ClinVar Miner

List of variants studied for combined oxidative phosphorylation deficiency 32 by SIB Swiss Institute of Bioinformatics

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_023936.2(MRPS34):c.94C>T (p.Gln32Ter) rs763672163 0.00071
NM_023936.2(MRPS34):c.37G>A (p.Glu13Lys) rs1131692037

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