ClinVar Miner

List of variants studied for Cockayne syndrome type 2 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354 0.00009
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901 0.00005
NM_000124.4(ERCC6):c.1638G>T (p.Leu546Phe)
NM_000124.4(ERCC6):c.1669C>G (p.Arg557Gly)
NM_000124.4(ERCC6):c.1685+5G>A
NM_000124.4(ERCC6):c.1914del (p.Arg637_Tyr638insTer)
NM_000124.4(ERCC6):c.4177del (p.Lys1392_Met1393insTer) rs1850531575
NM_001277058.2(ERCC6):c.2758A>G (p.Met920Val)

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