ClinVar Miner

List of variants studied for Cockayne syndrome type 2 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 3
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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
NM_000124.4(ERCC6):c.2551T>A (p.Trp851Arg) rs368728467

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