ClinVar Miner

List of variants in gene COL3A1 reported as uncertain significance for Ehlers-Danlos syndrome

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 250
Download table as spreadsheet
HGVS dbSNP
NM_000090.3(COL3A1):c.*113C>T rs886055336
NM_000090.3(COL3A1):c.*317C>A rs886055337
NM_000090.3(COL3A1):c.*325C>A rs886055338
NM_000090.3(COL3A1):c.*370A>G rs886055339
NM_000090.3(COL3A1):c.*371G>T rs886055340
NM_000090.3(COL3A1):c.*406A>G rs770571552
NM_000090.3(COL3A1):c.*467T>A rs886055341
NM_000090.3(COL3A1):c.*625C>T rs886055342
NM_000090.3(COL3A1):c.*692G>A rs886055343
NM_000090.3(COL3A1):c.*818T>C rs886055344
NM_000090.3(COL3A1):c.*89G>A rs886055335
NM_000090.3(COL3A1):c.*947C>T rs886055345
NM_000090.3(COL3A1):c.-101G>A rs41265577
NM_000090.3(COL3A1):c.101A>G (p.His34Arg) rs752110396
NM_000090.3(COL3A1):c.110A>T (p.Gln37Leu) rs1060500205
NM_000090.3(COL3A1):c.1129G>A (p.Ala377Thr) rs1248348633
NM_000090.3(COL3A1):c.1150-13T>C rs201839712
NM_000090.3(COL3A1):c.1156C>T (p.Pro386Ser) rs757192342
NM_000090.3(COL3A1):c.1165A>T (p.Asn389Tyr) rs200394946
NM_000090.3(COL3A1):c.1198C>T (p.Pro400Ser) rs1229093142
NM_000090.3(COL3A1):c.1201G>A (p.Ala401Thr) rs373858715
NM_000090.3(COL3A1):c.121G>A (p.Asp41Asn) rs794728035
NM_000090.3(COL3A1):c.1234G>T (p.Ala412Ser) rs768314657
NM_000090.3(COL3A1):c.1235C>T (p.Ala412Val) rs1057519250
NM_000090.3(COL3A1):c.1297G>A (p.Glu433Lys) rs150670470
NM_000090.3(COL3A1):c.1336C>T (p.Arg446Cys) rs1238066761
NM_000090.3(COL3A1):c.1347+6T>C rs373343032
NM_000090.3(COL3A1):c.1348-4del rs758567906
NM_000090.3(COL3A1):c.1348-4dup rs758567906
NM_000090.3(COL3A1):c.1351G>A (p.Glu451Lys) rs1559056438
NM_000090.3(COL3A1):c.13G>A (p.Val5Met) rs1461198652
NM_000090.3(COL3A1):c.1435C>T (p.Pro479Ser) rs1425504057
NM_000090.3(COL3A1):c.1496T>C (p.Ile499Thr) rs1001748912
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.1550C>T (p.Pro517Leu) rs142085247
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.1609-17T>G rs1468376126
NM_000090.3(COL3A1):c.1642G>A (p.Asp548Asn) rs1293397335
NM_000090.3(COL3A1):c.1662C>T (p.Pro554=) rs373963384
NM_000090.3(COL3A1):c.1694C>A (p.Pro565His) rs144260440
NM_000090.3(COL3A1):c.1761+6T>C rs189483688
NM_000090.3(COL3A1):c.1787G>A (p.Arg596Gln) rs774632188
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.1813C>G (p.Gln605Glu) rs764299277
NM_000090.3(COL3A1):c.1820C>T (p.Pro607Leu) rs1039226542
NM_000090.3(COL3A1):c.1856C>T (p.Pro619Leu) rs373838193
NM_000090.3(COL3A1):c.1869+3A>C rs1576467168
NM_000090.3(COL3A1):c.1869+6T>G rs730880063
NM_000090.3(COL3A1):c.1885A>G (p.Lys629Glu) rs1466862530
NM_000090.3(COL3A1):c.1886A>G (p.Lys629Arg) rs1553508467
