ClinVar Miner

List of variants reported as pathogenic for Ehlers-Danlos syndrome, classic type by Invitae

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 415
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000089.4(COL1A2):c.830G>C (p.Gly277Ala) rs752431578 0.00003
NM_000089.4(COL1A2):c.2755G>A (p.Gly919Ser) rs749621872 0.00002
NM_000089.4(COL1A2):c.2098G>T (p.Gly700Cys) rs72658160 0.00001
NM_000089.4(COL1A2):c.2701G>A (p.Gly901Ser) rs72659306 0.00001
NM_000089.4(COL1A2):c.2958del (p.Val987fs) rs1064793527 0.00001
NM_000089.4(COL1A2):c.298G>A (p.Gly100Ser) rs1410254723 0.00001
NM_000089.4(COL1A2):c.389G>A (p.Gly130Asp) rs72656360 0.00001
NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser) rs72656387 0.00001
NM_000089.4(COL1A2):c.946G>A (p.Gly316Ser) rs72656392 0.00001
NC_000002.11:g.(?_189839216)_(190044330_?)del
NC_000002.12:g.(?_188974480)_(189580648_?)del
NC_000007.13:g.(?_94037139)_(94037712_?)dup
NC_000007.13:g.(?_94037139)_(94038155_?)dup
NC_000007.13:g.(?_94037531)_(94038117_?)del
NC_000007.14:g.(?_94395012)_(94395818_?)del
NC_000007.14:g.(?_94395012)_(94399104_?)del
NC_000007.14:g.94425611del
NC_000009.11:g.(?_137534024)_(137620663_?)del
NC_000009.11:g.(?_137534034)_(137582945_?)del
NC_000009.11:g.(?_137582748)_(137677904_?)del
NC_000009.11:g.(?_137591735)_(137593199_?)del
NC_000009.11:g.(?_137593011)_(137727056_?)del
NC_000009.11:g.(?_137619102)_(137698152_?)dup
NC_000009.11:g.(?_137645560)_137650136del
NC_000009.11:g.(?_137664616)_(137734149_?)del
NC_000009.11:g.(?_137709604)_(137717770_?)del
NC_000009.11:g.(?_137733983)_(137734149_?)del
NC_000009.12:g.(?_134642178)_(134701343_?)del
NC_000009.12:g.(?_134642178)_(134768473_?)del
NC_000009.12:g.(?_134690892)_(134763757_?)del
NC_000009.12:g.(?_134690902)_(134727407_?)del
NC_000009.12:g.(?_134699889)_(134700142_?)del
NC_000009.12:g.(?_134701171)_(134835204_?)del
NC_000009.12:g.(?_134752569)_(134752665_?)del
NC_000009.12:g.(?_134782657)_(134842313_?)del
NC_000009.12:g.134765683del
NM_000089.4(COL1A2):c.1009G>A (p.Gly337Ser) rs67865220
NM_000089.4(COL1A2):c.1009G>T (p.Gly337Cys)
NM_000089.4(COL1A2):c.1010G>C (p.Gly337Ala) rs2115894285
NM_000089.4(COL1A2):c.1010G>T (p.Gly337Val)
NM_000089.4(COL1A2):c.1036-1G>T
NM_000089.4(COL1A2):c.1045G>A (p.Gly349Ser) rs66773001
NM_000089.4(COL1A2):c.1045G>C (p.Gly349Arg) rs66773001
NM_000089.4(COL1A2):c.1045G>T (p.Gly349Cys) rs66773001
NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser) rs66619856
NM_000089.4(COL1A2):c.1081G>T (p.Gly361Cys) rs1791894410
NM_000089.4(COL1A2):c.1099G>A (p.Gly367Arg)
NM_000089.4(COL1A2):c.1109G>T (p.Gly370Val) rs72658104
NM_000089.4(COL1A2):c.1127G>T (p.Gly376Val) rs67543427
