ClinVar Miner

List of variants in gene combination ERCC8, NDUFAF2 reported as benign for Cockayne syndrome

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_174889.4(NDUFAF2):c.-97A>G rs158922 0.66969
NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=) rs158921 0.63042
NM_174889.4(NDUFAF2):c.-91C>T rs4647036

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