ClinVar Miner

List of variants in gene COL3A1 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 474
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HGVS dbSNP
NC_000002.11:g.(?_189839196)_(189839314_?)dup
NC_000002.11:g.(?_189852807)_(189855783_?)dup
NM_000090.3(COL3A1):c.101A>G (p.His34Arg) rs752110396
NM_000090.3(COL3A1):c.1024G>A (p.Gly342Arg) rs794728040
NM_000090.3(COL3A1):c.1050+6C>T rs528634384
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.114C>G (p.Ser38=) rs141241764
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.1188C>T (p.Gly396=) rs745743884
NM_000090.3(COL3A1):c.1194+9T>C rs1244921213
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.1201G>A (p.Ala401Thr) rs373858715
NM_000090.3(COL3A1):c.120G>A (p.Ala40=) rs138115610
NM_000090.3(COL3A1):c.121G>A (p.Asp41Asn) rs794728035
NM_000090.3(COL3A1):c.1231G>C (p.Gly411Arg) rs587779534
NM_000090.3(COL3A1):c.1234G>T (p.Ala412Ser) rs768314657
NM_000090.3(COL3A1):c.1241G>T (p.Gly414Val) rs794728044
NM_000090.3(COL3A1):c.1257C>T (p.Ala419=) rs41272837
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.130G>A (p.Val44Ile) rs79632685
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) rs1238066761
NM_000090.3(COL3A1):c.1337G>A (p.Arg446His) rs149852181
NM_000090.3(COL3A1):c.1347+1G>A (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+) rs397509370
NM_000090.3(COL3A1):c.1347+6T>C rs373343032
NM_000090.3(COL3A1):c.134G>A (p.Trp45Ter) rs1559052609
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.1476A>C (p.Gly492=) rs111683983
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+5A>G rs572863064
NM_000090.3(COL3A1):c.1509+7A>C rs201740954
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.1550C>T (p.Pro517Leu) rs142085247
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.1617C>T (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.1659T>A (p.Pro553=) rs41263751
NM_000090.3(COL3A1):c.1662+1G>A (p.Gly537_Pro554del) rs587779535
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.1701G>A (p.Gly567=) rs765802289
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.1744G>A (p.Gly582Ser) rs121912923
NM_000090.3(COL3A1):c.1761+6T>C rs189483688
NM_000090.3(COL3A1):c.1763G>A (p.Gly588Asp) rs587779691
NM_000090.3(COL3A1):c.1770T>C (p.Pro590=) rs80302667
NM_000090.3(COL3A1):c.1786C>T (p.Arg596Ter) rs587779527
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>A (p.Pro602Thr) rs35795890
NM_000090.3(COL3A1):c.1804C>G (p.Pro602Ala) rs35795890
NM_000090.3(COL3A1):c.1808G>A (p.Gly603Asp) rs587779477
NM_000090.3(COL3A1):c.1813C>G (p.Gln605Glu) rs764299277
NM_000090.3(COL3A1):c.1815+5G>A rs146652498
NM_000090.3(COL3A1):c.1820C>T (p.Pro607Leu) rs1039226542
NM_000090.3(COL3A1):c.1844G>A (p.Gly615Glu) rs587779634
NM_000090.3(COL3A1):c.1851_1855delinsAG (p.Gly618_Pro619delinsAla) rs1576467133
NM_000090.3(COL3A1):c.1854A>T (p.Gly618=) rs370034518
NM_000090.3(COL3A1):c.1856C>T (p.Pro619Leu) rs373838193
NM_000090.3(COL3A1):c.1869+1G>C (p.Gly606_Thr623del) rs587779600
NM_000090.3(COL3A1):c.1869+3A>C rs1576467168
NM_000090.3(COL3A1):c.1869+5G>T (p.Gly606_Thr623del) rs397509376
NM_000090.3(COL3A1):c.1869+6T>G rs730880063
NM_000090.3(COL3A1):c.186C>T (p.Cys62=) rs764749176
NM_000090.3(COL3A1):c.1870-9C>T rs777339506
