ClinVar Miner

List of variants in gene ERCC8, NDUFAF2 studied for Cockayne syndrome type A

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Total variants: 6
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NM_000082.3(ERCC8):c.37G>T (p.Glu13Ter) rs121434324
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

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