ClinVar Miner

List of variants in gene combination GCDH, LOC117125594 reported as pathogenic for glutaryl-CoA dehydrogenase deficiency

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000159.4(GCDH):c.127+1G>A rs1473339589 0.00001
NM_000159.4(GCDH):c.148T>G (p.Trp50Gly) rs758646992 0.00001
NM_000159.4(GCDH):c.157C>T (p.Pro53Ser) rs768532620 0.00001
NM_000159.4(GCDH):c.198del (p.Ile67fs) rs1057517088 0.00001
NM_000159.4(GCDH):c.226C>T (p.Gln76Ter) rs898043081 0.00001
NM_000159.4(GCDH):c.109C>T (p.Gln37Ter)
NM_000159.4(GCDH):c.109_110del (p.Gln37fs) rs1970555406
NM_000159.4(GCDH):c.120_123del (p.Ala41fs)
NM_000159.4(GCDH):c.127+1G>T
NM_000159.4(GCDH):c.148T>C (p.Trp50Arg)
NM_000159.4(GCDH):c.149G>A (p.Trp50Ter) rs1970564107
NM_000159.4(GCDH):c.150G>A (p.Trp50Ter) rs1970564149
NM_000159.4(GCDH):c.150G>C (p.Trp50Cys) rs1970564149
NM_000159.4(GCDH):c.167T>C (p.Leu56Pro)
NM_000159.4(GCDH):c.169G>A (p.Glu57Lys)
NM_000159.4(GCDH):c.172G>T (p.Glu58Ter) rs1006150317
NM_000159.4(GCDH):c.192G>T (p.Glu64Asp) rs1555749239
NM_000159.4(GCDH):c.215G>T (p.Arg72Leu)
NM_000159.4(GCDH):c.219del (p.Tyr74fs) rs1057516521
NM_000159.4(GCDH):c.222C>A (p.Tyr74Ter) rs754378464
NM_000159.4(GCDH):c.79del (p.Ala27fs) rs1057516939
NM_000159.4(GCDH):c.8dup (p.Arg4fs) rs2145938175
NM_000159.4(GCDH):c.91+5G>A rs952356983
NM_000159.4(GCDH):c.91G>T (p.Glu31Ter) rs1374072630

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