NM_000090.3(COL3A1):c.1885A>G (p.Lys629Glu) rs1466862530
NM_000090.3(COL3A1):c.1895C>T (p.Thr632Ile) rs769039976
NM_000090.3(COL3A1):c.1924-4C>T rs755814664
NM_000090.3(COL3A1):c.1927T>C (p.Leu643=) rs41263757
NM_000090.3(COL3A1):c.1972G>A (p.Glu658Lys) rs189846410
NM_000090.3(COL3A1):c.1977+10G>A rs768976215
NM_000090.3(COL3A1):c.1977+5G>C rs1553508544
NM_000090.3(COL3A1):c.1977+9C>T rs184223621
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.1995C>T (p.Ala665=) rs149093989
NM_000090.3(COL3A1):c.1996G>A (p.Gly666Ser) rs755528878
NM_000090.3(COL3A1):c.1997G>A (p.Gly666Asp) rs121912921
NM_000090.3(COL3A1):c.2002C>T (p.Pro668Ser) rs1801183
NM_000090.3(COL3A1):c.2022+2T>C (p.Gly660_Lys674del) rs587779429
NM_000090.3(COL3A1):c.2022+5T>C rs41263765
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.2042G>A (p.Gly681Asp) rs1173194734
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) rs587779587
NM_000090.3(COL3A1):c.2056C>G (p.Pro686Ala) rs41263775
NM_000090.3(COL3A1):c.2067_2072del (p.Gly690_Ala691del) rs1576468160
NM_000090.3(COL3A1):c.2074C>A (p.Pro692Thr) rs1160258883
NM_000090.3(COL3A1):c.2078G>C (p.Gly693Ala) rs587779442
NM_000090.3(COL3A1):c.2107C>T (p.Pro703Ser) rs780123051
NM_000090.3(COL3A1):c.2109C>T (p.Pro703=) rs746947080
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) rs1576468332
NM_000090.3(COL3A1):c.2168G>A (p.Gly723Asp) rs587779581
NM_000090.3(COL3A1):c.217G>C (p.Asp73His) rs200246388
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.219C>T (p.Asp73=) rs886038228
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 rs1576468385
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.2274T>C (p.Asp758=) rs1060503872
NM_000090.3(COL3A1):c.2283+1G>A rs1559058970
NM_000090.3(COL3A1):c.2287C>T (p.Pro763Ser) rs771671892
NM_000090.3(COL3A1):c.2294G>T (p.Gly765Val) rs587779492
NM_000090.3(COL3A1):c.2312G>A (p.Gly771Asp) rs1060500193
NM_000090.3(COL3A1):c.2337+7C>A rs1060503874
NM_000090.3(COL3A1):c.2351C>A (p.Ala784Asp) rs370292679
NM_000090.3(COL3A1):c.2355C>G (p.Pro785=) rs148901664
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.2392-3_2395del rs1559059873
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.2445T>G (p.Pro815=) rs199727625
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.2490G>C (p.Pro830=) rs777361888
NM_000090.3(COL3A1):c.2493T>C (p.Gly831=) rs551541918
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.2550T>C (p.Pro850=) rs794727586
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.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.2700C>T (p.Gly900=) rs112164939
NM_000090.3(COL3A1):c.2709G>A (p.Gly903=) rs1057524521
NM_000090.3(COL3A1):c.2712C>T (p.Pro904=) rs375673185
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.2773G>A (p.Asp925Asn) rs929526823
NM_000090.3(COL3A1):c.2791G>A (p.Glu931Lys) rs1553509193
NM_000090.3(COL3A1):c.2802G>A (p.Ser934=) rs113870310
NM_000090.3(COL3A1):c.2805T>C (p.Pro935=) rs111567071
NM_000090.3(COL3A1):c.2815G>T (p.Gly939Cys) rs587779550
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.2833G>A (p.Gly945Ser) rs587779567
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.2887G>C (p.Gly963Arg) rs587779640
NM_000090.3(COL3A1):c.289C>G (p.Arg97Gly) rs768671254
NM_000090.3(COL3A1):c.2904G>A (p.Arg968=) rs780866547
