List of variants in gene ERCC8 reported as uncertain significance by Counsyl

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000082.4(ERCC8):c.613G>C (p.Ala205Pro)	rs121434326	0.00006
NM_000082.4(ERCC8):c.1095dup (p.Tyr366fs)	rs750622098	0.00001
NM_000082.4(ERCC8):c.1137del (p.Gln380fs)	rs1343747301	0.00001
NM_000082.4(ERCC8):c.478G>A (p.Ala160Thr)	rs281875222	0.00001
NM_000082.4(ERCC8):c.479C>T (p.Ala160Val)	rs121434325	0.00001
NM_000082.4(ERCC8):c.1006del (p.Thr336fs)	rs1554072703
NM_000082.4(ERCC8):c.1125del (p.Thr376fs)	rs1554071508
NM_000082.4(ERCC8):c.1181AAG[1] (p.Glu395del)	rs754890794
NM_000082.4(ERCC8):c.1186_*1del (p.Gly396fs)	rs1554071495
NM_000082.4(ERCC8):c.439CAT[1] (p.His148del)	rs1249878855
NM_000082.4(ERCC8):c.562_564del (p.Glu188del)	rs1404307838

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