ClinVar Miner

List of variants reported as likely pathogenic for Cockayne syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 170
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HGVS dbSNP gnomAD frequency
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354 0.00009
NM_000124.4(ERCC6):c.2599-26A>G rs4253196 0.00006
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901 0.00005
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_000124.4(ERCC6):c.2839C>T (p.Arg947Ter) rs906755254 0.00004
NM_000082.4(ERCC8):c.399+1G>A rs774047625 0.00003
NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter) rs771781694 0.00003
NM_000124.4(ERCC6):c.2287-2A>G rs754978734 0.00002
NM_000124.4(ERCC6):c.4063-1G>C rs766980240 0.00002
NM_000124.4(ERCC6):c.422+1G>A rs1198472093 0.00002
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter) rs751838040 0.00002
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.1122+1G>A rs1482664387 0.00001
NM_000082.4(ERCC8):c.173+1G>A rs1476095782 0.00001
NM_000082.4(ERCC8):c.600dup (p.Ile201fs) rs1468231556 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_000082.4(ERCC8):c.843+1G>T rs1305258765 0.00001
NM_000124.4(ERCC6):c.1398-2A>G rs1317145066 0.00001
NM_000124.4(ERCC6):c.1526+1G>T rs371739894 0.00001
NM_000124.4(ERCC6):c.1821+1G>A rs1228919836 0.00001
NM_000124.4(ERCC6):c.2096dup (p.Leu700fs) rs774791374 0.00001
NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs) rs786205171 0.00001
NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs) rs765825423 0.00001
NM_000124.4(ERCC6):c.4399C>T (p.Arg1467Ter) rs762976316 0.00001
NM_005236.3(ERCC4):c.1102+1G>T rs1314323456 0.00001
NC_000005.9:g.(60200701_60214091)_(60240906_?)del
NC_000005.9:g.(?_60169658)_(60183348_60186715)del
NC_000010.10:g.(50669603_50678227)_(50684357_50686399)dup
NM_000082.4(ERCC8):c.1042-1G>C rs897535441
NM_000082.4(ERCC8):c.182C>G (p.Ser61Ter) rs1749618632
NM_000082.4(ERCC8):c.274dup (p.Arg92fs)
NM_000082.4(ERCC8):c.276-2A>G rs1554074597
NM_000082.4(ERCC8):c.295_297delinsTG (p.Arg99fs) rs1131691783
NM_000082.4(ERCC8):c.300C>A (p.Tyr100Ter) rs143367518
NM_000082.4(ERCC8):c.397C>T (p.Gln133Ter) rs1749495521
NM_000082.4(ERCC8):c.454_460dup (p.Thr154fs)
NM_000082.4(ERCC8):c.482-2A>G rs1554073420
NM_000082.4(ERCC8):c.523T>C (p.Ser175Pro)
NM_000082.4(ERCC8):c.559C>T (p.Gln187Ter)
NM_000082.4(ERCC8):c.572_574del (p.Ala191del)
NM_000082.4(ERCC8):c.592del (p.Tyr198fs)
NM_000082.4(ERCC8):c.611_616del (p.Thr204_Ala205del) rs2112491212
NM_000082.4(ERCC8):c.642G>A (p.Trp214Ter) rs1748819276
NM_000082.4(ERCC8):c.647_651dup (p.Arg218Ter) rs1554073177
NM_000082.4(ERCC8):c.679del (p.Asp227fs) rs1554073175
NM_000082.4(ERCC8):c.719-2A>G rs1554073117
NM_000082.4(ERCC8):c.719-2A>T rs1554073117
NM_000082.4(ERCC8):c.77+2T>G rs1554076239
NM_000082.4(ERCC8):c.797A>C (p.Asp266Ala) rs281875225
NM_000082.4(ERCC8):c.903T>A (p.Cys301Ter) rs1748531932
NM_000082.4(ERCC8):c.928del (p.Val310fs) rs1554072713
NM_000082.4(ERCC8):c.95T>A (p.Leu32Ter) rs1749828987
