List of variants reported as likely pathogenic for Very long chain acyl-CoA dehydrogenase deficiency by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln)	rs398123084	0.00014
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg)	rs200788251	0.00014
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr)	rs138834083	0.00009
NM_000018.4(ACADVL):c.760G>A (p.Gly254Ser)	rs765423779	0.00005
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp)	rs745832866	0.00004
NM_000018.4(ACADVL):c.1076C>T (p.Ala359Val)	rs539029862	0.00003
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu)	rs200366828	0.00001
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr)	rs727503791	0.00001
NM_000018.4(ACADVL):c.62G>A (p.Ser21Asn)	rs753922855	0.00001
NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg)	rs886043236
NM_000018.4(ACADVL):c.1532+1G>A	rs727503794
NM_000018.4(ACADVL):c.1882del (p.Gln628fs)	rs1597541142
NM_000018.4(ACADVL):c.533T>C (p.Leu178Pro)	rs1131691808
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr)	rs140629318
NM_000018.4(ACADVL):c.829_831del (p.Glu277del)	rs796051913

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