List of variants in gene ERCC6 reported as benign for Cockayne syndrome type 2

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.1992+32A>G	rs4253162	0.86411
NM_000124.4(ERCC6):c.1821+7C>T	rs4253132	0.84443
NM_000124.4(ERCC6):c.135C>G (p.Leu45=)	rs2228524	0.63279
NM_000124.4(ERCC6):c.2382+33T>C	rs3750749	0.10505
NM_000124.4(ERCC6):c.411G>A (p.Leu137=)	rs4253013	0.10284
NM_000124.4(ERCC6):c.*3823T>C	rs73297748	0.09918
NM_000124.4(ERCC6):c.4322C>T (p.Thr1441Ile)	rs4253230	0.02085
NM_000124.4(ERCC6):c.*2137A>G	rs114723899	0.01395
NM_000124.4(ERCC6):c.3177T>C (p.Ser1059=)	rs4253207	0.01168
NM_000124.4(ERCC6):c.*3395A>C	rs142122327	0.00758
NM_000124.4(ERCC6):c.1146G>A (p.Glu382=)	rs4253045	0.00645
NM_000124.4(ERCC6):c.*1872C>T	rs115281814	0.00637
NM_000124.4(ERCC6):c.3010C>T (p.Leu1004=)	rs2274097	0.00466
NM_000124.4(ERCC6):c.*1275C>G	rs182177140	0.00423
NM_000124.4(ERCC6):c.4114G>A (p.Gly1372Arg)	rs4253227	0.00363
NM_000124.4(ERCC6):c.3965G>T (p.Gly1322Val)	rs4253219	0.00009
NM_000124.4(ERCC6):c.*2946C>T	rs146529081
NM_000124.4(ERCC6):c.3774A>G (p.Lys1258=)	rs35756610

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