ClinVar Miner

List of variants studied for COFS syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 260
Download table as spreadsheet
HGVS dbSNP
ERCC5, 1-BP DEL, 2170A
ERCC5, 1-BP DEL, 2972T
ERCC6, 2-BP DEL, 3794AA
ERCC6, 2254A-G
NM_000123.3(ERCC5):c.1110T>A (p.Arg370=) rs150791877
NM_000123.3(ERCC5):c.1115_1118del (p.Arg372fs) rs786200919
NM_000123.3(ERCC5):c.1129del (p.Ala377fs) rs1341902350
NM_000123.3(ERCC5):c.138T>C (p.His46=) rs1047768
NM_000123.3(ERCC5):c.1440C>T (p.His480=) rs4150316
NM_000123.3(ERCC5):c.1494del (p.Asp499fs) rs786200920
NM_000123.3(ERCC5):c.1586G>C (p.Cys529Ser) rs2227869
NM_000123.3(ERCC5):c.1789G>C (p.Val597Leu) rs4150319
NM_000123.3(ERCC5):c.215C>A (p.Pro72His) rs121434574
NM_000123.3(ERCC5):c.2281G>A (p.Ala761Thr) rs142438319
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.2778C>G (p.Gly926=) rs9518857
NM_000123.3(ERCC5):c.2818G>A (p.Val940Met) rs146344855
NM_000123.3(ERCC5):c.2878G>T (p.Glu960Ter) rs121434570
NM_000123.3(ERCC5):c.2879+14C>T rs4150360
NM_000123.3(ERCC5):c.2904G>C (p.Trp968Cys) rs267607280
NM_000123.3(ERCC5):c.3177C>T (p.Gly1059=) rs148856875
NM_000123.3(ERCC5):c.3238C>T (p.Arg1080Ter) rs9514067
NM_000123.3(ERCC5):c.3310G>C (p.Asp1104His) rs17655
NM_000123.3(ERCC5):c.406C>T (p.Gln136Ter) rs121434577
NM_000123.3(ERCC5):c.429C>G (p.Leu143=) rs4140390
NM_000123.3(ERCC5):c.526C>T (p.Gln176Ter) rs121434573
NM_000123.3(ERCC5):c.760A>G (p.Met254Val) rs1047769
NM_000123.3(ERCC5):c.767A>G (p.Gln256Arg) rs4150313
NM_000123.3(ERCC5):c.787C>T (p.Arg263Ter) rs121434572
NM_000123.3(ERCC5):c.83C>A (p.Ala28Asp) rs267607281
NM_000123.3(ERCC5):c.945C>T (p.His315=) rs34061299
NM_000123.3(ERCC5):c.960C>T (p.Asp320=) rs4150314
NM_000124.3(ERCC6):c.2073_2074ins15 (p.?) rs1554788383
NM_000124.3(ERCC6):c.3607_3608ins26 (p.?) rs786205172
NM_000124.4(ERCC6):c.*1112G>A rs186262133
NM_000124.4(ERCC6):c.*118A>C rs4253233
NM_000124.4(ERCC6):c.*1275C>G rs182177140
NM_000124.4(ERCC6):c.*1279T>A rs189942338
NM_000124.4(ERCC6):c.*1314G>A rs542053472
NM_000124.4(ERCC6):c.*1327G>A rs117289374
NM_000124.4(ERCC6):c.*1383T>G rs886047023
NM_000124.4(ERCC6):c.*1780T>C rs188228522
NM_000124.4(ERCC6):c.*1830T>C rs11101137
NM_000124.4(ERCC6):c.*1860A>G rs886047022
NM_000124.4(ERCC6):c.*1872C>T rs115281814
NM_000124.4(ERCC6):c.*1933A>G rs748783305
NM_000124.4(ERCC6):c.*1964_*1966del rs147228327
NM_000124.4(ERCC6):c.*1981dup rs557832376
NM_000124.4(ERCC6):c.*2137A>G rs114723899
NM_000124.4(ERCC6):c.*2155T>C rs114183603
NM_000124.4(ERCC6):c.*2237C>T rs192242583
NM_000124.4(ERCC6):c.*232dup rs74561842
NM_000124.4(ERCC6):c.*2337A>C rs557944846
