List of variants in gene ACADVL reported as likely pathogenic by Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine

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

Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp)	rs146379816	0.00039
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala)	rs904631654	0.00011
NM_000018.4(ACADVL):c.521T>C (p.Val174Ala)	rs372684079	0.00003
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg)	rs398123079	0.00001
NM_000018.4(ACADVL):c.1533-2A>C	rs996348255	0.00001
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr)	rs727503791	0.00001
NM_000018.4(ACADVL):c.622G>A (p.Gly208Arg)	rs748329498	0.00001
NM_000018.4(ACADVL):c.751A>G (p.Ser251Gly)	rs749159573	0.00001
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu)	rs200573371	0.00001
NM_000018.4(ACADVL):c.1046C>A (p.Ala349Glu)	rs1227564457
NM_000018.4(ACADVL):c.1049G>T (p.Gly350Val)	rs1343647718
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro)	rs776063244
NM_000018.4(ACADVL):c.1241A>C (p.Glu414Ala)	rs1597534120
NM_000018.4(ACADVL):c.1310T>C (p.Met437Thr)	rs2071345821
NM_000018.4(ACADVL):c.1375C>G (p.Arg459Gly)	rs766742117
NM_000018.4(ACADVL):c.1557del (p.Ser520fs)	rs2071373150
NM_000018.4(ACADVL):c.260T>C (p.Val87Ala)	rs796051907
NM_000018.4(ACADVL):c.294_297del (p.Gln98fs)	rs2071168842
NM_000018.4(ACADVL):c.513C>G (p.Asp171Glu)	rs2071227581
NM_000018.4(ACADVL):c.533T>C (p.Leu178Pro)	rs1131691808
NM_000018.4(ACADVL):c.640T>G (p.Phe214Val)	rs1192969297
NM_000018.4(ACADVL):c.676del (p.Ala226fs)	rs2071254166

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