NM_000082.4(ERCC8):c.976C>T (p.Gln326Ter) rs1748527879
NM_000124.4(ERCC6):c.-15+3G>T rs1010201937
NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter) rs1198241866
NM_000124.4(ERCC6):c.1040del (p.Gly347fs)
NM_000124.4(ERCC6):c.1135G>T (p.Glu379Ter) rs1554793270
NM_000124.4(ERCC6):c.1154delinsTACACTTTT (p.Asp385fs)
NM_000124.4(ERCC6):c.1174G>T (p.Glu392Ter)
NM_000124.4(ERCC6):c.1212_1213del (p.Lys405fs)
NM_000124.4(ERCC6):c.1213A>T (p.Lys405Ter)
NM_000124.4(ERCC6):c.1214_1215insCTGGCACTTTCTT (p.Lys405fs)
NM_000124.4(ERCC6):c.1274_1275insGCTTCAG (p.Asp425fs)
NM_000124.4(ERCC6):c.1307_1316del (p.Ala436fs)
NM_000124.4(ERCC6):c.1342A>T (p.Lys448Ter)
NM_000124.4(ERCC6):c.1397+1G>C rs1554793174
NM_000124.4(ERCC6):c.1467_1468del (p.Ser489fs)
NM_000124.4(ERCC6):c.1516A>T (p.Lys506Ter) rs1851434105
NM_000124.4(ERCC6):c.1518del (p.Lys506fs) rs786205168
NM_000124.4(ERCC6):c.1527-2A>G rs768608345
NM_000124.4(ERCC6):c.1589T>C (p.Leu530Pro) rs1057518910
NM_000124.4(ERCC6):c.1719T>A (p.Cys573Ter)
NM_000124.4(ERCC6):c.1759_1760del (p.Thr587fs)
NM_000124.4(ERCC6):c.1777A>T (p.Arg593Ter) rs768188064
NM_000124.4(ERCC6):c.1815del (p.His605fs)
NM_000124.4(ERCC6):c.1816A>T (p.Lys606Ter) rs961060711
NM_000124.4(ERCC6):c.1821delinsAA (p.Glu608fs) rs1554789393
NM_000124.4(ERCC6):c.1867_1869delinsT (p.Thr623fs)
NM_000124.4(ERCC6):c.1905del (p.Ser636fs)
NM_000124.4(ERCC6):c.1914T>A (p.Tyr638Ter)
NM_000124.4(ERCC6):c.1919G>A (p.Trp640Ter) rs1851015811
NM_000124.4(ERCC6):c.1926T>A (p.Tyr642Ter)
NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter) rs767247987
NM_000124.4(ERCC6):c.2035C>T (p.Gln679Ter)
NM_000124.4(ERCC6):c.2058G>A (p.Trp686Ter) rs751292948
NM_000124.4(ERCC6):c.207dup (p.Pro70fs) rs1554794641
NM_000124.4(ERCC6):c.2106del (p.Phe703fs)
NM_000124.4(ERCC6):c.2134_2135del (p.Thr712fs)
NM_000124.4(ERCC6):c.214del (p.Leu72fs) rs1554794640
NM_000124.4(ERCC6):c.2166del (p.Gln723fs)
NM_000124.4(ERCC6):c.2169+1G>A rs1441655600
NM_000124.4(ERCC6):c.2201T>G (p.Leu734Ter) rs1850916835
NM_000124.4(ERCC6):c.2286+1G>A rs1362935450
NM_000124.4(ERCC6):c.2307_2308insATTGT (p.Asp770fs)
NM_000124.4(ERCC6):c.2336del (p.Phe779fs) rs2132544294
NM_000124.4(ERCC6):c.2380C>T (p.Gln794Ter) rs1850874595
NM_000124.4(ERCC6):c.2383-1G>A rs1554787554
NM_000124.4(ERCC6):c.2504G>A (p.Trp835Ter) rs1850832795
NM_000124.4(ERCC6):c.2543T>A (p.Leu848Ter) rs1850832063
NM_000124.4(ERCC6):c.2547_2550del (p.Lys849fs)
NM_000124.4(ERCC6):c.2548del (p.Ile850fs)
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg) rs368728467
NM_000124.4(ERCC6):c.2566C>T (p.Gln856Ter) rs1850831525
NM_000124.4(ERCC6):c.259_260del (p.Ala87fs) rs1554794620
NM_000124.4(ERCC6):c.2636del (p.Lys879fs)
NM_000124.4(ERCC6):c.2796T>A (p.Tyr932Ter)
NM_000124.4(ERCC6):c.2800C>A (p.Pro934Thr) rs1554875536
NM_000124.4(ERCC6):c.2807G>A (p.Trp936Ter) rs1283213117
NM_000124.4(ERCC6):c.2829+1G>A rs1554875522
NM_000124.4(ERCC6):c.2846G>A (p.Trp949Ter) rs1850797541
NM_000124.4(ERCC6):c.2881_2882insTCTTCGT (p.Arg961fs)