NM_000090.3(COL3A1):c.1895C>T (p.Thr632Ile) rs769039976
NM_000090.3(COL3A1):c.1972G>A (p.Glu658Lys) rs189846410
NM_000090.3(COL3A1):c.1977+5G>C rs1553508544
NM_000090.3(COL3A1):c.198A>G (p.Ile66Met) rs372269408
NM_000090.3(COL3A1):c.2022+6A>T rs368117488
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.2065G>T (p.Ala689Ser) rs886055331
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.2135C>T (p.Pro712Leu) rs780028064
NM_000090.3(COL3A1):c.2156C>G (p.Ala719Gly) rs1559058681
NM_000090.3(COL3A1):c.2220G>A (p.Lys740=) rs541557925
NM_000090.3(COL3A1):c.2241C>T (p.Gly747=) rs745440847
NM_000090.3(COL3A1):c.2242G>A (p.Gly748Ser) rs771585795
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.2351C>A (p.Ala784Asp) rs370292679
NM_000090.3(COL3A1):c.2364A>G (p.Pro788=) rs886055332
NM_000090.3(COL3A1):c.2381G>A (p.Arg794His) rs1332613006
NM_000090.3(COL3A1):c.2399G>A (p.Arg800Lys) rs199564715
NM_000090.3(COL3A1):c.242T>C (p.Phe81Ser) rs1576460785
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.2490G>A (p.Pro830=) rs777361888
NM_000090.3(COL3A1):c.2498A>G (p.Lys833Arg) rs371344739
NM_000090.3(COL3A1):c.2522T>C (p.Val841Ala) rs1466306398
NM_000090.3(COL3A1):c.2558_2559insATTAGGTGTCAAAGGTGAACGTGGCAG (p.Pro854_Gly855insLeuGlyValLysGlyGluArgGlySer) rs1135402747
NM_000090.3(COL3A1):c.2606C>A (p.Pro869His) rs794728052
NM_000090.3(COL3A1):c.2607T>A (p.Pro869=) rs376643618
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.2714C>T (p.Pro905Leu) rs886055333
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.2773G>A (p.Asp925Asn) rs929526823
NM_000090.3(COL3A1):c.2791G>A (p.Glu931Lys) rs1553509193
NM_000090.3(COL3A1):c.2819C>A (p.Pro940Gln) rs1221479337
NM_000090.3(COL3A1):c.2839C>T (p.Leu947Phe) rs1060500198
NM_000090.3(COL3A1):c.2848G>A (p.Ala950Thr) rs1170896025
NM_000090.3(COL3A1):c.284C>T (p.Pro95Leu) rs780260944
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.290G>T (p.Arg97Leu) rs1197947308
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.3068G>A (p.Gly1023Asp) rs1553509401
NM_000090.3(COL3A1):c.3071G>A (p.Arg1024Gln) rs1484867480
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.316G>A (p.Gly106Ser) rs180938313
NM_000090.3(COL3A1):c.3170C>G (p.Pro1057Arg) rs1576471860
NM_000090.3(COL3A1):c.3200G>A (p.Ser1067Asn) rs886039067
NM_000090.3(COL3A1):c.3201+10C>G rs372405344
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.3256-43T>G (p.Pro1085_Gly1086insVCVYMTSIQNMFLK) rs587779667
NM_000090.3(COL3A1):c.3312C>T (p.Gly1104=) rs752919642
NM_000090.3(COL3A1):c.3325C>G (p.Arg1109Gly) rs112371422
NM_000090.3(COL3A1):c.3326G>A (p.Arg1109Gln) rs730880062
NM_000090.3(COL3A1):c.3413C>T (p.Pro1138Leu) rs201880122
NM_000090.3(COL3A1):c.3440C>T (p.Pro1147Leu) rs889877870
