ClinVar Miner

List of variants reported as uncertain significance for inborn mitochondrial metabolism disorder by Institute for Genomic Medicine, Nationwide Children's Hospital

Included ClinVar conditions (412):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_013247.5(HTRA2):c.1037A>T (p.Glu346Val)
NM_013247.5(HTRA2):c.1172T>A (p.Val391Glu)

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