ClinVar Miner

List of variants reported as pathogenic for Cockayne syndrome

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 86
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HGVS dbSNP
ERCC5, 1-BP DEL, 2170A
ERCC5, 1-BP DEL, 2972T
ERCC6, 2-BP DEL, 3794AA
ERCC6, 4-BP INS, 1053TGTC
ERCC8, 279-BP DEL, 81-BP DEL
NC_000005.9:g.60164820_60244992del
NC_000016.9:g.(?_14014013)_(14042214_?)del
NC_000016.9:g.(?_14021879)_(14022098_?)del
NM_000082.3(ERCC8):c.1042-1G>A rs897535441
NM_000082.3(ERCC8):c.1042-2A>G rs372237310
NM_000082.3(ERCC8):c.173+1119G>C rs1043679457
NM_000082.3(ERCC8):c.37G>T (p.Glu13Ter) rs121434324
NM_000082.3(ERCC8):c.394_398del (p.Leu132fs) rs774542633
NM_000082.3(ERCC8):c.479C>T (p.Ala160Val) rs121434325
NM_000082.3(ERCC8):c.551-1G>A rs1554073316
NM_000082.3(ERCC8):c.613G>C (p.Ala205Pro) rs121434326
NM_000082.3(ERCC8):c.618-1G>A rs201464610
NM_000082.3(ERCC8):c.769G>A (p.Gly257Arg) rs770499406
NM_000082.3(ERCC8):c.78-2A>T rs748379243
NM_000082.3(ERCC8):c.966C>A (p.Tyr322Ter) rs121434323
NM_000123.3(ERCC5):c.1115_1118del (p.Arg372fs) rs786200919
NM_000123.3(ERCC5):c.1494del (p.Asp499fs) rs786200920
NM_000123.3(ERCC5):c.215C>A (p.Pro72His) rs121434574
NM_000123.3(ERCC5):c.2353C>T (p.Gln785Ter) rs1244074570
NM_000123.3(ERCC5):c.2375C>T (p.Ala792Val) rs121434571
NM_000123.3(ERCC5):c.2573T>C (p.Leu858Pro) rs121434575
NM_000123.3(ERCC5):c.2620G>A (p.Ala874Thr) rs121434576
NM_000123.3(ERCC5):c.2751del (p.Lys917fs) rs752661599
NM_000123.3(ERCC5):c.2766dup (p.Leu923fs) rs760232640
NM_000123.3(ERCC5):c.2878G>T (p.Glu960Ter) rs121434570
NM_000123.3(ERCC5):c.2904G>C (p.Trp968Cys) rs267607280
NM_000123.3(ERCC5):c.406C>T (p.Gln136Ter) rs121434577
NM_000123.3(ERCC5):c.526C>T (p.Gln176Ter) rs121434573
NM_000123.3(ERCC5):c.787C>T (p.Arg263Ter) rs121434572
NM_000123.4(ERCC5):c.838_839AG[3] (p.Val281fs)
NM_000124.3(ERCC6):c.1684_1705del
NM_000124.4(ERCC6):c.1004del (p.Leu335fs) rs1554793305
NM_000124.4(ERCC6):c.1034_1035insT (p.Lys345fs)
NM_000124.4(ERCC6):c.1280dup (p.Ser429fs) rs786205166
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter) rs121917902
NM_000124.4(ERCC6):c.1518del (p.Lys506fs) rs786205168
NM_000124.4(ERCC6):c.1526+1G>T rs371739894
NM_000124.4(ERCC6):c.1550G>A (p.Trp517Ter) rs121917900
NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter) rs376526037
NM_000124.4(ERCC6):c.1850dup (p.Cys617fs) rs786205167
NM_000124.4(ERCC6):c.1999del (p.Thr667fs) rs786205169
NM_000124.4(ERCC6):c.2008C>T (p.Arg670Trp) rs202080674
NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter) rs121917904
NM_000124.4(ERCC6):c.2058G>A (p.Trp686Ter) rs751292948
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901
NM_000124.4(ERCC6):c.2254A>G (p.Met752Val)
NM_000124.4(ERCC6):c.229C>T (p.Arg77Ter) rs121917903
NM_000124.4(ERCC6):c.2551T>A (p.Trp851Arg) rs368728467
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg) rs368728467
NM_000124.4(ERCC6):c.2560C>T (p.Gln854Ter) rs1554787509
NM_000124.4(ERCC6):c.2569C>T (p.Arg857Ter) rs751448793
NM_000124.4(ERCC6):c.2599-26A>G rs4253196
NM_000124.4(ERCC6):c.2830-2A>G rs373227647
NM_000124.4(ERCC6):c.2923C>T (p.Arg975Ter) rs772801089
NM_000124.4(ERCC6):c.2960T>C (p.Leu987Pro) rs121917905
NM_000124.4(ERCC6):c.3412dup (p.Thr1138fs) rs786205170
NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs) rs786205171
NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs) rs786205172
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter) rs185142838
NM_000124.4(ERCC6):c.3904C>T (p.Gln1302Ter) rs786205174
NM_000124.4(ERCC6):c.3942G>A (p.Trp1314Ter) rs1564725764
NM_000124.4(ERCC6):c.4007del (p.Asn1336fs) rs786205175
NM_000124.4(ERCC6):c.543+4del rs527236039
NM_000124.4(ERCC6):c.850_851insT (p.Glu284fs) rs797045562
NM_000124.4(ERCC6):c.972dup (p.Glu325fs) rs387906262
NM_000400.3(ERCC2):c.1846C>T (p.Arg616Trp) rs121913024
NM_000400.3(ERCC2):c.1847G>C (p.Arg616Pro) rs376556895
NM_000400.3(ERCC2):c.2041G>A (p.Asp681Asn) rs121913023
NM_000400.3(ERCC2):c.2047C>T (p.Arg683Trp) rs41556519
NM_000400.3(ERCC2):c.2164C>T (p.Arg722Trp) rs121913026
NM_001007233.2(ERCC8):c.-252del rs786205176
NM_001007233.2(ERCC8):c.307+1G>C
NM_001204425.1(BIVM-ERCC5):c.1451-5769C>A rs267607281
NM_001290285.1(ERCC8):c.-61_-58dup
NM_001290285.1(ERCC8):c.-65_-64del rs1404477615
NM_001290285.1(ERCC8):c.-83_-81delinsTG rs1131691783
NM_001983.4(ERCC1):c.472C>T (p.Gln158Ter) rs121913027
NM_001983.4(ERCC1):c.676A>T (p.Lys226Ter) rs886039224
NM_001983.4(ERCC1):c.693C>G (p.Phe231Leu) rs121913028
NM_005236.2(ERCC4):c.1731del (p.Arg576_Tyr577insTer) rs1555468482

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