List of variants reported as pathogenic for glutaryl-CoA dehydrogenase deficiency by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp)	rs779315456	0.00002
NM_000159.4(GCDH):c.764C>T (p.Ser255Leu)	rs758503371	0.00001
NM_000159.4(GCDH):c.770G>A (p.Arg257Gln)	rs751583656	0.00001
NM_000159.4(GCDH):c.914C>T (p.Ser305Leu)	rs1260580183	0.00001
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln)	rs566417795
NM_000159.4(GCDH):c.675G>A (p.Trp225Ter)	rs786205862

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