ClinVar Miner

List of variants in gene ERCC8, NDUFAF2 studied for DNA repair disease

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 10
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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_000082.3(ERCC8):c.-133C>G rs4647037 0.00723
NM_000082.4(ERCC8):c.37G>T (p.Glu13Ter) rs121434324 0.00005
NM_174889.5(NDUFAF2):c.114C>G (p.Tyr38Ter) rs199754807 0.00003
NM_174889.5(NDUFAF2):c.18T>G (p.Asp6Glu) rs886060726 0.00001
NC_000005.9:g.60164820_60244992del
NM_174889.4(NDUFAF2):c.-91C>T rs4647036
NM_174889.5(NDUFAF2):c.109C>T (p.Gln37Ter) rs1554076325
NM_174889.5(NDUFAF2):c.13C>T (p.Gln5Ter) rs772489808

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