NM_000089.4(COL1A2):c.1144G>A (p.Gly382Ser) rs2115896730
NM_000089.4(COL1A2):c.1153G>C (p.Gly385Arg)
NM_000089.4(COL1A2):c.1154G>A (p.Gly385Glu)
NM_000089.4(COL1A2):c.1171G>A (p.Gly391Ser) rs67707918
NM_000089.4(COL1A2):c.1171G>T (p.Gly391Cys) rs67707918
NM_000089.4(COL1A2):c.1197+5G>A rs68132885
NM_000089.4(COL1A2):c.1197+5G>C
NM_000089.4(COL1A2):c.1216G>A (p.Gly406Ser) rs72658108
NM_000089.4(COL1A2):c.1270G>A (p.Gly424Ser) rs72658112
NM_000089.4(COL1A2):c.1279G>A (p.Gly427Ser)
NM_000089.4(COL1A2):c.1289G>A (p.Gly430Glu) rs1791913210
NM_000089.4(COL1A2):c.1324G>A (p.Gly442Arg) rs1554396361
NM_000089.4(COL1A2):c.1342G>C (p.Gly448Arg) rs1584320605
NM_000089.4(COL1A2):c.1378G>A (p.Gly460Ser) rs72658118
NM_000089.4(COL1A2):c.1388G>C (p.Gly463Ala) rs2115902837
NM_000089.4(COL1A2):c.1430del (p.Pro477fs)
NM_000089.4(COL1A2):c.1441G>C (p.Gly481Arg) rs72658120
NM_000089.4(COL1A2):c.1459G>A (p.Gly487Arg) rs1791952936
NM_000089.4(COL1A2):c.1478G>A (p.Gly493Glu) rs72658121
NM_000089.4(COL1A2):c.1478G>T (p.Gly493Val)
NM_000089.4(COL1A2):c.1513G>A (p.Gly505Ser) rs1554396679
NM_000089.4(COL1A2):c.1515del (p.Asn507fs)
NM_000089.4(COL1A2):c.1532G>A (p.Gly511Asp) rs66999265
NM_000089.4(COL1A2):c.1541G>C (p.Gly514Ala) rs1791962073
NM_000089.4(COL1A2):c.1549G>A (p.Gly517Ser)
NM_000089.4(COL1A2):c.1576G>A (p.Gly526Arg) rs72658129
NM_000089.4(COL1A2):c.1630G>A (p.Gly544Ser)
NM_000089.4(COL1A2):c.1648G>A (p.Gly550Ser)
NM_000089.4(COL1A2):c.1666G>T (p.Gly556Cys) rs1554396832
NM_000089.4(COL1A2):c.1675G>A (p.Gly559Ser)
NM_000089.4(COL1A2):c.1693G>A (p.Gly565Ser)
NM_000089.4(COL1A2):c.1694G>C (p.Gly565Ala) rs794727470
NM_000089.4(COL1A2):c.1710dup (p.Gly571fs)
NM_000089.4(COL1A2):c.1748G>C (p.Gly583Ala) rs1554396983
NM_000089.4(COL1A2):c.1757G>C (p.Gly586Ala) rs121912907
NM_000089.4(COL1A2):c.1774G>A (p.Gly592Ser) rs72658141
NM_000089.4(COL1A2):c.1801G>A (p.Gly601Ser) rs72658143
NM_000089.4(COL1A2):c.1809del (p.Gly604fs) rs1321582299
NM_000089.4(COL1A2):c.1846G>A (p.Gly616Arg)
NM_000089.4(COL1A2):c.1846G>C (p.Gly616Arg)
NM_000089.4(COL1A2):c.1863G>A (p.Lys621=)
NM_000089.4(COL1A2):c.1864G>T (p.Gly622Cys) rs2115921275
NM_000089.4(COL1A2):c.1883G>A (p.Gly628Asp)
NM_000089.4(COL1A2):c.1892G>A (p.Gly631Asp) rs1584324507
NM_000089.4(COL1A2):c.1892G>T (p.Gly631Val) rs1584324507
NM_000089.4(COL1A2):c.1963G>A (p.Gly655Arg) rs2115921786
NM_000089.4(COL1A2):c.1964G>A (p.Gly655Glu) rs1554397275
NM_000089.4(COL1A2):c.1981G>C (p.Gly661Arg)
NM_000089.4(COL1A2):c.1981G>T (p.Gly661Cys) rs72658152
NM_000089.4(COL1A2):c.1990G>C (p.Gly664Arg)
NM_000089.4(COL1A2):c.1991G>A (p.Gly664Asp) rs72658154
NM_000089.4(COL1A2):c.2018G>A (p.Gly673Asp) rs2115924495
NM_000089.4(COL1A2):c.2026-1_2042dup rs1584325529
