ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, type 4 by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 231
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HGVS dbSNP
NC_000002.11:g.(?_189839196)_(189839314_?)dup
NC_000002.11:g.(?_189839196)_(190445206_?)del
NC_000002.11:g.(?_189852807)_(189855783_?)dup
NM_000090.3(COL3A1):c.110A>T (p.Gln37Leu) rs1060500205
NM_000090.3(COL3A1):c.1128C>T (p.His376=) rs771015742
NM_000090.3(COL3A1):c.1129G>A (p.Ala377Thr) rs1248348633
NM_000090.3(COL3A1):c.1149+1G>A (p.Gly351_Pro383del) rs587779443
NM_000090.3(COL3A1):c.1165A>T (p.Asn389Tyr) rs200394946
NM_000090.3(COL3A1):c.1196G>C (p.Gly399Ala) rs1060500194
NM_000090.3(COL3A1):c.1198C>T (p.Pro400Ser) rs1229093142
NM_000090.3(COL3A1):c.119C>T (p.Ala40Val) rs201380807
NM_000090.3(COL3A1):c.1201G>A (p.Ala401Thr) rs373858715
NM_000090.3(COL3A1):c.1241G>T (p.Gly414Val) rs794728044
NM_000090.3(COL3A1):c.1258G>A (p.Gly420Ser) rs587779692
NM_000090.3(COL3A1):c.1294-1G>C rs1060500204
NM_000090.3(COL3A1):c.1297G>A (p.Glu433Lys) rs150670470
NM_000090.3(COL3A1):c.1330G>A (p.Gly444Arg) rs587779489
NM_000090.3(COL3A1):c.1335A>G (p.Pro445=) rs1193108024
NM_000090.3(COL3A1):c.1336C>T (p.Arg446Cys)
NM_000090.3(COL3A1):c.1347+1G>A (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+) rs397509370
NM_000090.3(COL3A1):c.1347+6T>C
NM_000090.3(COL3A1):c.134G>A (p.Trp45Ter) rs1559052609
NM_000090.3(COL3A1):c.13G>A (p.Val5Met) rs1461198652
NM_000090.3(COL3A1):c.1435C>T (p.Pro479Ser)
NM_000090.3(COL3A1):c.1484G>A (p.Gly495Glu) rs1057524653
NM_000090.3(COL3A1):c.1496T>C (p.Ile499Thr) rs1001748912
NM_000090.3(COL3A1):c.1502G>A (p.Gly501Glu) rs1559056621
NM_000090.3(COL3A1):c.1509+7_1509+21del rs781662866
NM_000090.3(COL3A1):c.1525C>T (p.Arg509Cys) rs1485092842
NM_000090.3(COL3A1):c.1526G>A (p.Arg509His) rs568986390
NM_000090.3(COL3A1):c.1584C>T (p.Gly528=) rs946270867
NM_000090.3(COL3A1):c.1585G>A (p.Val529Ile) rs140257722
NM_000090.3(COL3A1):c.1594G>A (p.Gly532Ser) rs138166497
NM_000090.3(COL3A1):c.1610delG rs587779702
NM_000090.3(COL3A1):c.1617C>A (p.Pro539=) rs141091206
NM_000090.3(COL3A1):c.1618G>A (p.Gly540Arg) rs587779584
NM_000090.3(COL3A1):c.1642G>A (p.Asp548Asn) rs1293397335
NM_000090.3(COL3A1):c.1652del (p.Pro551fs) rs1060500199
NM_000090.3(COL3A1):c.1662C>T (p.Pro554=) rs373963384
NM_000090.3(COL3A1):c.1684C>T (p.Arg562Ter) rs375737772
NM_000090.3(COL3A1):c.1694C>A (p.Pro565His) rs144260440
NM_000090.3(COL3A1):c.1697C>T (p.Pro566Leu) rs150543864
NM_000090.3(COL3A1):c.1708G>A (p.Gly570Ser) rs1553508238
