ClinVar Miner

List of variants in gene COL3A1 reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 308
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HGVS dbSNP
NC_000002.11:g.(?_189839196)_(189839314_?)dup
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.1028T>C (p.Phe343Ser) rs794728041
NM_000090.3(COL3A1):c.1030C>T (p.Pro344Ser) rs794728042
NM_000090.3(COL3A1):c.1094C>G (p.Pro365Arg) rs1464219199
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.1188C>T (p.Gly396=) rs745743884
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)
NM_000090.3(COL3A1):c.1204G>A (p.Gly402Ser) rs1064797017
NM_000090.3(COL3A1):c.1205_1206delinsAA (p.Gly402Glu) rs794728058
NM_000090.3(COL3A1):c.121G>A (p.Asp41Asn) rs794728035
NM_000090.3(COL3A1):c.1232G>A (p.Gly411Glu) rs886038816
NM_000090.3(COL3A1):c.1235C>T (p.Ala412Val) rs1057519250
NM_000090.3(COL3A1):c.1241G>A (p.Gly414Asp) rs794728044
NM_000090.3(COL3A1):c.1294G>A (p.Gly432Ser) rs794728045
NM_000090.3(COL3A1):c.1297G>A (p.Glu433Lys) rs150670470
NM_000090.3(COL3A1):c.1303G>A (p.Gly435Ser) rs886038952
NM_000090.3(COL3A1):c.1303G>T (p.Gly435Cys) rs886038952
NM_000090.3(COL3A1):c.130G>A (p.Val44Ile) rs79632685
NM_000090.3(COL3A1):c.1336C>T (p.Arg446Cys)
NM_000090.3(COL3A1):c.1337G>A (p.Arg446His) rs149852181
NM_000090.3(COL3A1):c.1338T>A (p.Arg446=) rs1553507953
NM_000090.3(COL3A1):c.1342G>A (p.Glu448Lys) rs1553507955
NM_000090.3(COL3A1):c.1347+6T>C
NM_000090.3(COL3A1):c.1348-4del rs758567906
NM_000090.3(COL3A1):c.1348-4dup rs758567906
NM_000090.3(COL3A1):c.13G>A (p.Val5Met) rs1461198652
NM_000090.3(COL3A1):c.1424C>T (p.Ala475Val) rs770168441
NM_000090.3(COL3A1):c.1435C>T (p.Pro479Ser)
NM_000090.3(COL3A1):c.1450G>A (p.Glu484Lys) rs1559056497
NM_000090.3(COL3A1):c.1459G>T (p.Ala487Ser) rs1553508027
NM_000090.3(COL3A1):c.1472G>A (p.Arg491Gln) rs774551212
NM_000090.3(COL3A1):c.1496T>C (p.Ile499Thr) rs1001748912
NM_000090.3(COL3A1):c.1509+7_1509+21del rs781662866
NM_000090.3(COL3A1):c.1509G>A (p.Lys503=)
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.1531G>A (p.Ala511Thr) rs926106259
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.1586T>C (p.Val529Ala) rs201980471
NM_000090.3(COL3A1):c.1594G>A (p.Gly532Ser)
NM_000090.3(COL3A1):c.1609-17T>G rs1468376126
NM_000090.3(COL3A1):c.1622G>T (p.Ser541Ile) rs794728046
NM_000090.3(COL3A1):c.1642G>A (p.Asp548Asn) rs1293397335
NM_000090.3(COL3A1):c.1657C>T (p.Pro553Ser) rs752163277
NM_000090.3(COL3A1):c.1662C>T (p.Pro554=) rs373963384
NM_000090.3(COL3A1):c.1676A>C (p.Glu559Ala) rs794728047
NM_000090.3(COL3A1):c.1694C>A (p.Pro565His) rs144260440
NM_000090.3(COL3A1):c.1727G>A (p.Gly576Asp) rs886038853
NM_000090.3(COL3A1):c.1758T>C (p.Asn586=) rs756227982
NM_000090.3(COL3A1):c.175T>G (p.Ser59Ala) rs1553506856
NM_000090.3(COL3A1):c.1761+6T>C
