ClinVar Miner

List of variants in gene QRSL1 reported as benign for Combined oxidative phosphorylation deficiency 40

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Gene type:
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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_018292.5(QRSL1):c.381-47A>C rs9486434 0.43311
NM_018292.5(QRSL1):c.1425G>A (p.Leu475=) rs2015205 0.43247
NM_018292.5(QRSL1):c.557+49_557+50del rs3040665

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