NM_000090.3(COL3A1):c.1716A>C (p.Arg572=) rs751916055
NM_000090.3(COL3A1):c.1761+6T>C rs189483688
NM_000090.3(COL3A1):c.1763G>A (p.Gly588Asp) rs587779691
NM_000090.3(COL3A1):c.178G>A (p.Val60Ile) rs762028131
NM_000090.3(COL3A1):c.1804C>G (p.Pro602Ala) rs35795890
NM_000090.3(COL3A1):c.1820C>T (p.Pro607Leu) rs1039226542
NM_000090.3(COL3A1):c.1851_1855delinsAG (p.Gly618_Pro619delinsAla)
NM_000090.3(COL3A1):c.1856C>T (p.Pro619Leu) rs373838193
NM_000090.3(COL3A1):c.1869+3A>C
NM_000090.3(COL3A1):c.1869+5G>T (p.Gly606_Thr623del) rs397509376
NM_000090.3(COL3A1):c.1870-9C>T rs777339506
NM_000090.3(COL3A1):c.1885A>G (p.Lys629Glu)
NM_000090.3(COL3A1):c.1895C>T (p.Thr632Ile)
NM_000090.3(COL3A1):c.1972G>A (p.Glu658Lys) rs189846410
NM_000090.3(COL3A1):c.1977+5G>C rs1553508544
NM_000090.3(COL3A1):c.1980T>C (p.Gly660=) rs1553508597
NM_000090.3(COL3A1):c.198A>G (p.Ile66Met) rs372269408
NM_000090.3(COL3A1):c.1996G>A (p.Gly666Ser)
NM_000090.3(COL3A1):c.2022+2T>C (p.Gly660_Lys674del) rs587779429
NM_000090.3(COL3A1):c.2022+6A>T rs368117488
NM_000090.3(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773
NM_000090.3(COL3A1):c.203A>G (p.Asp68Gly) rs376603102
NM_000090.3(COL3A1):c.2048G>A (p.Arg683His) rs753162027
NM_000090.3(COL3A1):c.204C>T (p.Asp68=) rs368299739
NM_000090.3(COL3A1):c.2051G>A (p.Gly684Glu)
NM_000090.3(COL3A1):c.2067_2072del (p.Gly690_Ala691del)
NM_000090.3(COL3A1):c.2074C>A (p.Pro692Thr) rs1160258883
NM_000090.3(COL3A1):c.2107C>T (p.Pro703Ser) rs780123051
NM_000090.3(COL3A1):c.2110G>A (p.Glu704Lys) rs863223362
NM_000090.3(COL3A1):c.2156C>G (p.Ala719Gly) rs1559058681
NM_000090.3(COL3A1):c.2159G>A (p.Gly720Asp)
NM_000090.3(COL3A1):c.2168G>A (p.Gly723Asp) rs587779581
NM_000090.3(COL3A1):c.2194G>A (p.Gly732Arg) rs587779606
NM_000090.3(COL3A1):c.2199T>C (p.Gly733=) rs762547633
NM_000090.3(COL3A1):c.2212G>A (p.Gly738Ser) rs121912925
NM_000090.3(COL3A1):c.2220G>A (p.Lys740=) rs541557925
NM_000090.3(COL3A1):c.2229+1G>A
NM_000090.3(COL3A1):c.2238A>G (p.Pro746=) rs1311262989
NM_000090.3(COL3A1):c.2241C>T (p.Gly747=) rs745440847
NM_000090.3(COL3A1):c.2247A>G (p.Pro749=) rs1553508706
NM_000090.3(COL3A1):c.2264C>A (p.Pro755Gln) rs1553508711
NM_000090.3(COL3A1):c.226A>G (p.Asn76Asp) rs142045411
NM_000090.3(COL3A1):c.2283+1G>A rs1559058970
NM_000090.3(COL3A1):c.2312G>A (p.Gly771Asp) rs1060500193
NM_000090.3(COL3A1):c.2351C>A (p.Ala784Asp)
NM_000090.3(COL3A1):c.2364A>G (p.Pro788=) rs886055332
NM_000090.3(COL3A1):c.2392-3_2395del rs1559059873
NM_000090.3(COL3A1):c.2399G>A (p.Arg800Lys) rs199564715
