List of variants reported as pathogenic for glutaryl-CoA dehydrogenase deficiency by Fulgent Genetics, Fulgent Genetics

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Total variants: 14

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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.572T>C (p.Met191Thr)	rs149120354	0.00018
NM_000159.4(GCDH):c.1198G>A (p.Val400Met)	rs121434372	0.00014
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr)	rs121434371	0.00011
NM_000159.4(GCDH):c.1093G>A (p.Glu365Lys)	rs121434370	0.00004
NM_000159.4(GCDH):c.1244-2A>C	rs199999619	0.00003
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp)	rs766518430	0.00003
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu)	rs139851890	0.00001
NM_000159.4(GCDH):c.532G>A (p.Gly178Arg)	rs749452002	0.00001
NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln)	rs786204626
NM_000159.4(GCDH):c.262C>T (p.Arg88Cys)	rs142967670
NM_000159.4(GCDH):c.675G>A (p.Trp225Ter)	rs786205862

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