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.2913T>G (p.Pro971=) rs367872728
NM_000090.3(COL3A1):c.2927T>C (p.Val976Ala) rs886038939
NM_000090.3(COL3A1):c.2931+8T>C rs949146538
NM_000090.3(COL3A1):c.2958C>T (p.Asn986=) rs41264441
NM_000090.3(COL3A1):c.2959G>A (p.Gly987Ser) rs587779583
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.3019G>A (p.Ala1007Thr) rs201220788
NM_000090.3(COL3A1):c.3040G>A (p.Gly1014Arg) rs1553509391
NM_000090.3(COL3A1):c.3061C>A (p.Leu1021Ile) rs139619440
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.3132C>T (p.Gly1044=) rs369992399
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.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.3222T>G (p.Gly1074=) rs1060503873
NM_000090.3(COL3A1):c.3228C>T (p.Pro1076=) rs200917999
NM_000090.3(COL3A1):c.3245G>A (p.Arg1082Gln) rs367754862
NM_000090.3(COL3A1):c.3255+1G>C rs587779480
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) rs587779672
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.3336T>C (p.Pro1112=) rs749357239
NM_000090.3(COL3A1):c.3345A>G (p.Pro1115=) rs1045040851
NM_000090.3(COL3A1):c.3364-8C>T rs779073034
NM_000090.3(COL3A1):c.3375T>C (p.Gly1125=) rs1355734194
NM_000090.3(COL3A1):c.3390C>T (p.Ile1130=) rs148918486
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.3440_3466del (p.Pro1147_Gly1155del) rs1576472890
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.3482G>A (p.Gly1161Glu) rs587779473
NM_000090.3(COL3A1):c.3491G>A (p.Gly1164Glu) rs587779431
NM_000090.3(COL3A1):c.349C>A (p.Pro117Thr) rs1559052973
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.3526-10C>T rs376171095
NM_000090.3(COL3A1):c.3537C>A (p.Gly1179=) rs146837092
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.3581G>A (p.Gly1194Asp) rs1553509744
NM_000090.3(COL3A1):c.3593G>A (p.Gly1198Asp) rs756858564
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.3642C>A (p.Gly1214=) rs184402915
NM_000090.3(COL3A1):c.3653C>T (p.Pro1218Leu) rs763901831
NM_000090.3(COL3A1):c.3654G>T (p.Pro1218=) rs35759441
NM_000090.3(COL3A1):c.3694G>A (p.Asp1232Asn) rs147663769
NM_000090.3(COL3A1):c.3774C>T (p.Pro1258=) rs149790711
NM_000090.3(COL3A1):c.3775G>A (p.Ala1259Thr) rs776478974
NM_000090.3(COL3A1):c.3776C>T (p.Ala1259Val) rs148387626
NM_000090.3(COL3A1):c.3777T>C (p.Ala1259=) rs34781844
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.3823+1G>T rs1576473641
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.3966G>A (p.Glu1322=) rs560861999
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.4021G>A (p.Gly1341Ser) rs140646380
NM_000090.3(COL3A1):c.4038T>C (p.Pro1346=) rs113753099
NM_000090.3(COL3A1):c.4059G>T (p.Gln1353His) rs1516446
NM_000090.3(COL3A1):c.4075C>A (p.Leu1359Ile) rs1400489265
NM_000090.3(COL3A1):c.4086C>T (p.Ser1362=) rs779774302
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=) rs754723643
NM_000090.3(COL3A1):c.4294C>T (p.Arg1432Ter) rs587779585
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.432C>T (p.Cys144=) rs539430522
NM_000090.3(COL3A1):c.4332T>C (p.Ile1444=) rs1285255181
NM_000090.3(COL3A1):c.4338C>T (p.Pro1446=) rs376207711
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.435T>A (p.Pro145=) rs1060503875
