ClinVar Miner

List of variants reported as uncertain significance for Cockayne syndrome type 2 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.2077T>A (p.Phe693Ile)	rs199921831	0.00006
NM_000124.4(ERCC6):c.1528T>A (p.Tyr510Asn)	rs1464456889

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