List of variants studied for Cockayne syndrome type 2 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.2839C>T (p.Arg947Ter)	rs906755254	0.00004
NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter)	rs771781694	0.00003
NM_000124.4(ERCC6):c.4063-1G>C	rs766980240	0.00002
NM_000124.4(ERCC6):c.2143G>T (p.Gly715Ter)	rs780538788	0.00001
NM_000124.4(ERCC6):c.2569C>T (p.Arg857Ter)	rs751448793	0.00001
NM_000124.4(ERCC6):c.2058G>A (p.Trp686Ter)	rs751292948

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