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

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Total variants: 9

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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.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.1247C>T (p.Thr416Ile)	rs121434368
NM_000159.4(GCDH):c.883T>C (p.Tyr295His)	rs121434366
NM_000159.4(GCDH):c.91+5G>T	rs952356983

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