ClinVar Miner

List of variants reported as benign for Cockayne syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_005236.3(ERCC4):c.974-7G>A rs254942 0.97995
NM_000124.4(ERCC6):c.1992+32A>G rs4253162 0.85763
NM_000124.4(ERCC6):c.1821+7C>T rs4253132 0.84443
NM_174889.4(NDUFAF2):c.-97A>G rs158922 0.66969
NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=) rs158921 0.63042
NM_000124.4(ERCC6):c.135C>G (p.Leu45=) rs2228524 0.62551
NM_000082.4(ERCC8):c.*105T>C rs3117 0.36900
NM_000124.4(ERCC6):c.*379C>G rs4253234 0.31692
NM_000124.4(ERCC6):c.2751C>T (p.Gly917=) rs2229760 0.31596
NM_005236.3(ERCC4):c.2505T>C (p.Ser835=) rs1799801 0.24619
NM_005236.3(ERCC4):c.207+11G>A rs762521 0.22979
NM_000082.4(ERCC8):c.435T>C (p.Tyr145=) rs4647100 0.19656
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly) rs2228527 0.19565
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val) rs2228526 0.19072
NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg) rs2228529 0.18890
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp) rs2228528 0.17598
NM_000124.4(ERCC6):c.2382+33T>C rs3750749 0.10128
NM_000124.4(ERCC6):c.*1830T>C rs11101137 0.09932
NM_000124.4(ERCC6):c.*3823T>C rs73297748 0.09918
NM_000124.4(ERCC6):c.*53T>C rs4253231 0.09905
NM_000124.4(ERCC6):c.411G>A (p.Leu137=) rs4253013 0.09896
NM_000082.4(ERCC8):c.*439G>T rs4647155 0.09291
NM_000124.4(ERCC6):c.*933G>A rs3750751 0.07801
NM_000124.4(ERCC6):c.*1964_*1966del rs147228327 0.06626
NM_005236.3(ERCC4):c.1984T>C (p.Ser662Pro) rs2020955 0.06391
NM_005236.3(ERCC4):c.1244G>A (p.Arg415Gln) rs1800067 0.05364
NM_000082.4(ERCC8):c.*519C>A rs4647157 0.05096
NM_000124.4(ERCC6):c.-78G>T rs4253005 0.04162
NM_000082.4(ERCC8):c.173+1158A>G rs4647068 0.02409
NM_000082.4(ERCC8):c.-23T>G rs4647038 0.02401
NM_000124.4(ERCC6):c.4322C>T (p.Thr1441Ile) rs4253230 0.02217
NM_000082.4(ERCC8):c.*458T>C rs4647156 0.01803
NM_000082.4(ERCC8):c.*36C>T rs4647152 0.01630
NM_000124.4(ERCC6):c.2825C>T (p.Thr942Met) rs2228525 0.01573
NM_000124.4(ERCC6):c.528A>G (p.Arg176=) rs4253027 0.01480
NM_005236.3(ERCC4):c.33C>T (p.Ala11=) rs3136042 0.01420
NM_005236.3(ERCC4):c.1884A>G (p.Glu628=) rs2020958 0.01408
NM_000124.4(ERCC6):c.*2137A>G rs114723899 0.01395
NM_000082.4(ERCC8):c.363T>C (p.Asp121=) rs4647088 0.01289
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly) rs1800124 0.01216
NM_000082.4(ERCC8):c.*237T>C rs4647153 0.01170
NM_000124.4(ERCC6):c.3177T>C (p.Ser1059=) rs4253207 0.01168
NM_005236.3(ERCC4):c.2655G>A (p.Thr885=) rs16963255 0.01026
NM_005236.3(ERCC4):c.252C>T (p.Leu84=) rs3136056 0.00941
NM_000124.4(ERCC6):c.*3395A>C rs142122327 0.00812
NM_005236.3(ERCC4):c.2463A>G (p.Pro821=) rs2020953 0.00706
NM_000124.4(ERCC6):c.1146G>A (p.Glu382=) rs4253045 0.00681
NM_000124.4(ERCC6):c.*1872C>T rs115281814 0.00673
NM_000082.4(ERCC8):c.504A>G (p.Val168=) rs35366433 0.00639
NM_005236.3(ERCC4):c.2617A>G (p.Ile873Val) rs2020957 0.00625
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) rs1799802 0.00471
NM_000124.4(ERCC6):c.3010C>T (p.Leu1004=) rs2274097 0.00466
NM_000124.4(ERCC6):c.*1275C>G rs182177140 0.00456
NM_005236.3(ERCC4):c.1446A>G (p.Glu482=) rs114077770 0.00403
NM_000124.4(ERCC6):c.4114G>A (p.Gly1372Arg) rs4253227 0.00363
NM_005236.3(ERCC4):c.2724C>T (p.Val908=) rs3136225 0.00290
NM_005236.3(ERCC4):c.1812-5T>C rs2020952 0.00215
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr) rs1800069 0.00190
NM_000082.4(ERCC8):c.1080T>C (p.Ala360=) rs4647130 0.00120
NM_005236.3(ERCC4):c.974-6T>C rs201181735 0.00091
NM_000124.4(ERCC6):c.2875G>T (p.Val959Leu) rs190863815 0.00075
NM_005236.3(ERCC4):c.973+11A>T rs185779788 0.00013
NM_005236.3(ERCC4):c.793-13A>T rs201159142 0.00011
NM_000124.4(ERCC6):c.3965G>T (p.Gly1322Val) rs4253219 0.00009
NM_005236.3(ERCC4):c.2545C>G (p.Gln849Glu) rs374186605 0.00008
NM_005236.3(ERCC4):c.389-5C>T rs377224276 0.00006
NC_000016.10:g.13919809A>C rs6498486
NM_000082.4(ERCC8):c.*583T>C rs4647158
NM_000124.4(ERCC6):c.*2946C>T rs146529081
NM_000124.4(ERCC6):c.-87C>A rs4253004
NM_000124.4(ERCC6):c.3689G>C (p.Arg1230Pro) rs4253211
NM_000124.4(ERCC6):c.3774A>G (p.Lys1258=) rs35756610
NM_005236.3(ERCC4):c.1213+11dup
NM_005236.3(ERCC4):c.241G>T (p.Val81Phe) rs55761944
NM_005236.3(ERCC4):c.974-7_974-6inv
NM_174889.4(NDUFAF2):c.-91C>T rs4647036

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