NM_000089.4(COL1A2):c.2027G>A (p.Gly676Asp) rs66883877
NM_000089.4(COL1A2):c.2038_2055dup (p.Gly685_Pro686insAlaValGlyAlaProGly)
NM_000089.4(COL1A2):c.2081G>A (p.Gly694Asp)
NM_000089.4(COL1A2):c.2098G>C (p.Gly700Arg) rs72658160
NM_000089.4(COL1A2):c.2133+6T>A rs72658164
NM_000089.4(COL1A2):c.2152G>A (p.Gly718Ser) rs72658168
NM_000089.4(COL1A2):c.2188G>A (p.Gly730Ser) rs72658171
NM_000089.4(COL1A2):c.2206G>T (p.Gly736Cys) rs72658173
NM_000089.4(COL1A2):c.2215G>A (p.Gly739Arg) rs72658174
NM_000089.4(COL1A2):c.2215G>C (p.Gly739Arg) rs72658174
NM_000089.4(COL1A2):c.2251G>A (p.Gly751Ser) rs72658176
NM_000089.4(COL1A2):c.2252G>T (p.Gly751Val) rs1792139807
NM_000089.4(COL1A2):c.226-2A>G rs72656355
NM_000089.4(COL1A2):c.2260G>T (p.Gly754Cys) rs72658177
NM_000089.4(COL1A2):c.2278G>A (p.Gly760Arg) rs1584326393
NM_000089.4(COL1A2):c.2288G>A (p.Gly763Asp) rs72658179
NM_000089.4(COL1A2):c.2295+1G>A
NM_000089.4(COL1A2):c.2296G>A (p.Gly766Ser) rs72658182
NM_000089.4(COL1A2):c.2296G>C (p.Gly766Arg) rs72658182
NM_000089.4(COL1A2):c.2305G>A (p.Gly769Ser)
NM_000089.4(COL1A2):c.2305G>T (p.Gly769Cys) rs1792147522
NM_000089.4(COL1A2):c.2314G>A (p.Gly772Ser) rs72658185
NM_000089.4(COL1A2):c.2323G>C (p.Gly775Arg) rs2115933691
NM_000089.4(COL1A2):c.2324G>A (p.Gly775Glu) rs1792148801
NM_000089.4(COL1A2):c.2330GTG[1] (p.Gly778del)
NM_000089.4(COL1A2):c.2341G>C (p.Gly781Arg) rs1792149726
NM_000089.4(COL1A2):c.2348dup (p.Gly784fs)
NM_000089.4(COL1A2):c.2359G>T (p.Gly787Cys)
NM_000089.4(COL1A2):c.2360G>C (p.Gly787Ala) rs2115936945
NM_000089.4(COL1A2):c.2387G>C (p.Gly796Ala) rs72658189
NM_000089.4(COL1A2):c.2413G>T (p.Gly805Cys) rs72658190
NM_000089.4(COL1A2):c.2422G>A (p.Gly808Ser) rs763053421
NM_000089.4(COL1A2):c.2431G>A (p.Gly811Ser) rs2115940948
NM_000089.4(COL1A2):c.2521G>A (p.Gly841Ser) rs72658194
NM_000089.4(COL1A2):c.2539G>A (p.Gly847Ser)
NM_000089.4(COL1A2):c.2565+1G>A rs72658198
NM_000089.4(COL1A2):c.2565+1G>C rs72658198
NM_000089.4(COL1A2):c.2565+2T>A rs2115941689
NM_000089.4(COL1A2):c.2565+3_2565+6del rs1584328061
NM_000089.4(COL1A2):c.2576G>A (p.Gly859Asp)
NM_000089.4(COL1A2):c.2603G>C (p.Gly868Ala) rs2115946426
NM_000089.4(COL1A2):c.2674-3T>G rs72659303
NM_000089.4(COL1A2):c.2675G>A (p.Gly892Asp) rs72659304
NM_000089.4(COL1A2):c.2711G>T (p.Gly904Val)
NM_000089.4(COL1A2):c.2719G>A (p.Gly907Ser) rs1554398251
NM_000089.4(COL1A2):c.271G>T (p.Gly91Ter) rs764355552
NM_000089.4(COL1A2):c.2746G>A (p.Gly916Arg) rs72659308
NM_000089.4(COL1A2):c.2755G>T (p.Gly919Cys) rs749621872
NM_000089.4(COL1A2):c.2756G>A (p.Gly919Asp) rs1554398261
NM_000089.4(COL1A2):c.279+2T>C rs72656357
NM_000089.4(COL1A2):c.2791G>A (p.Gly931Arg) rs1792256171
NM_000089.4(COL1A2):c.279G>A (p.Met93Ile) rs72656356
