ClinVar Miner

List of variants studied for mitochondrial complex deficiency by Genomic Medicine Lab, University of California San Francisco

Included ClinVar conditions (92):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter) rs121908576 0.00030
NM_001079866.2(BCS1L):c.269G>A (p.Arg90His) rs747956412 0.00004

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