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

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Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)	rs77931234	0.00363
NM_000016.6(ACADM):c.199T>C (p.Tyr67His)	rs121434280	0.00073
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly)	rs201375579	0.00017
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)	rs121434274	0.00013
NM_000016.6(ACADM):c.250C>T (p.Leu84Phe)	rs762114560	0.00007
NM_000016.6(ACADM):c.583G>A (p.Gly195Arg)	rs121434278	0.00007
NM_000016.6(ACADM):c.157C>T (p.Arg53Cys)	rs398123072	0.00003
NM_000016.6(ACADM):c.426del (p.Lys143fs)	rs777998984	0.00003
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys)	rs778906552	0.00003
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg)	rs747268471	0.00003
NM_000016.6(ACADM):c.984del (p.Met328fs)	rs747610156	0.00002
NM_000016.6(ACADM):c.1012C>T (p.Gln338Ter)	rs796051896	0.00001
NM_000016.6(ACADM):c.216+2T>C	rs398123073	0.00001
NM_000016.6(ACADM):c.347G>A (p.Cys116Tyr)	rs875989859	0.00001
NM_000016.6(ACADM):c.362C>T (p.Thr121Ile)	rs121434283	0.00001
NM_000016.6(ACADM):c.464T>C (p.Met155Thr)	rs875989876	0.00001
NM_000016.6(ACADM):c.609A>C (p.Leu203Phe)	rs751829413	0.00001
NM_000016.6(ACADM):c.1102_1105del (p.Ala369fs)	rs387906297
NM_000016.6(ACADM):c.1221_1222del (p.Arg408fs)	rs875989860
NM_000016.6(ACADM):c.232dup (p.Ile78fs)	rs2100363479
NM_000016.6(ACADM):c.322_325del (p.Ile108fs)	rs875989873
NM_000016.6(ACADM):c.387+1del	rs786204424
NM_000016.6(ACADM):c.449_452del (p.Thr150fs)	rs786204642
NM_000016.6(ACADM):c.469-1G>A	rs875989869
NM_000016.6(ACADM):c.742A>G (p.Arg248Gly)	rs875989867
NM_000016.6(ACADM):c.817_829del (p.Ala273fs)	rs875989872
NM_000016.6(ACADM):c.881G>C (p.Arg294Thr)	rs779759347
NM_000016.6(ACADM):c.957_958del (p.Ser320fs)	rs1057517103
NM_000016.6(ACADM):c.985A>C (p.Lys329Gln)	rs77931234

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