NM_000090.3(COL3A1):c.242T>C (p.Phe81Ser)
NM_000090.3(COL3A1):c.2445+5G>A (p.Gly798_Pro815del) rs587779636
NM_000090.3(COL3A1):c.2446-10T>C rs1060500195
NM_000090.3(COL3A1):c.2489C>T (p.Pro830Leu) rs886038849
NM_000090.3(COL3A1):c.2498A>G (p.Lys833Arg) rs371344739
NM_000090.3(COL3A1):c.2522T>C (p.Val841Ala)
NM_000090.3(COL3A1):c.2553+1G>A (p.Gly816_Ala851del) rs587779664
NM_000090.3(COL3A1):c.2569C>T (p.Gln857Ter) rs1559060412
NM_000090.3(COL3A1):c.2606C>A (p.Pro869His) rs794728052
NM_000090.3(COL3A1):c.2665A>T (p.Asn889Tyr) rs761469859
NM_000090.3(COL3A1):c.266C>T (p.Pro89Leu) rs139610730
NM_000090.3(COL3A1):c.2675C>T (p.Pro892Leu) rs1447793042
NM_000090.3(COL3A1):c.2723C>T (p.Ala908Val) rs144036995
NM_000090.3(COL3A1):c.2724G>A (p.Ala908=) rs754015151
NM_000090.3(COL3A1):c.272C>T (p.Pro91Leu) rs534898281
NM_000090.3(COL3A1):c.2733T>C (p.Thr911=) rs138961881
NM_000090.3(COL3A1):c.2762G>A (p.Gly921Glu) rs1553509187
NM_000090.3(COL3A1):c.2819C>A (p.Pro940Gln) rs1221479337
NM_000090.3(COL3A1):c.2824G>A (p.Gly942Arg) rs587779438
NM_000090.3(COL3A1):c.2828del (p.Ala943fs) rs1553509208
NM_000090.3(COL3A1):c.2839C>T (p.Leu947Phe) rs1060500198
NM_000090.3(COL3A1):c.2843G>A (p.Gly948Glu) rs878853651
NM_000090.3(COL3A1):c.2848G>A (p.Ala950Thr) rs1170896025
NM_000090.3(COL3A1):c.2870G>T (p.Gly957Val) rs587779654
NM_000090.3(COL3A1):c.289C>G (p.Arg97Gly) rs768671254
NM_000090.3(COL3A1):c.290G>A (p.Arg97His) rs1197947308
NM_000090.3(COL3A1):c.2913T>G (p.Pro971=) rs367872728
NM_000090.3(COL3A1):c.2927T>C (p.Val976Ala) rs886038939
NM_000090.3(COL3A1):c.2963T>A (p.Leu988His) rs770525372
NM_000090.3(COL3A1):c.2989C>T (p.Pro997Ser) rs1060500202
NM_000090.3(COL3A1):c.3040G>A (p.Gly1014Arg) rs1553509391
NM_000090.3(COL3A1):c.3066A>G (p.Pro1022=) rs756680770
NM_000090.3(COL3A1):c.3071G>A (p.Arg1024Gln) rs1484867480
NM_000090.3(COL3A1):c.3094-10_3094delinsGT rs1559061674
NM_000090.3(COL3A1):c.3098A>T (p.Asp1033Val) rs1060500206
NM_000090.3(COL3A1):c.3100C>T (p.Arg1034Cys) rs1178112512
NM_000090.3(COL3A1):c.3103G>A (p.Gly1035Ser) rs587779704
NM_000090.3(COL3A1):c.3103G>T (p.Gly1035Cys) rs587779704
NM_000090.3(COL3A1):c.3112G>C (p.Gly1038Arg) rs1559061706
NM_000090.3(COL3A1):c.316G>A (p.Gly106Ser) rs180938313
NM_000090.3(COL3A1):c.3170C>G (p.Pro1057Arg)
NM_000090.3(COL3A1):c.3193G>A (p.Gly1065Arg) rs587779563
NM_000090.3(COL3A1):c.3194G>A (p.Gly1065Glu) rs1553509430
NM_000090.3(COL3A1):c.3200G>A (p.Ser1067Asn) rs886039067
NM_000090.3(COL3A1):c.3202-2A>G (p.Gly1068_Pro1085del) rs587779682