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.508G>A (p.Ala170Thr) rs374476865
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.546C>T (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) rs1300339107
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.583-8C>T rs10166835
NM_000090.3(COL3A1):c.583G>A (p.Gly195Arg)
NM_000090.3(COL3A1):c.593G>A (p.Gly198Glu) rs587779641
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=) rs527415370
NM_000090.3(COL3A1):c.636+5G>A (p.Gly195_Ser212del) rs587779688
NM_000090.3(COL3A1):c.667C>G (p.Pro223Ala) rs1325737333
NM_000090.3(COL3A1):c.691-2A>G rs1576463100
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.721G>A (p.Glu241Lys) rs1553507432
NM_000090.3(COL3A1):c.752A>G (p.Lys251Arg) rs151148197
NM_000090.3(COL3A1):c.792A>G (p.Gly264=) rs113304344
NM_000090.3(COL3A1):c.799-6del rs767927599
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.812G>A (p.Arg271Gln) rs112185887
NM_000090.3(COL3A1):c.81del (p.Val28fs) rs1060500200
NM_000090.3(COL3A1):c.826G>A (p.Gly276Ser) rs1576463632
NM_000090.3(COL3A1):c.827G>T (p.Gly276Val) rs587779644
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.845G>T (p.Gly282Val) rs1576463663
NM_000090.3(COL3A1):c.852+2T>C rs201314784
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.889G>A (p.Gly297Arg) rs1553507557
NM_000090.3(COL3A1):c.898-14A>G rs763316592
NM_000090.3(COL3A1):c.898-5T>C rs535434618
NM_000090.3(COL3A1):c.91G>C (p.Gly31Arg) rs374537884
NM_000090.3(COL3A1):c.926G>A (p.Gly309Glu) rs113871730
NM_000090.3(COL3A1):c.937_938dup (p.Pro314fs) rs772827388
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.970G>A (p.Gly324Ser) rs587779650
NM_000090.3(COL3A1):c.976C>T (p.Arg326Ter) rs587779607
NM_000090.3(COL3A1):c.996+10T>A rs369957068
NM_000090.4(COL3A1):c.1133G>A (p.Gly378Asp)
NM_000090.4(COL3A1):c.119C>T (p.Ala40Val) rs201380807
NM_000090.4(COL3A1):c.1239G>A (p.Arg413=) rs769162177
NM_000090.4(COL3A1):c.1249G>C (p.Gly417Arg)
NM_000090.4(COL3A1):c.1288G>A (p.Gly430Ser)
NM_000090.4(COL3A1):c.1294-8T>C rs1226243055
NM_000090.4(COL3A1):c.1295G>A (p.Gly432Asp)
NM_000090.4(COL3A1):c.1442del (p.Ala481fs)
NM_000090.4(COL3A1):c.1473A>C (p.Arg491=) rs759650260
NM_000090.4(COL3A1):c.1480G>A (p.Ala494Thr)
NM_000090.4(COL3A1):c.1550C>G (p.Pro517Arg)
NM_000090.4(COL3A1):c.1654G>A (p.Gly552Arg)
NM_000090.4(COL3A1):c.1707T>C (p.Ser569=) rs141542949
NM_000090.4(COL3A1):c.1745G>A (p.Gly582Asp)
NM_000090.4(COL3A1):c.1763G>T (p.Gly588Val)
NM_000090.4(COL3A1):c.1815+4C>T rs757154607
NM_000090.4(COL3A1):c.1816-4T>C rs765128089
NM_000090.4(COL3A1):c.183C>T (p.Leu61=) rs753474870
NM_000090.4(COL3A1):c.1860A>G (p.Pro620=) rs141128796
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.1978G>A (p.Gly660Ser)
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.2240G>A (p.Gly747Asp)
NM_000090.4(COL3A1):c.2248G>C (p.Gly750Arg)
NM_000090.4(COL3A1):c.2265A>G (p.Pro755=) rs1576468557
NM_000090.4(COL3A1):c.2267G>A (p.Gly756Glu) rs1576468562
NM_000090.4(COL3A1):c.2358A>G (p.Gly786=) rs1207914999
NM_000090.4(COL3A1):c.2511C>A (p.Gly837=) rs1157152697
NM_000090.4(COL3A1):c.2553+7T>C rs951182466
NM_000090.4(COL3A1):c.2605C>A (p.Pro869Thr)
NM_000090.4(COL3A1):c.2608-10C>T rs1217009146
NM_000090.4(COL3A1):c.2623C>T (p.Pro875Ser)
NM_000090.4(COL3A1):c.2678C>T (p.Pro893Leu)
