List of variants in gene ACADVL reported as likely pathogenic for not provided

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: 43

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln)	rs398123084	0.00014
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala)	rs904631654	0.00011
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr)	rs138834083	0.00009
NM_000018.4(ACADVL):c.520G>A (p.Val174Met)	rs369560930	0.00009
NM_000018.4(ACADVL):c.1076C>T (p.Ala359Val)	rs539029862	0.00003
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys)	rs771874163	0.00003
NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln)	rs534647044	0.00003
NM_000018.4(ACADVL):c.1077G>A (p.Ala359=)	rs779458466	0.00002
NM_000018.4(ACADVL):c.1504C>G (p.Leu502Val)	rs779901247	0.00002
NM_000018.4(ACADVL):c.485G>A (p.Arg162His)	rs754756970	0.00002
NM_000018.4(ACADVL):c.1013A>G (p.Asn338Ser)	rs956279629	0.00001
NM_000018.4(ACADVL):c.1146G>C (p.Lys382Asn)	rs1057523504	0.00001
NM_000018.4(ACADVL):c.1183-15A>G	rs765390290	0.00001
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His)	rs118204016	0.00001
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu)	rs200366828	0.00001
NM_000018.4(ACADVL):c.1748C>T (p.Ser583Leu)	rs1085307648	0.00001
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp)	rs1057520088	0.00001
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser)	rs545215807	0.00001
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg)	rs398123091	0.00001
NM_000018.4(ACADVL):c.753-2A>C	rs398123092	0.00001
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu)	rs200573371	0.00001
NM_000018.4(ACADVL):c.1019G>T (p.Gly340Val)	rs934797393
NM_000018.4(ACADVL):c.1078-1G>C
NM_000018.4(ACADVL):c.1106T>C (p.Phe369Ser)	rs398123080
NM_000018.4(ACADVL):c.1243GCC[1] (p.Ala416del)
NM_000018.4(ACADVL):c.1612del (p.Arg538fs)	rs1555528937
NM_000018.4(ACADVL):c.1678+3_1678+6del	rs759135941
NM_000018.4(ACADVL):c.1878G>A (p.Trp626Ter)	rs1555529186
NM_000018.4(ACADVL):c.436G>C (p.Val146Leu)	rs398123089
NM_000018.4(ACADVL):c.473C>A (p.Thr158Asn)
NM_000018.4(ACADVL):c.481G>A (p.Ala161Thr)	rs375284481
NM_000018.4(ACADVL):c.482C>T (p.Ala161Val)	rs796051908
NM_000018.4(ACADVL):c.533T>C (p.Leu178Pro)	rs1131691808
NM_000018.4(ACADVL):c.554G>C (p.Gly185Ala)	rs1555528181
NM_000018.4(ACADVL):c.565_587del (p.Ile189fs)	rs1258134795
NM_000018.4(ACADVL):c.566T>C (p.Ile189Thr)	rs1567563311
NM_000018.4(ACADVL):c.573_580delinsTTT (p.Gly193fs)	rs1555528188
NM_000018.4(ACADVL):c.602_603del (p.Tyr201fs)	rs1064796104
NM_000018.4(ACADVL):c.62+6T>C	rs1555527495
NM_000018.4(ACADVL):c.664G>C (p.Gly222Arg)	rs398123091
NM_000018.4(ACADVL):c.855G>C (p.Glu285Asp)	rs201509063
NM_000018.4(ACADVL):c.869dup (p.Ile291fs)	rs886044671
NM_000018.4(ACADVL):c.889_891del (p.Glu297del)	rs796051914

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.