ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome type 7A

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 301
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HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.-247T>G rs71483234 0.99656
NM_000093.5(COL5A1):c.*2395G>T rs4504708 0.76943
NM_000093.5(COL5A1):c.*83C>T rs13946 0.76018
NM_000093.5(COL5A1):c.*1125A>T rs1134170 0.66610
NM_000093.5(COL5A1):c.*2501T>C rs3128575 0.63348
NM_000093.5(COL5A1):c.1432-5T>C rs3128612 0.57159
NM_000093.5(COL5A1):c.2952+11A>T rs4240707 0.51337
NM_000093.5(COL5A1):c.*267C>T rs12722 0.43648
NM_000093.5(COL5A1):c.738C>T (p.Thr246=) rs3124299 0.34823
NM_000093.5(COL5A1):c.4176+9T>G rs10858282 0.31743
NM_000093.5(COL5A1):c.*894T>C rs11103544 0.20603
NM_000093.5(COL5A1):c.4122G>A (p.Thr1374=) rs3827848 0.14130
NM_000393.5(COL5A2):c.852+14C>T rs56310996 0.14063
NM_000393.5(COL5A2):c.568-10G>A rs58106884 0.13056
NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=) rs10197596 0.09320
NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=) rs10208525 0.09281
NM_000393.5(COL5A2):c.*1402T>G rs11186 0.09269
NM_000093.5(COL5A1):c.1092C>T (p.Pro364=) rs41306391 0.08110
NM_000093.5(COL5A1):c.1569+15C>T rs62574081 0.07860
NM_000393.5(COL5A2):c.*392T>C rs1131518 0.07495
NM_000393.5(COL5A2):c.*298G>A rs7586 0.07221
NM_000093.5(COL5A1):c.*311C>T rs1134114 0.06809
NM_000093.5(COL5A1):c.1431G>A (p.Ala477=) rs61729545 0.06122
NM_000393.5(COL5A2):c.*639G>A rs73981487 0.05878
NM_000093.5(COL5A1):c.*1443G>A rs10895 0.05700
NM_000393.5(COL5A2):c.*1165G>A rs13914 0.04890
NM_000093.5(COL5A1):c.2745+15A>T rs79481146 0.04340
NM_000093.5(COL5A1):c.4560C>T (p.Ile1520=) rs2228559 0.03652
NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser) rs35830636 0.03364
NM_000093.5(COL5A1):c.2892C>T (p.Gly964=) rs78511105 0.03168
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045 0.03116
NM_000093.5(COL5A1):c.4230+6G>A rs77176843 0.02700
NM_000093.5(COL5A1):c.*1562A>G rs116561240 0.02592
NM_000093.5(COL5A1):c.4393-9C>T rs11792181 0.02555
NM_000093.5(COL5A1):c.2724G>A (p.Pro908=) rs41310207 0.02534
NM_000093.5(COL5A1):c.1935+8T>G rs79195626 0.02373
NM_000093.5(COL5A1):c.*1642G>A rs116053626 0.02360
NM_000093.5(COL5A1):c.*1922G>A rs74979726 0.02332
NM_000093.5(COL5A1):c.574G>A (p.Asp192Asn) rs138579182 0.02227
NM_000093.5(COL5A1):c.*724C>T rs116156416 0.02219
NM_000393.5(COL5A2):c.*2131T>A rs113513554 0.02206
NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala) rs35852101 0.01792
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu) rs76148000 0.01714
NM_000393.5(COL5A2):c.4449C>T (p.Gly1483=) rs78905646 0.01586
NM_000093.5(COL5A1):c.*1637C>A rs148823980 0.01576
NM_000393.5(COL5A2):c.*1400A>G rs12886 0.01556
NM_000393.5(COL5A2):c.1006-9C>T rs73978832 0.01552
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu) rs116298748 0.01542
NM_000093.5(COL5A1):c.*1806C>T rs11556648 0.01480
NM_000093.5(COL5A1):c.5068-7T>C rs113256540 0.01472
NM_000093.5(COL5A1):c.*660G>A rs73664168 0.01440
NM_000393.5(COL5A2):c.*1669G>A rs76151083 0.01378
NM_000393.5(COL5A2):c.*2062G>A rs77821675 0.01359
NM_000393.5(COL5A2):c.*1904C>T rs75096234 0.01358
NM_000393.5(COL5A2):c.*423C>T rs77413180 0.01358
NM_000393.5(COL5A2):c.*1960A>G rs76482660 0.01355
NM_000393.5(COL5A2):c.*1379A>G rs114330868 0.01303
NM_000093.5(COL5A1):c.2799+4T>C rs75815945 0.01279
