ClinVar Miner

List of variants studied for glutaryl-CoA dehydrogenase deficiency by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000159.4(GCDH):c.335-14C>T rs781650833 0.00005
NM_000159.4(GCDH):c.-47G>A rs952257144

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