NM_000124.4(ERCC6):c.*341A>G rs886047030
NM_000124.4(ERCC6):c.*379C>G rs4253234
NM_000124.4(ERCC6):c.*388C>A rs886047029
NM_000124.4(ERCC6):c.*38A>G rs756639495
NM_000124.4(ERCC6):c.*482C>A rs886047028
NM_000124.4(ERCC6):c.*53T>C rs4253231
NM_000124.4(ERCC6):c.*643G>A rs886047027
NM_000124.4(ERCC6):c.*645G>C rs886047026
NM_000124.4(ERCC6):c.*681G>A rs547014227
NM_000124.4(ERCC6):c.*751G>A rs886047025
NM_000124.4(ERCC6):c.*755A>G rs886047024
NM_000124.4(ERCC6):c.*900C>T rs189979670
NM_000124.4(ERCC6):c.*933G>A rs3750751
NM_000124.4(ERCC6):c.*977A>G rs765959190
NM_000124.4(ERCC6):c.-100A>G rs886047041
NM_000124.4(ERCC6):c.-107A>G rs886047042
NM_000124.4(ERCC6):c.-14-2A>G rs760663515
NM_000124.4(ERCC6):c.-15+11G>A rs766986601
NM_000124.4(ERCC6):c.-22G>A rs4253006
NM_000124.4(ERCC6):c.-52G>A rs550772412
NM_000124.4(ERCC6):c.-78G>T rs4253005
NM_000124.4(ERCC6):c.-83G>A rs886047040
NM_000124.4(ERCC6):c.-87C>A rs4253004
NM_000124.4(ERCC6):c.1004del (p.Leu335fs) rs1554793305
NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter) rs1198241866
NM_000124.4(ERCC6):c.1062T>A (p.Pro354=) rs764159237
NM_000124.4(ERCC6):c.1062T>C (p.Pro354=) rs764159237
NM_000124.4(ERCC6):c.1134_1136GGA[6] (p.Glu382_Glu384dup) rs1554793268
NM_000124.4(ERCC6):c.1135G>T (p.Glu379Ter) rs1554793270
NM_000124.4(ERCC6):c.1137_1145GGAGGAAGA[1] (p.Glu382_Glu384del) rs1284316063
NM_000124.4(ERCC6):c.1146G>A (p.Glu382=) rs4253045
NM_000124.4(ERCC6):c.1158C>A (p.Asp386Glu) rs141391984
NM_000124.4(ERCC6):c.1158C>G (p.Asp386Glu) rs141391984
NM_000124.4(ERCC6):c.1158C>T (p.Asp386=) rs141391984
NM_000124.4(ERCC6):c.1159G>A (p.Glu387Lys) rs148295935
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp) rs2228528
NM_000124.4(ERCC6):c.1211_1212insTCA (p.Lys405_Pro406insGln) rs772545860
NM_000124.4(ERCC6):c.1229G>A (p.Gly410Asp) rs138865542
NM_000124.4(ERCC6):c.124_126GAG[1] (p.Glu43del) rs751610688
NM_000124.4(ERCC6):c.1274A>C (p.Asp425Ala) rs4253046
NM_000124.4(ERCC6):c.1280T>C (p.Phe427Ser) rs886047038
NM_000124.4(ERCC6):c.1281C>T (p.Phe427=) rs267602508
NM_000124.4(ERCC6):c.1319_1321del (p.Gly440del) rs779180885
NM_000124.4(ERCC6):c.1322_1324del (p.Glu441del) rs769020754
NM_000124.4(ERCC6):c.1337G>A (p.Gly446Asp) rs4253047
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter) rs121917902
NM_000124.4(ERCC6):c.135C>G (p.Leu45=) rs2228524
NM_000124.4(ERCC6):c.1397+1G>C rs1554793174
NM_000124.4(ERCC6):c.1398-2A>G rs1317145066
NM_000124.4(ERCC6):c.1435C>T (p.Arg479Cys) rs61749175
NM_000124.4(ERCC6):c.1436G>A (p.Arg479His) rs139161933
NM_000124.4(ERCC6):c.1482C>T (p.Asp494=) rs150762517