NM_000090.3(COL3A1):c.3202G>T (p.Gly1068Cys) rs1559061954
NM_000090.3(COL3A1):c.3208G>T (p.Ala1070Ser) rs376738516
NM_000090.3(COL3A1):c.3245G>A (p.Arg1082Gln) rs367754862
NM_000090.3(COL3A1):c.3255+1G>C
NM_000090.3(COL3A1):c.3256-43T>G (p.Pro1085_Gly1086insVCVYMTSIQNMFLK) rs587779667
NM_000090.3(COL3A1):c.3257G>T (p.Gly1086Val) rs1060500203
NM_000090.3(COL3A1):c.3266G>T (p.Gly1089Val)
NM_000090.3(COL3A1):c.3319G>A (p.Gly1107Arg) rs587779561
NM_000090.3(COL3A1):c.3325C>G (p.Arg1109Gly) rs112371422
NM_000090.3(COL3A1):c.3325C>T (p.Arg1109Ter) rs112371422
NM_000090.3(COL3A1):c.3326G>A (p.Arg1109Gln) rs730880062
NM_000090.3(COL3A1):c.3375T>C (p.Gly1125=) rs1355734194
NM_000090.3(COL3A1):c.3413C>T (p.Pro1138Leu) rs201880122
NM_000090.3(COL3A1):c.3440_3466del (p.Pro1147_Gly1155del)
NM_000090.3(COL3A1):c.3466C>T (p.His1156Tyr)
NM_000090.3(COL3A1):c.3474_3491dup (p.Ile1160_Pro1165dup)
NM_000090.3(COL3A1):c.3491G>A (p.Gly1164Glu) rs587779431
NM_000090.3(COL3A1):c.349C>A (p.Pro117Thr)
NM_000090.3(COL3A1):c.3500G>A (p.Gly1167Asp) rs587779578
NM_000090.3(COL3A1):c.3515G>C (p.Arg1172Thr) rs1553509668
NM_000090.3(COL3A1):c.3518G>A (p.Gly1173Glu) rs121912918
NM_000090.3(COL3A1):c.3566C>T (p.Pro1189Leu) rs752598062
NM_000090.3(COL3A1):c.3574G>A (p.Ala1192Thr)
NM_000090.3(COL3A1):c.3581G>A (p.Gly1194Asp) rs1553509744
NM_000090.3(COL3A1):c.3593G>A (p.Gly1198Asp)
NM_000090.3(COL3A1):c.3607G>A (p.Ala1203Thr) rs550665335
NM_000090.3(COL3A1):c.3626G>C (p.Gly1209Ala) rs374452484
NM_000090.3(COL3A1):c.3629G>A (p.Gly1210Asp) rs749543804
NM_000090.3(COL3A1):c.3653C>T (p.Pro1218Leu) rs763901831
NM_000090.3(COL3A1):c.3694G>A (p.Asp1232Asn) rs147663769
NM_000090.3(COL3A1):c.3796A>C (p.Lys1266Gln) rs946156674
NM_000090.3(COL3A1):c.3808C>A (p.Pro1270Thr) rs756724842
NM_000090.3(COL3A1):c.3823+1G>T
NM_000090.3(COL3A1):c.3833G>A (p.Trp1278Ter) rs1060500187
NM_000090.3(COL3A1):c.3914C>G (p.Ala1305Gly) rs1060500197
NM_000090.3(COL3A1):c.3926A>G (p.Asn1309Ser) rs1060500201
NM_000090.3(COL3A1):c.3937A>C (p.Lys1313Gln) rs886038983
NM_000090.3(COL3A1):c.4011+1G>T rs112532745
NM_000090.3(COL3A1):c.4012-2A>G rs1559063681
NM_000090.3(COL3A1):c.4020C>T (p.Tyr1340=) rs766750333
NM_000090.3(COL3A1):c.4038T>C (p.Pro1346=) rs113753099
NM_000090.3(COL3A1):c.4075C>A (p.Leu1359Ile) rs1400489265
NM_000090.3(COL3A1):c.4087C>T (p.Arg1363Ter) rs794728060
NM_000090.3(COL3A1):c.409C>A (p.Pro137Thr) rs1553506950
NM_000090.3(COL3A1):c.4135A>G (p.Met1379Val) rs1060500196
NM_000090.3(COL3A1):c.4165G>T (p.Ala1389Ser) rs202022204
