ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000159.4(GCDH):c.-35+17A>G rs7251834 0.96351
NM_000159.4(GCDH):c.127+64G>C rs1799918 0.31118
NM_000159.4(GCDH):c.127+48T>C rs3745647 0.04947
NM_000159.4(GCDH):c.38G>A (p.Arg13His) rs550100640 0.00003
NM_000159.4(GCDH):c.127+16C>G rs578242746
NM_000159.4(GCDH):c.128-82T>G rs2242517
NM_000159.4(GCDH):c.87G>A (p.Gln29=) rs878853155

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