NM_000089.4(COL1A2):c.2819G>T (p.Gly940Val) rs1792257312
NM_000089.4(COL1A2):c.2827G>A (p.Gly943Arg) rs193922165
NM_000089.4(COL1A2):c.2835+1G>A rs72659310
NM_000089.4(COL1A2):c.2835+1G>T
NM_000089.4(COL1A2):c.2845G>A (p.Gly949Ser) rs72659312
NM_000089.4(COL1A2):c.2882G>A (p.Gly961Asp)
NM_000089.4(COL1A2):c.2918G>A (p.Gly973Asp)
NM_000089.4(COL1A2):c.2944G>A (p.Gly982Ser) rs1792269292
NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser) rs72659319
NM_000089.4(COL1A2):c.3124G>A (p.Gly1042Ser) rs72659327
NM_000089.4(COL1A2):c.3143G>A (p.Gly1048Asp)
NM_000089.4(COL1A2):c.3170G>A (p.Gly1057Asp) rs2115957747
NM_000089.4(COL1A2):c.3233G>A (p.Gly1078Asp) rs72659332
NM_000089.4(COL1A2):c.3238C>T (p.Arg1080Ter) rs780395429
NM_000089.4(COL1A2):c.3250G>T (p.Gly1084Cys) rs1792298693
NM_000089.4(COL1A2):c.3276del (p.Gly1093fs) rs1173518955
NM_000089.4(COL1A2):c.3277G>C (p.Gly1093Arg) rs2115959456
NM_000089.4(COL1A2):c.3286G>A (p.Gly1096Ser) rs1792308325
NM_000089.4(COL1A2):c.3287G>A (p.Gly1096Asp)
NM_000089.4(COL1A2):c.3305G>A (p.Gly1102Asp)
NM_000089.4(COL1A2):c.3358G>A (p.Asp1120Asn) rs2115959912
NM_000089.4(COL1A2):c.3359A>G (p.Asp1120Gly) rs2115959926
NM_000089.4(COL1A2):c.335G>A (p.Gly112Asp) rs1791759246
NM_000089.4(COL1A2):c.343G>A (p.Gly115Arg) rs1791759301
NM_000089.4(COL1A2):c.3495C>G (p.Asp1165Glu) rs72659340
NM_000089.4(COL1A2):c.353G>A (p.Gly118Asp)
NM_000089.4(COL1A2):c.353G>T (p.Gly118Val) rs72656358
NM_000089.4(COL1A2):c.3583T>A (p.Cys1195Ser)
NM_000089.4(COL1A2):c.3583T>C (p.Cys1195Arg) rs2115962248
NM_000089.4(COL1A2):c.3584G>C (p.Cys1195Ser)
NM_000089.4(COL1A2):c.362G>A (p.Gly121Asp) rs2115875700
NM_000089.4(COL1A2):c.3815G>T (p.Cys1272Phe) rs1554398835
NM_000089.4(COL1A2):c.389G>T (p.Gly130Val) rs72656360
NM_000089.4(COL1A2):c.402_413del (p.Ala135_Pro138del)
NM_000089.4(COL1A2):c.407G>A (p.Gly136Asp) rs1057524847
NM_000089.4(COL1A2):c.432+1G>A rs1554395431
NM_000089.4(COL1A2):c.432+1G>C
NM_000089.4(COL1A2):c.432+1G>T rs1554395431
NM_000089.4(COL1A2):c.432+4_432+7del rs72656363
NM_000089.4(COL1A2):c.432+5G>A rs72656364
NM_000089.4(COL1A2):c.433-1G>C
NM_000089.4(COL1A2):c.433-2A>C rs1554395471
NM_000089.4(COL1A2):c.434G>A (p.Gly145Asp)
NM_000089.4(COL1A2):c.454C>T (p.Arg152Ter) rs1791771616
NM_000089.4(COL1A2):c.478G>A (p.Gly160Arg)
NM_000089.4(COL1A2):c.486+1G>A
NM_000089.4(COL1A2):c.487-4_501del rs74315146
NM_000089.4(COL1A2):c.542G>A (p.Gly181Glu)
NM_000089.4(COL1A2):c.569G>A (p.Gly190Glu) rs72656369
NM_000089.4(COL1A2):c.569G>T (p.Gly190Val)
NM_000089.4(COL1A2):c.577G>A (p.Gly193Ser) rs72656370
NM_000089.4(COL1A2):c.577G>C (p.Gly193Arg)
NM_000089.4(COL1A2):c.586G>A (p.Gly196Ser) rs1057517953
NM_000089.4(COL1A2):c.586G>C (p.Gly196Arg)
