List of variants in gene ERCC8 reported as pathogenic for DNA repair disease

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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: 27

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HGVS	dbSNP	gnomAD frequency
NM_000082.4(ERCC8):c.173+1119G>C	rs1043679457	0.00006
NM_000082.4(ERCC8):c.613G>C (p.Ala205Pro)	rs121434326	0.00006
NM_000082.4(ERCC8):c.300C>G (p.Tyr100Ter)	rs143367518	0.00004
NM_000082.4(ERCC8):c.481G>A (p.Val161Ile)	rs148393161	0.00004
NM_000082.4(ERCC8):c.650del (p.Arg217fs)	rs1561502158	0.00003
NM_000082.4(ERCC8):c.1042-1G>A	rs897535441	0.00001
NM_000082.4(ERCC8):c.1042-2A>G	rs372237310	0.00001
NM_000082.4(ERCC8):c.479C>T (p.Ala160Val)	rs121434325	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.769G>A (p.Gly257Arg)	rs770499406	0.00001
NM_000082.4(ERCC8):c.802C>T (p.Arg268Ter)	rs370657735	0.00001
NM_000082.3:c.844_1122del
NM_000082.4(ERCC8):c.1083G>T (p.Trp361Cys)	rs281875221
NM_000082.4(ERCC8):c.141del (p.Asn47fs)	rs786205176
NM_000082.4(ERCC8):c.182C>G (p.Ser61Ter)	rs1749618632
NM_000082.4(ERCC8):c.202A>T (p.Ile68Phe)	rs1749617646
NM_000082.4(ERCC8):c.275+1G>A
NM_000082.4(ERCC8):c.295_297delinsTG (p.Arg99fs)	rs1131691783
NM_000082.4(ERCC8):c.313_314del (p.Val105fs)	rs1404477615
NM_000082.4(ERCC8):c.317_320dup (p.Trp107Ter)	rs1580023012
NM_000082.4(ERCC8):c.394_398del (p.Leu132fs)	rs774542633
NM_000082.4(ERCC8):c.481+1G>C	rs1580007152
NM_000082.4(ERCC8):c.551-1G>A	rs1554073316
NM_000082.4(ERCC8):c.78-2A>T	rs748379243
NM_000082.4(ERCC8):c.966C>A (p.Tyr322Ter)	rs121434323
NM_000082.4:c.[275+768_399+346del;399+347_399+2002inv;399+2003_399+2557delinsTACTTAAT]

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