ClinVar Miner

List of variants reported as benign for glutaryl-CoA dehydrogenase deficiency by Genome-Nilou Lab

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
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.*165A>G rs8012 0.64188
NM_000159.4(GCDH):c.*288G>T rs9384 0.33464
NM_000159.4(GCDH):c.127+64G>C rs1799918 0.31118
NM_000159.4(GCDH):c.1173G>T (p.Gly391=) rs1060218 0.30844
NM_000159.4(GCDH):c.127+48T>C rs3745647 0.04947
NM_000159.4(GCDH):c.128-82T>G rs2242517

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