NM_000090.3(COL3A1):c.1762-11T>G rs761637298
NM_000090.3(COL3A1):c.1777A>G (p.Asn593Asp) rs1435010100
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)
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.1856C>T (p.Pro619Leu) rs373838193
NM_000090.3(COL3A1):c.1864C>T (p.Pro622Ser) rs772638774
NM_000090.3(COL3A1):c.1869+3A>C
NM_000090.3(COL3A1):c.1869+6T>G rs730880063
NM_000090.3(COL3A1):c.1871G>T (p.Gly624Val) rs1553508463
NM_000090.3(COL3A1):c.1885A>G (p.Lys629Glu)
NM_000090.3(COL3A1):c.1886A>G (p.Lys629Arg) rs1553508467
NM_000090.3(COL3A1):c.1895C>T (p.Thr632Ile)
NM_000090.3(COL3A1):c.1921C>G (p.Gln641Glu) rs794728048
NM_000090.3(COL3A1):c.1924-8C>A rs1553508534
NM_000090.3(COL3A1):c.1924-8_1924-3del rs1553508529
NM_000090.3(COL3A1):c.1972G>A (p.Glu658Lys) rs189846410
NM_000090.3(COL3A1):c.1975C>A (p.Pro659Thr) rs1064796979
NM_000090.3(COL3A1):c.1977+5G>C rs1553508544
NM_000090.3(COL3A1):c.1987G>A (p.Gly663Ser) rs587779433
NM_000090.3(COL3A1):c.198A>G (p.Ile66Met) rs372269408
NM_000090.3(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.3(COL3A1):c.200G>C (p.Cys67Ser) rs1085307576
NM_000090.3(COL3A1):c.2022+4G>A rs886038865
NM_000090.3(COL3A1):c.2022+6A>T rs368117488
NM_000090.3(COL3A1):c.2038C>T (p.Pro680Ser) rs372027308
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.217G>C (p.Asp73His) rs200246388
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.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.2287C>T (p.Pro763Ser) rs771671892
NM_000090.3(COL3A1):c.2351C>A (p.Ala784Asp)
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)
NM_000090.3(COL3A1):c.2445+19A>G
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.2485G>T (p.Ala829Ser) rs755676319
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.2519G>T (p.Gly840Val) rs886038895
NM_000090.3(COL3A1):c.2522T>C (p.Val841Ala)
NM_000090.3(COL3A1):c.2530C>G (p.Pro844Ala) rs780490668
NM_000090.3(COL3A1):c.2550T>C (p.Pro850=) rs794727586
NM_000090.3(COL3A1):c.2553+9C>T rs886042219
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.2668C>T (p.Pro890Ser) rs794728053
NM_000090.3(COL3A1):c.266C>G (p.Pro89Arg) rs139610730
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.2678C>G (p.Pro893Arg) rs1455100373
NM_000090.3(COL3A1):c.2713C>T (p.Pro905Ser) rs112640146
NM_000090.3(COL3A1):c.2714C>T (p.Pro905Leu) rs886055333
NM_000090.3(COL3A1):c.2723C>G (p.Ala908Gly) rs144036995
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.2801C>T (p.Ser934Leu) rs753621331
NM_000090.3(COL3A1):c.2805T>C (p.Pro935=) rs111567071
NM_000090.3(COL3A1):c.2819C>A (p.Pro940Gln) rs1221479337
NM_000090.3(COL3A1):c.2823+5G>C rs1559060755
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.2913T>A (p.Pro971=) rs367872728
NM_000090.3(COL3A1):c.2917C>T (p.Pro973Ser) rs1559060895
NM_000090.3(COL3A1):c.2927T>C (p.Val976Ala) rs886038939
