ClinVar Miner

List of variants studied for Combined oxidative phosphorylation deficiency 34 by Genome-Nilou Lab

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_015971.4(MRPS7):c.5C>T (p.Ala2Val) rs8075276 0.67348
NM_015971.4(MRPS7):c.83+23C>G rs62085969
NM_015971.4(MRPS7):c.83+23_83+24del rs36039201

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