107C>T (p.Ala36Val)	rs1165915680
NM_000018.4(ACADVL):c.110G>A (p.Arg37Gln)	rs2508236993
NM_000018.4(ACADVL):c.119A>G (p.Tyr40Cys)	rs2508237308
NM_000018.4(ACADVL):c.127G>A (p.Gly43Ser)	rs1471931640
NM_000018.4(ACADVL):c.138+2dup	rs1555527548
NM_000018.4(ACADVL):c.138+5G>A	rs2071124642
NM_000018.4(ACADVL):c.64T>C (p.Ser22Pro)	rs1950796544
NM_000018.4(ACADVL):c.65C>G (p.Ser22Trp)	rs727503788
NM_000018.4(ACADVL):c.65C>T (p.Ser22Leu)	rs727503788
NM_000018.4(ACADVL):c.68G>T (p.Arg23Leu)	rs34153370
NM_000018.4(ACADVL):c.79C>T (p.Leu27Phe)	rs1597516267
NM_000018.4(ACADVL):c.86G>A (p.Gly29Glu)	rs1247979958

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.