NM_000090.3(COL3A1):c.3466C>T (p.His1156Tyr) rs776814693
NM_000090.3(COL3A1):c.3474_3491dup (p.Ile1160_Pro1165dup) rs1576472935
NM_000090.3(COL3A1):c.349C>A (p.Pro117Thr) rs1559052973
NM_000090.3(COL3A1):c.3515G>C (p.Arg1172Thr) rs1553509668
NM_000090.3(COL3A1):c.3525+3A>C rs1553509674
NM_000090.3(COL3A1):c.3566C>T (p.Pro1189Leu) rs752598062
NM_000090.3(COL3A1):c.3574G>A (p.Ala1192Thr) rs141587182
NM_000090.3(COL3A1):c.3576C>T (p.Ala1192=) rs574331101
NM_000090.3(COL3A1):c.3593G>A (p.Gly1198Asp) rs756858564
NM_000090.3(COL3A1):c.3604G>T (p.Ala1202Ser) rs1270244946
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.3818A>G (p.Lys1273Arg) rs144614075
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.3998A>G (p.Asp1333Gly) rs376651720
NM_000090.3(COL3A1):c.4020C>T (p.Tyr1340=) rs766750333
NM_000090.3(COL3A1):c.4075C>A (p.Leu1359Ile) rs1400489265
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.4142A>G (p.Gln1381Arg) rs886055334
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=) rs754723643
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.4340A>G (p.Tyr1447Cys) rs1407784923
NM_000090.3(COL3A1):c.4346T>C (p.Ile1449Thr) rs932369090
NM_000090.3(COL3A1):c.4360C>T (p.Gln1454Ter) rs1576474929
NM_000090.3(COL3A1):c.4382G>T (p.Gly1461Val) rs1576474944
NM_000090.3(COL3A1):c.464A>G (p.Tyr155Cys) rs1160176510
NM_000090.3(COL3A1):c.469T>A (p.Ser157Thr) rs1576461726
NM_000090.3(COL3A1):c.472T>A (p.Tyr158Asn) rs756125442
NM_000090.3(COL3A1):c.505C>T (p.Leu169Phe) rs111391222
NM_000090.3(COL3A1):c.515A>C (p.Tyr172Ser) rs771654029
NM_000090.3(COL3A1):c.528+5G>A rs794728038
NM_000090.3(COL3A1):c.529-5T>G rs886055329
NM_000090.3(COL3A1):c.546C>A (p.Pro182=) rs754584062
NM_000090.3(COL3A1):c.554C>G (p.Pro185Arg) rs886038977
NM_000090.3(COL3A1):c.55A>G (p.Thr19Ala) rs1300339107
NM_000090.3(COL3A1):c.560C>T (p.Thr187Ile) rs371583734
NM_000090.3(COL3A1):c.583-7T>C rs886055330
NM_000090.3(COL3A1):c.624A>G (p.Gln208=) rs527415370
NM_000090.3(COL3A1):c.667C>G (p.Pro223Ala) rs1325737333
NM_000090.3(COL3A1):c.706C>T (p.Pro236Ser) rs771858477
NM_000090.3(COL3A1):c.709G>A (p.Gly237Arg) rs587779625
NM_000090.3(COL3A1):c.752A>G (p.Lys251Arg) rs151148197
NM_000090.3(COL3A1):c.838G>A (p.Ala280Thr) rs142042452
NM_000090.3(COL3A1):c.842C>A (p.Pro281His) rs794728039
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_000090.4(COL3A1):c.*413T>A
NM_000090.4(COL3A1):c.*508T>C
NM_000090.4(COL3A1):c.*600G>T
NM_000090.4(COL3A1):c.*643G>A
NM_000090.4(COL3A1):c.*72A>G
NM_000090.4(COL3A1):c.*740A>T
NM_000090.4(COL3A1):c.*906C>G
NM_000090.4(COL3A1):c.119C>T (p.Ala40Val) rs201380807
NM_000090.4(COL3A1):c.1288G>A (p.Gly430Ser)
NM_000090.4(COL3A1):c.1334C>T (p.Pro445Leu)
