List of variants studied for Very long chain acyl-CoA dehydrogenase deficiency by Mendelics

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys)	rs2230180	0.00920
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln)	rs398123084	0.00014
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser)	rs758928307	0.00001
NM_000018.4(ACADVL):c.853G>C (p.Glu285Gln)	rs202216257	0.00001
NM_000018.4(ACADVL):c.1292A>G (p.Asp431Gly)	rs2142985073
NM_000018.4(ACADVL):c.1322G>C (p.Gly441Ala)	rs2309689
NM_000018.4(ACADVL):c.1367G>A (p.Arg456His)	rs794727112
NM_000018.4(ACADVL):c.1752-1G>A	rs2142990593
NM_000018.4(ACADVL):c.199A>T (p.Lys67Ter)	rs765432568
NM_000018.4(ACADVL):c.865G>C (p.Gly289Arg)	rs200788251

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