List of variants reported as pathogenic for medium chain acyl-CoA dehydrogenase deficiency by Counsyl

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000016.6(ACADM):c.244dup (p.Trp82fs)	rs786204566	0.00002
NM_000016.6(ACADM):c.1194+1G>A	rs769331400	0.00001
NM_000016.6(ACADM):c.946-2A>C	rs758753966	0.00001
NM_000016.6(ACADM):c.387+1G>A	rs1057516983
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

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