ClinVar Miner

List of variants reported as uncertain significance for Cockayne syndrome type 2 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.1638G>T (p.Leu546Phe)
NM_000124.4(ERCC6):c.1669C>G (p.Arg557Gly)
NM_001277058.2(ERCC6):c.2758A>G (p.Met920Val)

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