NM_000124.4(ERCC6):c.150G>A (p.Val50=) rs80133923
NM_000124.4(ERCC6):c.1526+1G>T rs371739894
NM_000124.4(ERCC6):c.1527-2A>G rs768608345
NM_000124.4(ERCC6):c.1595A>G (p.Asp532Gly) rs752712823
NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn) rs116373975
NM_000124.4(ERCC6):c.1681T>G (p.Tyr561Asp) rs1564430115
NM_000124.4(ERCC6):c.1760C>T (p.Thr587Met) rs767709344
NM_000124.4(ERCC6):c.1761G>T (p.Thr587=) rs144608959
NM_000124.4(ERCC6):c.1821+1G>A rs1228919836
NM_000124.4(ERCC6):c.1821+7C>T rs4253132
NM_000124.4(ERCC6):c.1821delinsAA (p.Glu608fs) rs1554789393
NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter) rs376526037
NM_000124.4(ERCC6):c.1835G>A (p.Arg612Gln) rs201894064
NM_000124.4(ERCC6):c.184G>A (p.Ala62Thr) rs186839348
NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter) rs767247987
NM_000124.4(ERCC6):c.1992+7C>T rs373710355
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) rs61760163
NM_000124.4(ERCC6):c.2022T>A (p.Ser674=) rs544471829
NM_000124.4(ERCC6):c.2038A>G (p.Asn680Asp) rs1554788393
NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter) rs121917904
NM_000124.4(ERCC6):c.2048G>A (p.Arg683Gln) rs148845653
NM_000124.4(ERCC6):c.2060C>T (p.Ser687Leu) rs1026438103
NM_000124.4(ERCC6):c.207dup (p.Pro70fs) rs1554794641
NM_000124.4(ERCC6):c.2096C>T (p.Thr699Met) rs55698015
NM_000124.4(ERCC6):c.2096dup (p.Leu700fs) rs774791374
NM_000124.4(ERCC6):c.2125G>A (p.Val709Ile) rs369437807
NM_000124.4(ERCC6):c.214del (p.Leu72fs) rs1554794640
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354
NM_000124.4(ERCC6):c.2169+1G>A rs1441655600
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901
NM_000124.4(ERCC6):c.2286+1G>A rs1362935450
NM_000124.4(ERCC6):c.2287-2A>G rs754978734
NM_000124.4(ERCC6):c.2287-3T>C rs780652533
NM_000124.4(ERCC6):c.2287-4G>A rs375617750
NM_000124.4(ERCC6):c.2287-5C>T rs772880581
NM_000124.4(ERCC6):c.2337C>T (p.Phe779=) rs114490473
NM_000124.4(ERCC6):c.2365C>G (p.Leu789Val) rs139913322
NM_000124.4(ERCC6):c.2383-1G>A rs1554787554
NM_000124.4(ERCC6):c.2390C>G (p.Ser797Cys) rs146043988
NM_000124.4(ERCC6):c.2391C>T (p.Ser797=) rs142641602
NM_000124.4(ERCC6):c.2397T>C (p.Leu799=) rs200079929
NM_000124.4(ERCC6):c.2403C>T (p.Ala801=) rs114896216
NM_000124.4(ERCC6):c.2481_2483AGA[2] (p.Glu829del) rs886047036
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.257_258GC[1] (p.Ala87fs) rs1554794620
NM_000124.4(ERCC6):c.2598+7G>A rs769421755
NM_000124.4(ERCC6):c.2599-26A>G rs4253196
NM_000124.4(ERCC6):c.2645A>G (p.Tyr882Cys) rs116431130
NM_000124.4(ERCC6):c.2696C>T (p.Thr899Met) rs374470147
NM_000124.4(ERCC6):c.2697G>A (p.Thr899=) rs761802751
