List of variants reported as pathogenic for glutaryl-CoA dehydrogenase deficiency by Counsyl

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr)	rs121434371	0.00011
NM_000159.4(GCDH):c.382C>T (p.Arg128Ter)	rs752334462	0.00001
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln)	rs777201305	0.00001
NM_000159.4(GCDH):c.1054C>T (p.Gln352Ter)	rs1555751089
NM_000159.4(GCDH):c.262C>T (p.Arg88Cys)	rs142967670

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