NM_000089.4(COL1A2):c.586G>T (p.Gly196Cys) rs1057517953
NM_000089.4(COL1A2):c.587G>A (p.Gly196Asp)
NM_000089.4(COL1A2):c.587G>T (p.Gly196Val)
NM_000089.4(COL1A2):c.594+1G>T rs2115881240
NM_000089.4(COL1A2):c.605G>A (p.Gly202Asp) rs72656377
NM_000089.4(COL1A2):c.632G>A (p.Gly211Asp) rs72656378
NM_000089.4(COL1A2):c.693+1G>A
NM_000089.4(COL1A2):c.693+1G>C rs72656381
NM_000089.4(COL1A2):c.693+2T>C rs66516450
NM_000089.4(COL1A2):c.694-1G>C
NM_000089.4(COL1A2):c.731G>A (p.Gly244Asp) rs1584318303
NM_000089.4(COL1A2):c.739G>C (p.Gly247Arg)
NM_000089.4(COL1A2):c.767G>A (p.Gly256Asp) rs67525025
NM_000089.4(COL1A2):c.767G>T (p.Gly256Val) rs67525025
NM_000089.4(COL1A2):c.792G>A (p.Lys264=) rs2115890442
NM_000089.4(COL1A2):c.793G>C (p.Gly265Arg) rs1114167417
NM_000089.4(COL1A2):c.794G>A (p.Gly265Asp) rs72656386
NM_000089.4(COL1A2):c.794G>T (p.Gly265Val) rs72656386
NM_000089.4(COL1A2):c.812G>A (p.Gly271Asp)
NM_000089.4(COL1A2):c.821G>A (p.Gly274Asp) rs67675951
NM_000089.4(COL1A2):c.830G>T (p.Gly277Val) rs752431578
NM_000089.4(COL1A2):c.838G>T (p.Gly280Cys)
NM_000089.4(COL1A2):c.839G>C (p.Gly280Ala)
NM_000089.4(COL1A2):c.856G>A (p.Gly286Ser) rs1114167418
NM_000089.4(COL1A2):c.856G>T (p.Gly286Cys)
NM_000089.4(COL1A2):c.857G>C (p.Gly286Ala) rs67210352
NM_000089.4(COL1A2):c.874G>A (p.Gly292Ser) rs906553840
NM_000089.4(COL1A2):c.874G>C (p.Gly292Arg) rs906553840
NM_000089.4(COL1A2):c.874G>T (p.Gly292Cys) rs906553840
NM_000089.4(COL1A2):c.875G>T (p.Gly292Val) rs1131692167
NM_000089.4(COL1A2):c.892G>A (p.Gly298Ser) rs72656389
NM_000089.4(COL1A2):c.893G>T (p.Gly298Val)
NM_000089.4(COL1A2):c.901G>A (p.Gly301Arg) rs2115893133
NM_000089.4(COL1A2):c.910G>A (p.Gly304Ser) rs1054264002
NM_000089.4(COL1A2):c.920G>A (p.Gly307Asp) rs72656390
NM_000089.4(COL1A2):c.929G>T (p.Gly310Val)
NM_000089.4(COL1A2):c.937G>T (p.Gly313Cys)
NM_000089.4(COL1A2):c.956G>A (p.Gly319Glu) rs1554396083
NM_000089.4(COL1A2):c.964G>A (p.Gly322Ser) rs72656394
NM_000089.4(COL1A2):c.974G>T (p.Gly325Val)
NM_000089.4(COL1A2):c.982G>A (p.Gly328Ser) rs66612022
NM_000093.4(COL5A1):c.2389delG rs1564453833
NM_000093.4(COL5A1):c.2594dup rs1837444858
NM_000093.4(COL5A1):c.3746delG rs35002351
NM_000093.4(COL5A1):c.4232delG rs1060502259
NM_000093.5(COL5A1):c.105del (p.Ala36fs) rs2132455125
NM_000093.5(COL5A1):c.1075G>T (p.Glu359Ter) rs769752636
NM_000093.5(COL5A1):c.1094_1095del (p.Asp365fs) rs1834837756
NM_000093.5(COL5A1):c.109G>C (p.Ala37Pro) rs2132455136
NM_000093.5(COL5A1):c.1114_1115del (p.Ala372fs)
NM_000093.5(COL5A1):c.1194_1196delinsG (p.Asp398fs) rs1834879370
NM_000093.5(COL5A1):c.1364del (p.Lys455fs) rs1564418237
NM_000093.5(COL5A1):c.1503del (p.Gly502fs) rs1554792011
NM_000093.5(COL5A1):c.1611dup (p.Met538fs)
