List of variants in gene combination ERCC6, LOC126860933 reported as uncertain significance 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.2741C>T (p.Thr914Met)	rs142580756	0.00052
NM_000124.4(ERCC6):c.2829+11A>T	rs777251839	0.00005
NM_000124.4(ERCC6):c.2776G>C (p.Ala926Pro)	rs765252538	0.00002
NM_000124.4(ERCC6):c.2828A>C (p.Gln943Pro)
NM_000124.4(ERCC6):c.2905G>A (p.Glu969Lys)	rs886047035

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