NM_000090.3(COL3A1):c.4254+3A>G rs376799861
NM_000090.3(COL3A1):c.4257A>G (p.Lys1419=)
NM_000090.3(COL3A1):c.4295G>T (p.Arg1432Leu) rs772428340
NM_000090.3(COL3A1):c.4301G>A (p.Arg1434His) rs138533702
NM_000090.3(COL3A1):c.4319C>T (p.Pro1440Leu) rs1553510005
NM_000090.3(COL3A1):c.4327G>A (p.Asp1443Asn) rs1553510008
NM_000090.3(COL3A1):c.4332T>C (p.Ile1444=) rs1285255181
NM_000090.3(COL3A1):c.4346T>C (p.Ile1449Thr) rs932369090
NM_000090.3(COL3A1):c.4360C>T (p.Gln1454Ter)
NM_000090.3(COL3A1):c.4382G>T (p.Gly1461Val)
NM_000090.3(COL3A1):c.464A>G (p.Tyr155Cys) rs1160176510
NM_000090.3(COL3A1):c.469T>A (p.Ser157Thr)
NM_000090.3(COL3A1):c.472T>A (p.Tyr158Asn) rs756125442
NM_000090.3(COL3A1):c.515A>C (p.Tyr172Ser) rs771654029
NM_000090.3(COL3A1):c.528+5G>A rs794728038
NM_000090.3(COL3A1):c.546C>A (p.Pro182=) rs754584062
NM_000090.3(COL3A1):c.547G>A (p.Gly183Ser) rs121912926
NM_000090.3(COL3A1):c.554C>G (p.Pro185Arg) rs886038977
NM_000090.3(COL3A1):c.55A>G (p.Thr19Ala)
NM_000090.3(COL3A1):c.560C>T (p.Thr187Ile) rs371583734
NM_000090.3(COL3A1):c.582+10G>A rs1553507200
NM_000090.3(COL3A1):c.582+5G>A (p.Gly177_Pro194del) rs587779671
NM_000090.3(COL3A1):c.608del (p.Pro203fs) rs1553507265
NM_000090.3(COL3A1):c.619G>T (p.Gly207Trp) rs1553507274
NM_000090.3(COL3A1):c.621G>A (p.Gly207=) rs779352711
NM_000090.3(COL3A1):c.624A>G (p.Gln208=)
NM_000090.3(COL3A1):c.636+5G>A (p.Gly195_Ser212del) rs587779688
NM_000090.3(COL3A1):c.691-2A>G
NM_000090.3(COL3A1):c.709G>A (p.Gly237Arg) rs587779625
NM_000090.3(COL3A1):c.721G>A (p.Glu241Lys) rs1553507432
NM_000090.3(COL3A1):c.752A>G (p.Lys251Arg) rs151148197
NM_000090.3(COL3A1):c.80-1G>C rs1559052551
NM_000090.3(COL3A1):c.800G>T (p.Gly267Val) rs587779427
NM_000090.3(COL3A1):c.811C>T (p.Arg271Ter) rs1057521106
NM_000090.3(COL3A1):c.81del (p.Val28fs) rs1060500200
NM_000090.3(COL3A1):c.826G>A (p.Gly276Ser)
NM_000090.3(COL3A1):c.827G>T (p.Gly276Val)
NM_000090.3(COL3A1):c.838G>A (p.Ala280Thr)
NM_000090.3(COL3A1):c.845G>T (p.Gly282Val)
NM_000090.3(COL3A1):c.852+2T>C
NM_000090.3(COL3A1):c.873C>A (p.Gly291=) rs138569287
NM_000090.3(COL3A1):c.877A>G (p.Asn293Asp) rs1131691328
NM_000090.3(COL3A1):c.898-14A>G rs763316592
NM_000090.3(COL3A1):c.91G>C (p.Gly31Arg) rs374537884
NM_000090.3(COL3A1):c.937_938dup (p.Pro314fs)
NM_000090.3(COL3A1):c.944G>T (p.Gly315Val) rs587779487
NM_000090.3(COL3A1):c.953G>A (p.Gly318Asp) rs1553507614
NM_000090.3(COL3A1):c.962G>A (p.Gly321Asp) rs587779588
NM_000090.3(COL3A1):c.976C>T (p.Arg326Ter) rs587779607

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