NM_000393.5(COL5A2):c.*515C>T rs113311693 0.01221
NM_000393.5(COL5A2):c.*46C>A rs112739705 0.01217
NM_000393.5(COL5A2):c.98-12T>G rs117917418 0.01199
NM_000093.5(COL5A1):c.5190C>T (p.Phe1730=) rs61729481 0.01170
NM_000393.5(COL5A2):c.1400C>T (p.Pro467Leu) rs115570272 0.01007
NM_000093.5(COL5A1):c.2852A>G (p.Asn951Ser) rs61736966 0.00972
NM_000093.5(COL5A1):c.4699-6C>T rs113090154 0.00923
NM_000093.5(COL5A1):c.*629A>G rs150345666 0.00897
NM_000093.5(COL5A1):c.-110A>G rs180741151 0.00852
NM_000393.5(COL5A2):c.-34C>T rs114102476 0.00807
NM_000093.5(COL5A1):c.5151C>T (p.Asp1717=) rs61729558 0.00781
NM_000393.5(COL5A2):c.1104+15T>C rs75486409 0.00772
NM_000393.5(COL5A2):c.975C>T (p.Pro325=) rs144344474 0.00770
NM_000093.5(COL5A1):c.787-15G>A rs150200872 0.00704
NM_000393.5(COL5A2):c.2554-14A>G rs142429770 0.00703
NM_000093.5(COL5A1):c.1566G>A (p.Leu522=) rs61737941 0.00682
NM_000093.5(COL5A1):c.*283G>A rs114171895 0.00635
NM_000093.5(COL5A1):c.1062C>T (p.Asp354=) rs61737708 0.00634
NM_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195 0.00598
NM_000093.5(COL5A1):c.*14C>T rs12553247 0.00580
NM_000393.5(COL5A2):c.*798A>G rs116775405 0.00567
NM_000093.5(COL5A1):c.*269C>T rs372857096 0.00557
NM_000093.5(COL5A1):c.4231-12G>A rs188473199 0.00543
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175 0.00525
NM_000093.5(COL5A1):c.-37G>A rs374979485 0.00508
NM_000093.5(COL5A1):c.*190G>A rs55748801 0.00500
NM_000093.5(COL5A1):c.5137-12C>T rs191758714 0.00488
NM_000393.5(COL5A2):c.*391A>G rs143552248 0.00486
NM_000393.5(COL5A2):c.*1852T>C rs116255986 0.00479
NM_000093.5(COL5A1):c.-382C>G rs555826102 0.00465
NM_000393.5(COL5A2):c.*1076G>A rs114123906 0.00382
NM_000093.5(COL5A1):c.1333-8A>G rs145620416 0.00360
NM_000093.5(COL5A1):c.5270C>T (p.Thr1757Met) rs2229817 0.00346
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val) rs41306397 0.00315
NM_000093.5(COL5A1):c.573C>T (p.Leu191=) rs116715381 0.00312
NM_000393.5(COL5A2):c.198T>C (p.Asn66=) rs76511879 0.00306
NM_000093.5(COL5A1):c.240C>T (p.Asp80=) rs79724538 0.00288
NM_000093.5(COL5A1):c.2058G>A (p.Pro686=) rs143443499 0.00283
NM_000393.5(COL5A2):c.2032-7G>A rs141571092 0.00265
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=) rs41310953 0.00253
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=) rs148430780 0.00245
NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=) rs146100075 0.00235
NM_000093.5(COL5A1):c.*58C>T rs56259444 0.00207
NM_000393.5(COL5A2):c.1454C>A (p.Pro485Gln) rs145281966 0.00199
NM_000093.5(COL5A1):c.1158C>T (p.Ser386=) rs61729497 0.00194
NM_000093.5(COL5A1):c.378G>T (p.Gln126His) rs145178917 0.00192
NM_000393.5(COL5A2):c.-50C>T rs183260194 0.00192
NM_000093.5(COL5A1):c.4230+5C>T rs142248898 0.00182
NM_000093.5(COL5A1):c.4065C>T (p.Pro1355=) rs61737906 0.00164
NM_000093.5(COL5A1):c.*2429T>C rs56031840 0.00148
NM_000393.5(COL5A2):c.33C>T (p.Leu11=) rs140108893 0.00130
NM_000093.5(COL5A1):c.1077G>A (p.Glu359=) rs201166370 0.00124
NM_000093.5(COL5A1):c.193C>T (p.Arg65Trp) rs139468527 0.00124
NM_000393.5(COL5A2):c.3316C>T (p.Arg1106Trp) rs146789395 0.00119
NM_000393.5(COL5A2):c.1035G>C (p.Gly345=) rs148786600 0.00118
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met) rs145850743 0.00118
NM_000393.5(COL5A2):c.261G>A (p.Thr87=) rs142044596 0.00108
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=) rs61736827 0.00106
NM_000093.5(COL5A1):c.924+13C>T rs199836060 0.00106
