List of variants studied for Medium-chain acyl-coenzyme A dehydrogenase deficiency by Integrated Genetics/Laboratory Corporation of America

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Total variants: 17

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HGVS	dbSNP
NM_000016.5(ACADM):c.1114dup (p.Ala372fs)	rs1057516278
NM_000016.5(ACADM):c.1194+1G>A	rs769331400
NM_000016.5(ACADM):c.244dup (p.Trp82fs)	rs786204566
NM_000016.5(ACADM):c.387+1G>A	rs1057516983
NM_000016.5(ACADM):c.387+1del	rs786204424
NM_000016.5(ACADM):c.431_434del (p.Lys144fs)	rs1057517356
NM_000016.5(ACADM):c.443G>A (p.Arg148Lys)	rs778906552
NM_000016.5(ACADM):c.449_452del (p.Thr150fs)	rs786204642
NM_000016.5(ACADM):c.454G>T (p.Glu152Ter)	rs1557446524
NM_000016.5(ACADM):c.583G>A (p.Gly195Arg)	rs121434278
NM_000016.5(ACADM):c.799G>A (p.Gly267Arg)	rs121434274
NM_000016.5(ACADM):c.913G>T (p.Glu305Ter)	rs1215335509
NM_000016.5(ACADM):c.928G>A (p.Gly310Arg)	rs747268471
NM_000016.5(ACADM):c.999_1011dup (p.Gln338Ter)	rs1225471006
NM_000016.6(ACADM):c.199T>C (p.Tyr67His)	rs121434280
NM_000016.6(ACADM):c.85C>T (p.Arg29Ter)
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)	rs77931234

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