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.2973A>G (p.Glu991=) rs1183070767
NM_000090.3(COL3A1):c.2989C>T (p.Pro997Ser) rs1060500202
NM_000090.3(COL3A1):c.2993A>T (p.Gln998Leu)
NM_000090.3(COL3A1):c.3001C>T (p.Pro1001Ser) rs777180110
NM_000090.3(COL3A1):c.3008T>C (p.Leu1003Pro) rs1553509307
NM_000090.3(COL3A1):c.3019G>A (p.Ala1007Thr) rs201220788
NM_000090.3(COL3A1):c.3035G>A (p.Arg1012Lys) rs865829661
NM_000090.3(COL3A1):c.3044A>G (p.Asn1015Ser) rs1064796863
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.3092A>C (p.Lys1031Thr) rs749725146
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.3117T>C (p.Ser1039=) rs1559061716
NM_000090.3(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210
NM_000090.3(COL3A1):c.3163G>A (p.Val1055Ile) rs747197616
NM_000090.3(COL3A1):c.316G>A (p.Gly106Ser) rs180938313
NM_000090.3(COL3A1):c.3170C>G (p.Pro1057Arg)
NM_000090.3(COL3A1):c.3200G>A (p.Ser1067Asn) rs886039067
NM_000090.3(COL3A1):c.3201+10C>G rs372405344
NM_000090.3(COL3A1):c.3204_3212CCCTGCTGG[3] (p.1069_1071PAG[3]) rs771791598
NM_000090.3(COL3A1):c.3205C>T (p.Pro1069Ser) rs200122671
NM_000090.3(COL3A1):c.3208G>T (p.Ala1070Ser) rs376738516
NM_000090.3(COL3A1):c.320C>G (p.Pro107Arg) rs1559052813
NM_000090.3(COL3A1):c.3217G>A (p.Ala1073Thr) rs1553509489
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.3307G>C (p.Ala1103Pro) rs374548570
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.333+15T>C rs764678861
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.3462T>G (p.Ser1154Arg) rs769100283
NM_000090.3(COL3A1):c.3466C>T (p.His1156Tyr)
NM_000090.3(COL3A1):c.3474_3491dup (p.Ile1160_Pro1165dup)
NM_000090.3(COL3A1):c.349C>A (p.Pro117Thr)
NM_000090.3(COL3A1):c.3515G>C (p.Arg1172Thr) rs1553509668
NM_000090.3(COL3A1):c.3525+3A>C rs1553509674
NM_000090.3(COL3A1):c.3526-10C>T rs376171095
NM_000090.3(COL3A1):c.3532C>T (p.Pro1178Ser) rs759565407
NM_000090.3(COL3A1):c.3566C>T (p.Pro1189Leu) rs752598062
NM_000090.3(COL3A1):c.3574G>A (p.Ala1192Thr)
NM_000090.3(COL3A1):c.3576C>T (p.Ala1192=) rs574331101
NM_000090.3(COL3A1):c.3593G>A (p.Gly1198Asp)
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.3755A>T (p.Asp1252Val) rs869025372
NM_000090.3(COL3A1):c.3757G>A (p.Gly1253Ser) rs1447586307
NM_000090.3(COL3A1):c.3764G>A (p.Arg1255His) rs368119434
NM_000090.3(COL3A1):c.3775G>A (p.Ala1259Thr) rs776478974
NM_000090.3(COL3A1):c.3793C>A (p.Leu1265Met) rs200052168
NM_000090.3(COL3A1):c.3796A>C (p.Lys1266Gln)
NM_000090.3(COL3A1):c.3806A>G (p.His1269Arg) rs751092650
NM_000090.3(COL3A1):c.3808C>A (p.Pro1270Thr)
NM_000090.3(COL3A1):c.3818A>G (p.Lys1273Arg) rs144614075
NM_000090.3(COL3A1):c.3824-14T>G rs762561768
NM_000090.3(COL3A1):c.3824-8C>T
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.3934C>T (p.Arg1312Trp) rs794728056