NM_000124.4(ERCC6):c.2741C>T (p.Thr914Met) rs142580756
NM_000124.4(ERCC6):c.2751C>T (p.Gly917=) rs2229760
NM_000124.4(ERCC6):c.2825C>T (p.Thr942Met) rs2228525
NM_000124.4(ERCC6):c.2829+11A>T rs777251839
NM_000124.4(ERCC6):c.2829+1G>A rs1554875522
NM_000124.4(ERCC6):c.2830-2A>G rs373227647
NM_000124.4(ERCC6):c.2839C>T (p.Arg947Ter) rs906755254
NM_000124.4(ERCC6):c.2905G>A (p.Glu969Lys) rs886047035
NM_000124.4(ERCC6):c.2924G>A (p.Arg975Gln) rs145720191
NM_000124.4(ERCC6):c.2960T>C (p.Leu987Pro) rs121917905
NM_000124.4(ERCC6):c.2974C>G (p.Gln992Glu) rs772104945
NM_000124.4(ERCC6):c.2989A>G (p.Lys997Glu) rs375181157
NM_000124.4(ERCC6):c.2996A>G (p.Asn999Ser) rs760694729
NM_000124.4(ERCC6):c.3010C>T (p.Leu1004=) rs2274097
NM_000124.4(ERCC6):c.3061A>G (p.Ile1021Val) rs41562713
NM_000124.4(ERCC6):c.3071-1G>A rs1554875287
NM_000124.4(ERCC6):c.3111_3113AAG[1] (p.Arg1039del) rs1342267719
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661
NM_000124.4(ERCC6):c.3177T>C (p.Ser1059=) rs4253207
NM_000124.4(ERCC6):c.3186T>C (p.Ser1062=) rs35365613
NM_000124.4(ERCC6):c.3191A>G (p.Asn1064Ser) rs200093886
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val) rs2228526
NM_000124.4(ERCC6):c.3391A>G (p.Asn1131Asp) rs147079519
NM_000124.4(ERCC6):c.3412dup (p.Thr1138fs) rs786205170
NM_000124.4(ERCC6):c.3435_3437dup (p.Ser1146_Ile1147insArg) rs1435512927
NM_000124.4(ERCC6):c.3453A>G (p.Leu1151=) rs771604820
NM_000124.4(ERCC6):c.3456T>G (p.Gly1152=) rs148366188
NM_000124.4(ERCC6):c.3480C>G (p.Pro1160=) rs886047034
NM_000124.4(ERCC6):c.3481A>C (p.Ser1161Arg) rs142094044
NM_000124.4(ERCC6):c.3482G>C (p.Ser1161Thr) rs148636026
NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs) rs786205171
NM_000124.4(ERCC6):c.3573_3575AGA[2] (p.Glu1194del) rs1248870490
NM_000124.4(ERCC6):c.3589_3590GA[3] (p.Lys1198fs) rs1287286877
NM_000124.4(ERCC6):c.3594A>G (p.Lys1198=) rs374791168
NM_000124.4(ERCC6):c.3614del (p.Lys1205fs) rs1554875155
NM_000124.4(ERCC6):c.3627dup (p.Lys1210Ter) rs1554875154
NM_000124.4(ERCC6):c.3634T>A (p.Cys1212Ser) rs886042655
NM_000124.4(ERCC6):c.3636C>T (p.Cys1212=) rs886047033
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly) rs2228527
NM_000124.4(ERCC6):c.3650T>G (p.Phe1217Cys) rs61760166
NM_000124.4(ERCC6):c.3689G>C (p.Arg1230Pro) rs4253211
NM_000124.4(ERCC6):c.3774A>G (p.Lys1258=) rs35756610
NM_000124.4(ERCC6):c.3778+1G>C rs1554875114
NM_000124.4(ERCC6):c.379G>A (p.Val127Ile) rs116275562
NM_000124.4(ERCC6):c.3804C>T (p.His1268=) rs116032070
NM_000124.4(ERCC6):c.384C>T (p.Asp128=) rs146165518
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter) rs185142838
