ClinVar Miner

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

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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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