ClinVar Miner

List of variants studied for Cockayne syndrome type A by OMIM

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Total variants: 5
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ERCC8, 279-BP DEL, 81-BP DEL
NM_000082.3(ERCC8):c.37G>T (p.Glu13Ter) rs121434324
NM_000082.3(ERCC8):c.479C>T (p.Ala160Val) rs121434325
NM_000082.3(ERCC8):c.613G>C (p.Ala205Pro) rs121434326
NM_000082.3(ERCC8):c.966C>A (p.Tyr322Ter) rs121434323

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