List of variants reported as pathogenic for Medium-chain acyl-coenzyme A dehydrogenase deficiency by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 31

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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.600-18G>A	rs370523609	0.00051
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.1189T>A (p.Tyr397Asn)	rs759158371	0.00004
NM_000016.6(ACADM):c.1045C>T (p.Arg349Ter)	rs148207467	0.00003
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys)	rs778906552	0.00003
NM_000016.6(ACADM):c.233T>C (p.Ile78Thr)	rs398123074	0.00002
NM_000016.6(ACADM):c.244dup (p.Trp82fs)	rs786204566	0.00002
NM_000016.6(ACADM):c.580A>G (p.Asn194Asp)	rs773677327	0.00002
NM_000016.6(ACADM):c.757G>A (p.Glu253Lys)	rs768884003	0.00002
NM_000016.6(ACADM):c.1194+1G>A	rs769331400	0.00001
NM_000016.6(ACADM):c.362C>T (p.Thr121Ile)	rs121434283	0.00001
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys)	rs373715782	0.00001
NM_000016.6(ACADM):c.698T>C (p.Ile233Thr)	rs770273135	0.00001
NM_000016.6(ACADM):c.85C>T (p.Arg29Ter)	rs745793409	0.00001
NM_000016.6(ACADM):c.946-2A>C	rs758753966	0.00001
NC_000001.10:g.(76216232_76226806)_(76229365_?)del
NM_000016.6(ACADM):c.1010A>C (p.Tyr337Ser)	rs1323513432
NM_000016.6(ACADM):c.1102_1105del (p.Ala369fs)	rs387906297
NM_000016.6(ACADM):c.1114dup (p.Ala372fs)	rs1057516278
NM_000016.6(ACADM):c.1189dup (p.Tyr397fs)	rs875989877
NM_000016.6(ACADM):c.253G>C (p.Gly85Arg)	rs398123075
NM_000016.6(ACADM):c.387+1G>A	rs1057516983
NM_000016.6(ACADM):c.387+1del	rs786204424
NM_000016.6(ACADM):c.431_434del (p.Lys144fs)	rs1057517356
NM_000016.6(ACADM):c.449_452del (p.Thr150fs)	rs786204642
NM_000016.6(ACADM):c.946-6T>G	rs765793260
NM_000016.6(ACADM):c.999_1011dup (p.Gln338Ter)	rs1225471006

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