NM_000124.4(ERCC6):c.3871dup (p.Gln1291fs) rs1386369933
NM_000124.4(ERCC6):c.3914_3925del (p.Leu1305_Ser1309delinsPro) rs1554874085
NM_000124.4(ERCC6):c.3922G>C (p.Val1308Leu) rs2229761
NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs) rs765825423
NM_000124.4(ERCC6):c.3957del (p.Ile1320fs) rs1554874073
NM_000124.4(ERCC6):c.3965G>T (p.Gly1322Val) rs4253219
NM_000124.4(ERCC6):c.3984-2A>G rs1554873973
NM_000124.4(ERCC6):c.400C>T (p.Arg134Trp) rs148095899
NM_000124.4(ERCC6):c.4062+2T>A rs1554873950
NM_000124.4(ERCC6):c.4063-1G>C rs766980240
NM_000124.4(ERCC6):c.4066G>A (p.Gly1356Ser) rs574272317
NM_000124.4(ERCC6):c.4114G>A (p.Gly1372Arg) rs4253227
NM_000124.4(ERCC6):c.411G>A (p.Leu137=) rs4253013
NM_000124.4(ERCC6):c.4186A>G (p.Arg1396Gly) rs745352643
NM_000124.4(ERCC6):c.4211G>A (p.Arg1404His) rs755854972
NM_000124.4(ERCC6):c.422+1G>A rs1198472093
NM_000124.4(ERCC6):c.422+1G>C rs1198472093
NM_000124.4(ERCC6):c.4223A>C (p.Glu1408Ala) rs61760167
NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg) rs2228529
NM_000124.4(ERCC6):c.4322C>T (p.Thr1441Ile) rs4253230
NM_000124.4(ERCC6):c.4382C>G (p.Ser1461Ter) rs1554873743
NM_000124.4(ERCC6):c.4391G>C (p.Cys1464Ser) rs759125039
NM_000124.4(ERCC6):c.4393G>A (p.Val1465Ile) rs201813523
NM_000124.4(ERCC6):c.4399C>T (p.Arg1467Ter) rs762976316
NM_000124.4(ERCC6):c.439del (p.Ser146_Leu147insTer) rs1554794360
NM_000124.4(ERCC6):c.4438_4440del (p.Ser1480del) rs886047032
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter) rs751838040
NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter) rs771781694
NM_000124.4(ERCC6):c.528A>G (p.Arg176=) rs4253027
NM_000124.4(ERCC6):c.544-2A>G rs1554794073
NM_000124.4(ERCC6):c.595C>G (p.Leu199Val) rs886047039
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.670C>T (p.Leu224Phe) rs150935953
NM_000124.4(ERCC6):c.779_780dup (p.Arg261fs) rs1254008304
NM_000124.4(ERCC6):c.858G>C (p.Lys286Asn) rs143260457
NM_000124.4(ERCC6):c.901C>T (p.Pro301Ser) rs766256094
NM_000124.4(ERCC6):c.906_923del (p.Thr303_Val308del) rs765040780
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.1887G>C (p.Gln629His) rs200665173
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.2092C>T (p.Gln698Ter) rs1555775416
NM_000400.3(ERCC2):c.2164C>T (p.Arg722Trp) rs121913026
NM_001983.4(ERCC1):c.184G>T (p.Glu62Ter) rs150584960
NM_001983.4(ERCC1):c.472C>T (p.Gln158Ter) rs121913027
NM_001983.4(ERCC1):c.693C>G (p.Phe231Leu) rs121913028
NM_001983.4(ERCC1):c.796G>A (p.Ala266Thr)
NM_001983.4(ERCC1):c.799T>C (p.Ser267Pro)

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