ClinVar Miner

List of variants studied for glutaryl-CoA dehydrogenase deficiency by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (1):
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000159.4(GCDH):c.1213A>G (p.Met405Val) rs141437721 0.00018
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr) rs121434371 0.00011
NM_000159.4(GCDH):c.1063C>T (p.Arg355Cys) rs781477694 0.00004
NM_000159.4(GCDH):c.1093G>A (p.Glu365Lys) rs121434370 0.00004
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr) rs567564095 0.00003
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp) rs766518430 0.00003
NM_000159.4(GCDH):c.536T>G (p.Leu179Arg) rs774526353 0.00002
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp) rs779315456 0.00002
NM_000159.4(GCDH):c.368A>G (p.Tyr123Cys) rs780976048 0.00001
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln) rs777201305 0.00001
NM_000159.4(GCDH):c.914C>T (p.Ser305Leu) rs1260580183 0.00001
NM_000159.4(GCDH):c.1060G>C (p.Gly354Arg)
NM_000159.4(GCDH):c.1208A>G (p.His403Arg)
NM_000159.4(GCDH):c.1243+1G>T rs1970723970
NM_000159.4(GCDH):c.235C>T (p.Leu79Phe)
NM_000159.4(GCDH):c.644delinsCTCG (p.Asn215delinsThrArg)
NM_000159.4(GCDH):c.853-2A>G rs1057517410
NM_000159.4(GCDH):c.91+5G>T rs952356983

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