NM_000093.5(COL5A1):c.1628_1630dup (p.Ser544Ter) rs2132683271
NM_000093.5(COL5A1):c.1630del (p.Ser544fs) rs2132683277
NM_000093.5(COL5A1):c.1639C>T (p.Gln547Ter) rs201625736
NM_000093.5(COL5A1):c.1654C>T (p.Gln552Ter)
NM_000093.5(COL5A1):c.1720-136_1929del
NM_000093.5(COL5A1):c.1727del (p.Pro576fs) rs1488498065
NM_000093.5(COL5A1):c.1728del (p.Ser578fs) rs2132689832
NM_000093.5(COL5A1):c.1780C>T (p.Arg594Ter) rs1554792869
NM_000093.5(COL5A1):c.1789C>T (p.Gln597Ter) rs2132690786
NM_000093.5(COL5A1):c.1937_1946del rs2132717812
NM_000093.5(COL5A1):c.196C>T (p.Arg66Ter) rs1833258579
NM_000093.5(COL5A1):c.1989+1G>C rs1836462685
NM_000093.5(COL5A1):c.1A>G (p.Met1Val) rs2132454722
NM_000093.5(COL5A1):c.2034+1G>A rs886042173
NM_000093.5(COL5A1):c.2140C>T (p.Gln714Ter) rs1554796176
NM_000093.5(COL5A1):c.2143G>T (p.Gly715Ter) rs1060502258
NM_000093.5(COL5A1):c.2159del (p.Pro720fs) rs863223469
NM_000093.5(COL5A1):c.2159dup (p.Gly721fs) rs863223469
NM_000093.5(COL5A1):c.2164C>T (p.Gln722Ter) rs1564446117
NM_000093.5(COL5A1):c.2177del (p.Pro726fs)
NM_000093.5(COL5A1):c.225_226del (p.Tyr75_Arg76delinsTer)
NM_000093.5(COL5A1):c.228_229del (p.Arg76fs) rs1060502242
NM_000093.5(COL5A1):c.2312delinsTGGCAAAGA (p.Pro771fs)
NM_000093.5(COL5A1):c.2374C>T (p.Arg792Ter) rs121912933
NM_000093.5(COL5A1):c.2386-3C>G rs1564453831
NM_000093.5(COL5A1):c.2425G>T (p.Glu809Ter) rs1032017865
NM_000093.5(COL5A1):c.2430+1G>A rs1060502248
NM_000093.5(COL5A1):c.2430+1G>C
NM_000093.5(COL5A1):c.2553del (p.Asn852fs) rs1837406273
NM_000093.5(COL5A1):c.2565del (p.Gly856fs) rs1564457102
NM_000093.5(COL5A1):c.265C>T (p.Gln89Ter) rs1833261804
NM_000093.5(COL5A1):c.2660del (p.Phe887fs) rs1588551159
NM_000093.5(COL5A1):c.2701-25T>G rs765079080
NM_000093.5(COL5A1):c.2730dup (p.Gln911fs) rs2132802457
NM_000093.5(COL5A1):c.2734C>T (p.Arg912Ter) rs863223478
NM_000093.5(COL5A1):c.2897del (p.Pro966fs) rs1179967153
NM_000093.5(COL5A1):c.2918dup (p.Leu974fs)
NM_000093.5(COL5A1):c.2925_2926dup (p.Gly976fs)
NM_000093.5(COL5A1):c.2952+1G>C
NM_000093.5(COL5A1):c.2952+2_2952+3del rs1588562135
NM_000093.5(COL5A1):c.297_304dup (p.Ile102fs) rs1588448655
NM_000093.5(COL5A1):c.2988del (p.Gly997fs) rs764693725
NM_000093.5(COL5A1):c.2988dup (p.Gly997fs) rs764693725
NM_000093.5(COL5A1):c.2T>G (p.Met1Arg)
NM_000093.5(COL5A1):c.3069dup (p.Gly1024fs) rs863223473
NM_000093.5(COL5A1):c.3184C>T (p.Arg1062Ter) rs387906606
NM_000093.5(COL5A1):c.321del (p.Ala108fs) rs2132569651
NM_000093.5(COL5A1):c.3272del (p.Glu1091fs)
NM_000093.5(COL5A1):c.3297del (p.Ile1101fs) rs1838291478
NM_000093.5(COL5A1):c.3309_3325dup (p.Pro1109fs) rs1564471440
NM_000093.5(COL5A1):c.3317_3333del (p.Arg1106fs)
NM_000093.5(COL5A1):c.337C>T (p.Gln113Ter) rs2132569692
