List of variants in gene ERCC8, NDUFAF2 studied for Cockayne syndrome type 1

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000082.4(ERCC8):c.37G>T (p.Glu13Ter)	rs121434324	0.00005
NM_174889.5(NDUFAF2):c.114C>G (p.Tyr38Ter)	rs199754807	0.00003
NM_174889.5(NDUFAF2):c.18T>G (p.Asp6Glu)	rs886060726	0.00001
NC_000005.9:g.60164820_60244992del
NM_174889.5(NDUFAF2):c.109C>T (p.Gln37Ter)	rs1554076325
NM_174889.5(NDUFAF2):c.13C>T (p.Gln5Ter)	rs772489808

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