ClinVar Miner

List of variants reported as pathogenic for Cockayne syndrome type 1 by Counsyl

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000082.4(ERCC8):c.313_314del (p.Val105fs)	rs1404477615
NM_000082.4(ERCC8):c.394_398del (p.Leu132fs)	rs774542633
NM_000082.4(ERCC8):c.551-1G>A	rs1554073316

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