ClinVar Miner

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

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_000082.3(ERCC8):c.-260G>A rs772489808
NM_000082.3(ERCC8):c.-356G>A rs1554076325
NM_174889.4(NDUFAF2):c.114C>G (p.Tyr38Ter) rs199754807
NM_174889.4(NDUFAF2):c.18T>G (p.Asp6Glu) rs886060726

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