NM_000090.4(COL3A1):c.1455+4C>T rs1422454033
NM_000090.4(COL3A1):c.1480G>A (p.Ala494Thr)
NM_000090.4(COL3A1):c.1550C>G (p.Pro517Arg)
NM_000090.4(COL3A1):c.1662+14T>A
NM_000090.4(COL3A1):c.183C>T (p.Leu61=) rs753474870
NM_000090.4(COL3A1):c.1873C>T (p.Pro625Ser)
NM_000090.4(COL3A1):c.1891G>A (p.Asp631Asn)
NM_000090.4(COL3A1):c.1895C>A (p.Thr632Lys)
NM_000090.4(COL3A1):c.193A>G (p.Ile65Val)
NM_000090.4(COL3A1):c.1976C>T (p.Pro659Leu)
NM_000090.4(COL3A1):c.1980T>A (p.Gly660=) rs1553508597
NM_000090.4(COL3A1):c.1999G>T (p.Ala667Ser)
NM_000090.4(COL3A1):c.1A>T (p.Met1Leu)
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.4(COL3A1):c.2108C>T (p.Pro703Leu)
NM_000090.4(COL3A1):c.2461C>A (p.Pro821Thr)
NM_000090.4(COL3A1):c.2605C>A (p.Pro869Thr)
NM_000090.4(COL3A1):c.2623C>T (p.Pro875Ser)
NM_000090.4(COL3A1):c.2678C>T (p.Pro893Leu)
NM_000090.4(COL3A1):c.267A>G (p.Pro89=)
NM_000090.4(COL3A1):c.2749C>T (p.Pro917Ser)
NM_000090.4(COL3A1):c.282+13A>T
NM_000090.4(COL3A1):c.2980C>G (p.Pro994Ala)
NM_000090.4(COL3A1):c.3102T>G (p.Arg1034=)
NM_000090.4(COL3A1):c.3165C>T (p.Val1055=) rs1576471851
NM_000090.4(COL3A1):c.3202-5C>T
NM_000090.4(COL3A1):c.3214C>T (p.Pro1072Ser)
NM_000090.4(COL3A1):c.3260C>T (p.Pro1087Leu)
NM_000090.4(COL3A1):c.3262C>G (p.Gln1088Glu)
NM_000090.4(COL3A1):c.3271C>A (p.Arg1091Ser)
NM_000090.4(COL3A1):c.3298C>T (p.Arg1100Cys)
NM_000090.4(COL3A1):c.3299G>A (p.Arg1100His)
NM_000090.4(COL3A1):c.333+4A>G
NM_000090.4(COL3A1):c.3418-5C>A
NM_000090.4(COL3A1):c.3476C>T (p.Pro1159Leu)
NM_000090.4(COL3A1):c.347T>G (p.Ile116Ser)
NM_000090.4(COL3A1):c.3497G>A (p.Arg1166Gln)
NM_000090.4(COL3A1):c.3523G>A (p.Glu1175Lys)
NM_000090.4(COL3A1):c.3565C>T (p.Pro1189Ser)
NM_000090.4(COL3A1):c.3604G>A (p.Ala1202Thr)
NM_000090.4(COL3A1):c.3732A>G (p.Gln1244=)
NM_000090.4(COL3A1):c.3745A>G (p.Ile1249Val)
NM_000090.4(COL3A1):c.3809C>G (p.Pro1270Arg) rs778419091
NM_000090.4(COL3A1):c.3841C>G (p.Pro1281Ala)
NM_000090.4(COL3A1):c.3868A>C (p.Ile1290Leu)
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000090.4(COL3A1):c.3992C>A (p.Ser1331Tyr)
NM_000090.4(COL3A1):c.4043A>G (p.Asp1348Gly)
NM_000090.4(COL3A1):c.4189G>A (p.Glu1397Lys)
NM_000090.4(COL3A1):c.4224C>G (p.Phe1408Leu)
NM_000090.4(COL3A1):c.4255-1G>T
NM_000090.4(COL3A1):c.4257A>C (p.Lys1419Asn)
NM_000090.4(COL3A1):c.4323dup (p.Val1442fs)
NM_000090.4(COL3A1):c.553C>G (p.Pro185Ala)
NM_000090.4(COL3A1):c.784A>G (p.Met262Val)
NM_000090.4(COL3A1):c.79+2_79+3dup
NM_000090.4(COL3A1):c.902C>G (p.Pro301Arg)
NM_000090.4(COL3A1):c.913C>T (p.Pro305Ser)
NM_000090.4(COL3A1):c.946G>T (p.Ala316Ser) rs958176385
NM_000090.4(COL3A1):c.996A>G (p.Pro332=)

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