List of variants in gene ERCC8 reported as uncertain significance for Cockayne syndrome type 1

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: 49

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HGVS	dbSNP	gnomAD frequency
NM_000082.4(ERCC8):c.839C>A (p.Thr280Lys)	rs61754098	0.00199
NM_000082.4(ERCC8):c.66G>A (p.Glu22=)	rs149130938	0.00090
NM_000082.4(ERCC8):c.1012G>A (p.Asp338Asn)	rs141845482	0.00063
NM_000082.4(ERCC8):c.1023A>G (p.Val341=)	rs138173863	0.00032
NM_000082.4(ERCC8):c.173+9A>G	rs143356896	0.00017
NM_000082.4(ERCC8):c.1070A>G (p.Asn357Ser)	rs199590588	0.00013
NM_000082.4(ERCC8):c.911G>A (p.Ser304Asn)	rs201642761	0.00009
NM_000082.4(ERCC8):c.250T>C (p.Cys84Arg)	rs146740678	0.00008
NM_000082.4(ERCC8):c.430G>A (p.Val144Ile)	rs192695896	0.00006
NM_000082.4(ERCC8):c.613G>C (p.Ala205Pro)	rs121434326	0.00006
NM_000082.4(ERCC8):c.149A>G (p.Asp50Gly)	rs373174008	0.00005
NM_000082.4(ERCC8):c.382G>A (p.Asp128Asn)	rs561366032	0.00004
NM_000082.4(ERCC8):c.409G>A (p.Val137Ile)	rs150952570	0.00003
NM_000082.4(ERCC8):c.472T>C (p.Leu158=)	rs561001438	0.00003
NM_000082.4(ERCC8):c.*763A>C	rs886060717	0.00002
NM_000082.4(ERCC8):c.419T>G (p.Phe140Cys)	rs373783755	0.00002
NM_000082.4(ERCC8):c.*116T>C	rs1747937844	0.00001
NM_000082.4(ERCC8):c.*602C>G	rs1000325333	0.00001
NM_000082.4(ERCC8):c.*724C>G	rs886060718	0.00001
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.311C>G (p.Thr104Ser)	rs886060722	0.00001
NM_000082.4(ERCC8):c.399+3A>G	rs768423381	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.551-10G>T	rs758296965	0.00001
NM_000082.4(ERCC8):c.590G>A (p.Arg197His)	rs763453717	0.00001
NM_000082.4(ERCC8):c.872G>A (p.Ser291Asn)	rs933739444	0.00001
NM_000082.4(ERCC8):c.*113A>G	rs567684336
NM_000082.4(ERCC8):c.*377C>G	rs1747930621
NM_000082.4(ERCC8):c.*462T>A	rs886060719
NM_000082.4(ERCC8):c.*644G>A	rs181536191
NM_000082.4(ERCC8):c.*725T>G	rs549186090
NM_000082.4(ERCC8):c.*7T>A	rs377745901
NM_000082.4(ERCC8):c.-25G>C	rs745927528
NM_000082.4(ERCC8):c.-33C>T	rs769026318
NM_000082.4(ERCC8):c.1006del (p.Thr336fs)	rs1554072703
NM_000082.4(ERCC8):c.1125del (p.Thr376fs)	rs1554071508
NM_000082.4(ERCC8):c.1159G>C (p.Asp387His)	rs368676801
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.185G>A (p.Gly62Asp)	rs1749618539
NM_000082.4(ERCC8):c.275+1G>T	rs2112522829
NM_000082.4(ERCC8):c.302G>C (p.Ser101Thr)	rs367874889
NM_000082.4(ERCC8):c.439CAT[1] (p.His148del)	rs1249878855
NM_000082.4(ERCC8):c.485G>A (p.Gly162Asp)	rs1748970086
NM_000082.4(ERCC8):c.562_564del (p.Glu188del)	rs1404307838
NM_000082.4(ERCC8):c.812T>C (p.Leu271Pro)	rs886060721
NM_000082.4(ERCC8):c.945C>T (p.Thr315=)	rs1173045461

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