NM_000090.4(COL3A1):c.2688C>T (p.Ser896=) rs112723105
NM_000090.4(COL3A1):c.2690G>A (p.Gly897Asp)
NM_000090.4(COL3A1):c.2726G>A (p.Gly909Asp)
NM_000090.4(COL3A1):c.2766A>G (p.Pro922=) rs915948354
NM_000090.4(COL3A1):c.2797G>A (p.Gly933Arg)
NM_000090.4(COL3A1):c.2823+1G>T
NM_000090.4(COL3A1):c.2838A>T (p.Pro946=) rs1576470760
NM_000090.4(COL3A1):c.2841T>C (p.Leu947=) rs1576470766
NM_000090.4(COL3A1):c.2888G>T (p.Gly963Val)
NM_000090.4(COL3A1):c.289C>T (p.Arg97Cys) rs768671254
NM_000090.4(COL3A1):c.2931+9A>T rs752325298
NM_000090.4(COL3A1):c.2932G>A (p.Gly978Ser)
NM_000090.4(COL3A1):c.2980C>G (p.Pro994Ala)
NM_000090.4(COL3A1):c.3040-6A>G rs1576471662
NM_000090.4(COL3A1):c.3102T>C (p.Arg1034=) rs1399453028
NM_000090.4(COL3A1):c.3121G>C (p.Gly1041Arg)
NM_000090.4(COL3A1):c.3126C>T (p.Ala1042=) rs1576471813
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210
NM_000090.4(COL3A1):c.3165C>T (p.Val1055=) rs1576471851
NM_000090.4(COL3A1):c.3214C>T (p.Pro1072Ser)
NM_000090.4(COL3A1):c.3256-1G>A
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.3299G>A (p.Arg1100His)
NM_000090.4(COL3A1):c.333+4A>G
NM_000090.4(COL3A1):c.334-2A>G
NM_000090.4(COL3A1):c.3363+9A>G rs1286958692
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.3522T>A (p.Ser1174=) rs1576472993
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.3613A>G (p.Ile1205Val) rs2271683
NM_000090.4(COL3A1):c.3672A>G (p.Pro1224=) rs1204937173
NM_000090.4(COL3A1):c.3732A>G (p.Gln1244=)
NM_000090.4(COL3A1):c.3737_3740del (p.Glu1246fs)
NM_000090.4(COL3A1):c.3745A>G (p.Ile1249Val)
NM_000090.4(COL3A1):c.3819G>A (p.Lys1273=) rs1219896056
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.3993C>T (p.Ser1331=) rs750815694
NM_000090.4(COL3A1):c.4026T>C (p.Asn1342=) rs147250987
NM_000090.4(COL3A1):c.4043A>G (p.Asp1348Gly)
NM_000090.4(COL3A1):c.405T>C (p.Pro135=) rs777238997
NM_000090.4(COL3A1):c.4176G>A (p.Leu1392=) rs758221289
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.4284C>A (p.Val1428=) rs746436515
NM_000090.4(COL3A1):c.4323dup (p.Val1442fs)
NM_000090.4(COL3A1):c.4368T>A (p.Phe1456Leu)
NM_000090.4(COL3A1):c.4386T>C (p.Pro1462=) rs1576474951
NM_000090.4(COL3A1):c.448-1G>T
NM_000090.4(COL3A1):c.528+9A>T rs746532251
NM_000090.4(COL3A1):c.553C>G (p.Pro185Ala)
NM_000090.4(COL3A1):c.669A>T (p.Pro223=) rs1034042392
NM_000090.4(COL3A1):c.690+9T>C rs370451250
NM_000090.4(COL3A1):c.708C>T (p.Pro236=) rs775390389
NM_000090.4(COL3A1):c.754G>T (p.Gly252Cys) rs587779705
NM_000090.4(COL3A1):c.759A>G (p.Pro253=) rs376198106
NM_000090.4(COL3A1):c.784A>G (p.Met262Val)
NM_000090.4(COL3A1):c.79+2_79+3dup
NM_000090.4(COL3A1):c.80-8T>C rs1241543816
NM_000090.4(COL3A1):c.840T>A (p.Ala280=) rs1576463659
NM_000090.4(COL3A1):c.84T>C (p.Val28=) rs752574994
NM_000090.4(COL3A1):c.853-7T>C rs377063305
NM_000090.4(COL3A1):c.891A>C (p.Gly297=) rs751603655
NM_000090.4(COL3A1):c.897+10T>C rs375595216
NM_000090.4(COL3A1):c.898-8C>T rs766564882
NM_000090.4(COL3A1):c.902C>G (p.Pro301Arg)
NM_000090.4(COL3A1):c.913C>T (p.Pro305Ser)
NM_000090.4(COL3A1):c.945G>A (p.Gly315=) rs372206736
NM_000090.4(COL3A1):c.946G>T (p.Ala316Ser) rs958176385
NM_000090.4(COL3A1):c.952-6T>C rs1576464133
NM_000090.4(COL3A1):c.996A>G (p.Pro332=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.