NM_000090.3(COL3A1):c.3935G>A (p.Arg1312Gln) rs772919524
NM_000090.3(COL3A1):c.3937A>C (p.Lys1313Gln) rs886038983
NM_000090.3(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000090.3(COL3A1):c.3983T>G (p.Phe1328Cys) rs1553509872
NM_000090.3(COL3A1):c.3998A>G (p.Asp1333Gly) rs376651720
NM_000090.3(COL3A1):c.4003G>A (p.Gly1335Ser) rs751807135
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.4073G>A (p.Arg1358Gln) rs745656610
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.4088G>C (p.Arg1363Pro) rs1227282800
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.4184C>T (p.Ser1395Leu) rs1131691707
NM_000090.3(COL3A1):c.419T>C (p.Ile140Thr) rs750849196
NM_000090.3(COL3A1):c.4220A>C (p.Lys1407Thr) rs747651283
NM_000090.3(COL3A1):c.4229A>C (p.Tyr1410Ser) rs1559063838
NM_000090.3(COL3A1):c.4254+3A>G rs376799861
NM_000090.3(COL3A1):c.4257A>G (p.Lys1419=)
NM_000090.3(COL3A1):c.4276A>G (p.Lys1426Glu) rs908421014
NM_000090.3(COL3A1):c.4295G>T (p.Arg1432Leu) rs772428340
NM_000090.3(COL3A1):c.4300C>T (p.Arg1434Cys) rs747324731
NM_000090.3(COL3A1):c.4301G>A (p.Arg1434His)
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.4357G>A (p.Asp1453Asn) rs1131691353
NM_000090.3(COL3A1):c.4358A>T (p.Asp1453Val) rs1049427570
NM_000090.3(COL3A1):c.4360C>T (p.Gln1454Ter)
NM_000090.3(COL3A1):c.4378G>A (p.Val1460Ile) rs561556753
NM_000090.3(COL3A1):c.4382G>T (p.Gly1461Val)
NM_000090.3(COL3A1):c.4394T>G (p.Phe1465Cys) rs1553510018
NM_000090.3(COL3A1):c.448-6C>A rs751856761
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.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.529-5T>G rs886055329
NM_000090.3(COL3A1):c.52C>T (p.Pro18Ser) rs886038951
NM_000090.3(COL3A1):c.546C>A (p.Pro182=)
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.583-7T>C rs886055330
NM_000090.3(COL3A1):c.586T>C (p.Ser196Pro) rs751350498
NM_000090.3(COL3A1):c.624A>G (p.Gln208=)
NM_000090.3(COL3A1):c.645A>C (p.Pro215=) rs1000777138
NM_000090.3(COL3A1):c.667C>G (p.Pro223Ala) rs1325737333
NM_000090.3(COL3A1):c.674G>C (p.Gly225Ala) rs587779533
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.713G>A (p.Arg238Gln) rs760324242
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.803T>C (p.Phe268Ser) rs1318892403
NM_000090.3(COL3A1):c.838G>A (p.Ala280Thr)
NM_000090.3(COL3A1):c.86_88del (p.Glu29del) rs1559052566
NM_000090.3(COL3A1):c.873C>T (p.Gly291=) rs138569287
NM_000090.3(COL3A1):c.877A>G (p.Asn293Asp) rs1131691328
NM_000090.3(COL3A1):c.879T>A (p.Asn293Lys)
NM_000090.3(COL3A1):c.897+4A>G rs886039191
NM_000090.3(COL3A1):c.898-14A>G rs763316592
NM_000090.3(COL3A1):c.898-5T>C rs535434618
NM_000090.3(COL3A1):c.902C>T (p.Pro301Leu) rs1273313377
NM_000090.3(COL3A1):c.91G>C (p.Gly31Arg) rs374537884
NM_000090.3(COL3A1):c.989G>A (p.Gly330Asp) rs1559055303

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