NM_000093.5(COL5A1):c.3397C>T (p.Arg1133Ter) rs886042045
NM_000093.5(COL5A1):c.3443dup (p.Val1149fs)
NM_000093.5(COL5A1):c.3455dup (p.Gly1153fs) rs2132838808
NM_000093.5(COL5A1):c.3514dup (p.Asp1172fs) rs2132841152
NM_000093.5(COL5A1):c.3553C>T (p.Gln1185Ter)
NM_000093.5(COL5A1):c.3566del (p.Gly1189fs)
NM_000093.5(COL5A1):c.3613C>T (p.Gln1205Ter) rs2132844990
NM_000093.5(COL5A1):c.3631C>T (p.Gln1211Ter) rs1307084213
NM_000093.5(COL5A1):c.3671dup (p.Gly1225fs) rs2132845192
NM_000093.5(COL5A1):c.3684del (p.Leu1229fs) rs1564475090
NM_000093.5(COL5A1):c.3752del (p.Pro1251fs) rs786205100
NM_000093.5(COL5A1):c.3752dup (p.Pro1253fs) rs786205100
NM_000093.5(COL5A1):c.3769C>T (p.Arg1257Ter) rs748870349
NM_000093.5(COL5A1):c.3772G>T (p.Gly1258Ter)
NM_000093.5(COL5A1):c.3788del (p.Pro1263fs)
NM_000093.5(COL5A1):c.3805C>T (p.Gln1269Ter) rs1554805142
NM_000093.5(COL5A1):c.3833_3846del (p.Pro1278fs) rs2132848313
NM_000093.5(COL5A1):c.3G>T (p.Met1Ile)
NM_000093.5(COL5A1):c.4050dup (p.Gly1351fs) rs758337699
NM_000093.5(COL5A1):c.4068G>A (p.Ala1356=) rs863223452
NM_000093.5(COL5A1):c.4088del (p.Gly1363fs) rs2132856138
NM_000093.5(COL5A1):c.4114G>A (p.Gly1372Arg) rs1838729952
NM_000093.5(COL5A1):c.4126dup (p.Ser1376fs) rs1131691820
NM_000093.5(COL5A1):c.4203del (p.Gly1402fs) rs1060502255
NM_000093.5(COL5A1):c.4214del (p.Gly1405fs)
NM_000093.5(COL5A1):c.4266_4285del (p.Ile1425fs)
NM_000093.5(COL5A1):c.4282del (p.Gln1428fs) rs2132864123
NM_000093.5(COL5A1):c.4318C>T (p.Arg1440Ter) rs2132864295
NM_000093.5(COL5A1):c.4370del (p.Pro1457fs)
NM_000093.5(COL5A1):c.4383dup (p.Gly1462fs) rs2132864817
NM_000093.5(COL5A1):c.4385del (p.Gly1462fs) rs2132864836
NM_000093.5(COL5A1):c.4389del (p.Met1464fs) rs2132864849
NM_000093.5(COL5A1):c.4415_4416insTTTG (p.Lys1473fs)
NM_000093.5(COL5A1):c.4474G>A (p.Gly1492Ser) rs863223458
NM_000093.5(COL5A1):c.4476TCC[1] (p.Pro1494del) rs1838936100
NM_000093.5(COL5A1):c.4525C>T (p.Gln1509Ter)
NM_000093.5(COL5A1):c.4545_4549dup (p.Glu1517fs) rs1588589663
NM_000093.5(COL5A1):c.456C>A (p.Tyr152Ter)
NM_000093.5(COL5A1):c.4598dup (p.Gly1534fs)
NM_000093.5(COL5A1):c.4599del (p.Gly1534fs)
NM_000093.5(COL5A1):c.4604dup (p.Pro1536fs) rs2132874649
NM_000093.5(COL5A1):c.4628del (p.Gly1543fs) rs1839084095
NM_000093.5(COL5A1):c.4656_4660del (p.Pro1553fs) rs1554807812
NM_000093.5(COL5A1):c.4673dup (p.His1559fs)
NM_000093.5(COL5A1):c.4693_4694insT (p.Pro1565fs)
NM_000093.5(COL5A1):c.4697dup (p.Glu1571fs) rs1131691996
NM_000093.5(COL5A1):c.4714del (p.Val1572fs) rs2132883536
NM_000093.5(COL5A1):c.4738del (p.Ala1580fs)
NM_000093.5(COL5A1):c.4836_4854del (p.Phe1612fs) rs2132884146
NM_000093.5(COL5A1):c.4909del (p.Arg1637fs) rs1564487306
