List of variants in gene combination ERCC6, LOC126860933 reported as likely pathogenic 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: 5

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.2796T>A (p.Tyr932Ter)
NM_000124.4(ERCC6):c.2800C>A (p.Pro934Thr)	rs1554875536
NM_000124.4(ERCC6):c.2807G>A (p.Trp936Ter)	rs1283213117
NM_000124.4(ERCC6):c.2846G>A (p.Trp949Ter)	rs1850797541
NM_000124.4(ERCC6):c.2881_2882insTCTTCGT (p.Arg961fs)

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