List of variants reported as pathogenic for Cockayne syndrome type 2 by Claritas Genomics

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Total variants: 16

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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.2599-26A>G	rs4253196	0.00006
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter)	rs121917901	0.00005
NM_000124.4(ERCC6):c.1526+1G>T	rs371739894	0.00001
NM_000124.4(ERCC6):c.2008C>T (p.Arg670Trp)	rs202080674	0.00001
NM_000124.4(ERCC6):c.2830-2A>G	rs373227647	0.00001
NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs)	rs786205171	0.00001
NM_000124.3(ERCC6):c.1684_1705del
NM_000124.4(ERCC6):c.1280dup (p.Ser429fs)	rs786205166
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter)	rs121917902
NM_000124.4(ERCC6):c.1850dup (p.Cys617fs)	rs786205167
NM_000124.4(ERCC6):c.1999del (p.Thr667fs)	rs786205169
NM_000124.4(ERCC6):c.3412dup (p.Thr1138fs)	rs786205170
NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs)	rs786205172
NM_000124.4(ERCC6):c.3904C>T (p.Gln1302Ter)	rs786205174
NM_000124.4(ERCC6):c.4007del (p.Asn1336fs)	rs786205175

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