NM_000124.4(ERCC6):c.2952_2953del (p.Asn984fs) rs1590406503
NM_000124.4(ERCC6):c.3002_3003delinsA (p.Leu1001fs)
NM_000124.4(ERCC6):c.3007G>T (p.Glu1003Ter) rs1850770605
NM_000124.4(ERCC6):c.3070G>T (p.Gly1024Ter) rs1850769140
NM_000124.4(ERCC6):c.3071-1G>A rs1554875287
NM_000124.4(ERCC6):c.3097A>T (p.Lys1033Ter) rs1850766086
NM_000124.4(ERCC6):c.3113_3114del (p.Arg1038fs) rs1850765501
NM_000124.4(ERCC6):c.3234_3235del (p.Glu1079fs)
NM_000124.4(ERCC6):c.3259C>T (p.Arg1087Ter) rs144445150
NM_000124.4(ERCC6):c.3322G>T (p.Gly1108Ter)
NM_000124.4(ERCC6):c.3355G>T (p.Glu1119Ter) rs1850759141
NM_000124.4(ERCC6):c.3412dup (p.Thr1138fs) rs786205170
NM_000124.4(ERCC6):c.3448A>T (p.Lys1150Ter) rs1850757159
NM_000124.4(ERCC6):c.3465C>A (p.Tyr1155Ter) rs1286402535
NM_000124.4(ERCC6):c.3489_3490del (p.Gln1164fs)
NM_000124.4(ERCC6):c.3505dup (p.Trp1169fs)
NM_000124.4(ERCC6):c.3544A>T (p.Lys1182Ter) rs1850754584
NM_000124.4(ERCC6):c.3571_3572insATCGT (p.Ala1191fs)
NM_000124.4(ERCC6):c.3574G>T (p.Glu1192Ter) rs1850753467
NM_000124.4(ERCC6):c.3591_3592dup (p.Lys1198fs) rs1287286877
NM_000124.4(ERCC6):c.3598_3599del (p.Leu1200fs)
NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs) rs786205172
NM_000124.4(ERCC6):c.3612_3613insT (p.Lys1205Ter) rs786205173
NM_000124.4(ERCC6):c.3614del (p.Lys1205fs) rs1554875155
NM_000124.4(ERCC6):c.3623_3624insTG (p.Ser1209fs)
NM_000124.4(ERCC6):c.3627dup (p.Lys1210Ter) rs1554875154
NM_000124.4(ERCC6):c.3637A>T (p.Arg1213Ter) rs2228527
NM_000124.4(ERCC6):c.3655G>T (p.Gly1219Ter) rs1850750513
NM_000124.4(ERCC6):c.3677_3678del (p.Val1226fs)
NM_000124.4(ERCC6):c.3682A>T (p.Lys1228Ter)
NM_000124.4(ERCC6):c.3757G>T (p.Glu1253Ter) rs1850747928
NM_000124.4(ERCC6):c.3768_3769delinsT (p.Lys1258fs)
NM_000124.4(ERCC6):c.3778+1G>C rs1554875114
NM_000124.4(ERCC6):c.3871dup (p.Gln1291fs) rs1386369933
NM_000124.4(ERCC6):c.3957del (p.Ile1320fs) rs1554874073
NM_000124.4(ERCC6):c.3984-2A>G rs1554873973
NM_000124.4(ERCC6):c.39_49delinsA (p.Glu14fs) rs2132639937
NM_000124.4(ERCC6):c.4062+2T>A rs1554873950
NM_000124.4(ERCC6):c.4146del (p.Leu1384fs)
NM_000124.4(ERCC6):c.4177del (p.Lys1392_Met1393insTer) rs1850531575
NM_000124.4(ERCC6):c.41_50del (p.Glu14fs) rs1272960343
NM_000124.4(ERCC6):c.422+1G>C rs1198472093
NM_000124.4(ERCC6):c.439del (p.Ser146_Leu147insTer) rs1554794360
NM_000124.4(ERCC6):c.454A>T (p.Lys152Ter)
NM_000124.4(ERCC6):c.463G>T (p.Glu155Ter)
NM_000124.4(ERCC6):c.542dup (p.Glu182fs)
NM_000124.4(ERCC6):c.543+1G>T rs1837448977
NM_000124.4(ERCC6):c.544-2A>G rs1554794073
NM_000124.4(ERCC6):c.574C>T (p.Gln192Ter) rs1837393519
NM_000124.4(ERCC6):c.619G>T (p.Glu207Ter)
NM_000124.4(ERCC6):c.61C>T (p.Gln21Ter) rs577021605
NM_000124.4(ERCC6):c.643G>T (p.Glu215Ter) rs875989810
NM_000124.4(ERCC6):c.775A>T (p.Lys259Ter)
NM_000124.4(ERCC6):c.779_780dup (p.Arg261fs) rs1254008304
NM_005236.3(ERCC4):c.2065C>A (p.Arg689Ser) rs149364215
NM_005236.3(ERCC4):c.580_584+1del rs776329282

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