List of variants in gene ACADVL reported as likely pathogenic by GeneDx

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: 24

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HGVS	dbSNP	gnomAD frequency
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala)	rs904631654	0.00011
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.1748C>G (p.Ser583Trp)	rs1085307648	0.00003
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.1388G>A (p.Gly463Glu)	rs200366828	0.00001
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp)	rs1057520088	0.00001
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg)	rs398123091	0.00001
NM_000018.4(ACADVL):c.1019G>T (p.Gly340Val)	rs934797393
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.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.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.889_891del (p.Glu297del)	rs796051914

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