List of variants in gene ERCC8 reported as pathogenic for Cockayne syndrome type 1; UV-sensitive syndrome 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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000082.4(ERCC8):c.300C>G (p.Tyr100Ter)	rs143367518	0.00004
NM_000082.4(ERCC8):c.1042-2A>G	rs372237310	0.00001
NM_000082.4(ERCC8):c.174C>A (p.Tyr58Ter)	rs530679736	0.00001
NM_000082.4(ERCC8):c.600dup (p.Ile201fs)	rs1468231556	0.00001
NM_000082.4(ERCC8):c.618-1G>A	rs201464610	0.00001
NM_000082.4(ERCC8):c.802C>T (p.Arg268Ter)	rs370657735	0.00001
NM_000082.4(ERCC8):c.223_227del (p.Asn75fs)	rs2112522943
NM_000082.4(ERCC8):c.2T>G (p.Met1Arg)
NM_000082.4(ERCC8):c.370_371del (p.Leu124fs)

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