List of variants reported as pathogenic for glutaryl-CoA dehydrogenase deficiency by Illumina Laboratory Services, Illumina

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000159.4(GCDH):c.1262C>T (p.Ala421Val)	rs121434367	0.00027
NM_000159.4(GCDH):c.680G>C (p.Arg227Pro)	rs121434373	0.00026
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)	rs121434369	0.00019
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr)	rs121434371	0.00011
NM_000159.4(GCDH):c.1156C>T (p.Arg386Ter)	rs752127949	0.00001
NM_000159.4(GCDH):c.356C>T (p.Ser119Leu)	rs886043840	0.00001
NM_000159.4(GCDH):c.262C>T (p.Arg88Cys)	rs142967670

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