List of variants in gene ERCC8 reported as likely pathogenic for not provided

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 33

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HGVS	dbSNP	gnomAD frequency
NM_000082.4(ERCC8):c.173+1119G>C	rs1043679457	0.00006
NM_000082.4(ERCC8):c.481G>A (p.Val161Ile)	rs148393161	0.00004
NM_000082.4(ERCC8):c.399+1G>A	rs774047625	0.00003
NM_000082.4(ERCC8):c.650del (p.Arg217fs)	rs1561502158	0.00003
NM_000082.4(ERCC8):c.1042-2A>G	rs372237310	0.00001
NM_000082.4(ERCC8):c.173+1G>A	rs1476095782	0.00001
NM_000082.4(ERCC8):c.479C>T (p.Ala160Val)	rs121434325	0.00001
NM_000082.4(ERCC8):c.769G>A (p.Gly257Arg)	rs770499406	0.00001
NM_000082.4(ERCC8):c.797A>G (p.Asp266Gly)	rs281875225	0.00001
NC_000005.9:g.(?_60214072)_(60214235_?)dup
NM_000082.3(ERCC8):c.78_79del	rs2112532350
NM_000082.4(ERCC8):c.1016G>A (p.Cys339Tyr)	rs786205573
NM_000082.4(ERCC8):c.1053del (p.Ser351fs)	rs1748431071
NM_000082.4(ERCC8):c.173+2T>A
NM_000082.4(ERCC8):c.173+3_173+6del
NM_000082.4(ERCC8):c.174-1G>A	rs551105507
NM_000082.4(ERCC8):c.174-1G>T	rs551105507
NM_000082.4(ERCC8):c.275+1G>T	rs2112522829
NM_000082.4(ERCC8):c.276-1G>A	rs1188760861
NM_000082.4(ERCC8):c.276-2A>G	rs1554074597
NM_000082.4(ERCC8):c.317_320dup (p.Trp107Ter)	rs1580023012
NM_000082.4(ERCC8):c.350C>A (p.Ser117Ter)	rs545036754
NM_000082.4(ERCC8):c.400-1G>A	rs1057520280
NM_000082.4(ERCC8):c.427del (p.Thr143fs)
NM_000082.4(ERCC8):c.482-2A>G	rs1554073420
NM_000082.4(ERCC8):c.482-2A>T	rs1554073420
NM_000082.4(ERCC8):c.550+1_550+2del
NM_000082.4(ERCC8):c.550G>A (p.Gly184Ser)
NM_000082.4(ERCC8):c.580T>C (p.Trp194Arg)	rs1554073311
NM_000082.4(ERCC8):c.600T>A (p.Tyr200Ter)	rs1554073309
NM_000082.4(ERCC8):c.611C>A (p.Thr204Lys)	rs1211144774
NM_000082.4(ERCC8):c.719-1G>A
NM_000082.4(ERCC8):c.77+2T>G	rs1554076239

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