ClinVar Miner

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

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NC_000005.9:g.60164820_60244992del
NM_174889.4(NDUFAF2):c.-91C>T rs4647036
NM_174889.4(NDUFAF2):c.-97A>G rs158922
NM_174889.5(NDUFAF2):c.109C>T (p.Gln37Ter) rs1554076325
NM_174889.5(NDUFAF2):c.114C>G (p.Tyr38Ter) rs199754807
NM_174889.5(NDUFAF2):c.13C>T (p.Gln5Ter) rs772489808
NM_174889.5(NDUFAF2):c.18T>G (p.Asp6Glu) rs886060726
NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=) rs158921

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