NM_000093.5(COL5A1):c.4927C>T (p.Gln1643Ter) rs1219304070
NM_000093.5(COL5A1):c.494G>A (p.Trp165Ter) rs1588449879
NM_000093.5(COL5A1):c.495G>A (p.Trp165Ter)
NM_000093.5(COL5A1):c.4962C>A (p.Tyr1654Ter)
NM_000093.5(COL5A1):c.5012G>A (p.Cys1671Tyr) rs1554808357
NM_000093.5(COL5A1):c.5032dup (p.Ser1678fs) rs2132887783
NM_000093.5(COL5A1):c.5084G>A (p.Trp1695Ter)
NM_000093.5(COL5A1):c.5155G>T (p.Glu1719Ter) rs776640704
NM_000093.5(COL5A1):c.5175_5200dup (p.Leu1734delinsArgTyrArgTer) rs2132925550
NM_000093.5(COL5A1):c.5218C>T (p.Gln1740Ter) rs2132925640
NM_000093.5(COL5A1):c.5229_5230del (p.Tyr1744fs) rs2132925682
NM_000093.5(COL5A1):c.5241C>G (p.Tyr1747Ter)
NM_000093.5(COL5A1):c.5293dup (p.Arg1765fs) rs1839803841
NM_000093.5(COL5A1):c.5299del (p.Leu1767fs) rs1554726279
NM_000093.5(COL5A1):c.5317del (p.Glu1773fs) rs1554726283
NM_000093.5(COL5A1):c.5319_5320dup (p.Met1774fs)
NM_000093.5(COL5A1):c.5336_5337delinsG (p.Asn1779fs) rs1588615658
NM_000093.5(COL5A1):c.5340dup (p.Tyr1781fs) rs2132926166
NM_000093.5(COL5A1):c.5370+3_5370+6del rs786200923
NM_000093.5(COL5A1):c.5377_5380del (p.Lys1793fs) rs1830124408
NM_000093.5(COL5A1):c.5386C>T (p.Gln1796Ter) rs1588621711
NM_000093.5(COL5A1):c.5415del (p.Val1807fs) rs2132943031
NM_000093.5(COL5A1):c.5417_5420dup (p.Glu1808fs)
NM_000093.5(COL5A1):c.5425C>T (p.Gln1809Ter) rs2132943056
NM_000093.5(COL5A1):c.5498dup (p.Ala1834fs) rs1564191704
NM_000093.5(COL5A1):c.643G>T (p.Glu215Ter) rs2132573338
NM_000093.5(COL5A1):c.708C>A (p.Tyr236Ter)
NM_000093.5(COL5A1):c.74T>G (p.Leu25Arg) rs1831316527
NM_000093.5(COL5A1):c.761C>A (p.Ser254Ter) rs144844792
NM_000093.5(COL5A1):c.786+1G>A
NM_000093.5(COL5A1):c.786+5G>A rs2132632978
NM_000093.5(COL5A1):c.849del (p.Glu284fs) rs1588477255
NM_000093.5(COL5A1):c.865G>T (p.Glu289Ter)
NM_000093.5(COL5A1):c.876dup (p.Ser293fs) rs1834751333
NM_000093.5(COL5A1):c.904G>T (p.Glu302Ter) rs1554787811
NM_000393.5(COL5A2):c.1066C>T (p.Arg356Ter)
NM_000393.5(COL5A2):c.1402-2A>G
NM_000393.5(COL5A2):c.1924-4C>G rs1559085578
NM_000393.5(COL5A2):c.1977G>A (p.Pro659=) rs863223491
NM_000393.5(COL5A2):c.2137C>T (p.Arg713Ter)
NM_000393.5(COL5A2):c.2769+2dup
NM_000393.5(COL5A2):c.2919dup (p.Asp974fs) rs1685782021
NM_000393.5(COL5A2):c.3147+1G>A rs1685734160
NM_000393.5(COL5A2):c.3201+1G>T
NM_000393.5(COL5A2):c.3309G>A (p.Pro1103=) rs878853978
NM_000393.5(COL5A2):c.3406C>T (p.Arg1136Ter)
NM_000393.5(COL5A2):c.386del (p.Gly129fs) rs2105686874
NM_000393.5(COL5A2):c.387del (p.Arg130fs) rs2105686869
NM_000393.5(COL5A2):c.690+5G>T rs1576517517
NM_000393.5(COL5A2):c.971G>A (p.Gly324Asp) rs2105632746
NM_001278074.1(COL5A1):c.3206dup (p.Ala1070Serfs) rs1554803622

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