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser) rs548525119 0.00094
NM_000093.5(COL5A1):c.*1343A>G rs77145856 0.00088
NM_000393.5(COL5A2):c.4173C>G (p.Arg1391=) rs148590409 0.00087
NM_000093.5(COL5A1):c.4795G>C (p.Glu1599Gln) rs149212775 0.00083
NM_000393.5(COL5A2):c.*848T>C rs72902303 0.00076
NM_000393.5(COL5A2):c.3098C>T (p.Pro1033Leu) rs75542756 0.00076
NM_000393.5(COL5A2):c.2787G>A (p.Ala929=) rs151027388 0.00069
NM_000093.5(COL5A1):c.252C>T (p.Ser84=) rs151293601 0.00066
NM_000093.5(COL5A1):c.-364G>C rs780212970 0.00064
NM_000093.5(COL5A1):c.2031G>A (p.Glu677=) rs61737719 0.00062
NM_000393.5(COL5A2):c.3471+8A>T rs367643805 0.00061
NM_000093.5(COL5A1):c.996C>T (p.Asp332=) rs144763302 0.00058
NM_000093.5(COL5A1):c.*2485G>A rs146334187 0.00057
NM_000093.5(COL5A1):c.2096C>T (p.Thr699Met) rs142313124 0.00057
NM_000093.5(COL5A1):c.*42C>G rs374547961 0.00041
NM_000093.5(COL5A1):c.924+14G>A rs200595318 0.00041
NM_000093.5(COL5A1):c.126C>T (p.Leu42=) rs149369116 0.00040
NM_000093.5(COL5A1):c.*55G>A rs533831376 0.00039
NM_000093.5(COL5A1):c.3069C>T (p.Pro1023=) rs139070070 0.00038
NM_000393.5(COL5A2):c.*904A>C rs778818824 0.00038
NM_000093.5(COL5A1):c.*424A>G rs574355137 0.00037
NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly) rs140952583 0.00036
NM_000093.5(COL5A1):c.4683A>C (p.Gly1561=) rs149959668 0.00034
NM_000093.5(COL5A1):c.5370+11C>T rs764644830 0.00032
NM_000393.5(COL5A2):c.*446G>A rs570467727 0.00032
NM_000093.5(COL5A1):c.3591C>T (p.Asp1197=) rs370349155 0.00031
NM_000093.5(COL5A1):c.367C>G (p.Gln123Glu) rs142114921 0.00031
NM_000393.5(COL5A2):c.1923+8T>C rs191193125 0.00029
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg) rs150260969 0.00029
NM_000393.5(COL5A2):c.322+8T>C rs372227642 0.00026
NM_000393.5(COL5A2):c.4392T>C (p.Tyr1464=) rs142544320 0.00026
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501 0.00026
NM_000093.5(COL5A1):c.*145G>A rs181323324 0.00023
NM_000093.5(COL5A1):c.-139G>T rs886063672 0.00022
NM_000093.5(COL5A1):c.1637C>T (p.Ala546Val) rs557361751 0.00022
NM_000393.4(COL5A2):c.-176T>A rs570350400 0.00021
NM_000093.5(COL5A1):c.*2294A>T rs571153134 0.00019
NM_000093.5(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509 0.00019
NM_000093.5(COL5A1):c.*1734G>A rs886063688 0.00016
NM_000093.5(COL5A1):c.*1845A>G rs553877631 0.00016
NM_000093.5(COL5A1):c.*1848C>G rs886063692 0.00016
NM_000093.5(COL5A1):c.*2175G>A rs781775180 0.00016
NM_000393.5(COL5A2):c.263C>A (p.Pro88His) rs149877855 0.00016
NM_000093.5(COL5A1):c.850G>A (p.Glu284Lys) rs75648697 0.00012
NM_000093.5(COL5A1):c.2493C>T (p.Ile831=) rs199630108 0.00011
NM_000393.5(COL5A2):c.*561T>C rs564981830 0.00011
NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg) rs144602736 0.00011
NM_000393.5(COL5A2):c.2741C>T (p.Ala914Val) rs201486858 0.00011
NM_000088.4(COL1A1):c.*1384_*1387del rs886053139 0.00010
NM_000093.5(COL5A1):c.1350C>T (p.Gly450=) rs576332528 0.00010
NM_000393.5(COL5A2):c.3178C>T (p.Arg1060Trp) rs374549843 0.00010
NM_000393.5(COL5A2):c.403-3T>C rs369733690 0.00010
NM_000093.5(COL5A1):c.*1887G>A rs886063693 0.00009
NM_000093.5(COL5A1):c.*2410C>G rs886063694 0.00009
NM_000093.5(COL5A1):c.*608G>A rs537858864 0.00009
NM_000093.5(COL5A1):c.*68C>T rs886063679 0.00009
NM_000093.5(COL5A1):c.2331+15C>T rs369093559 0.00009
NM_000093.5(COL5A1):c.3023C>T (p.Thr1008Met) rs199735010 0.00009
NM_000093.5(COL5A1):c.3345G>A (p.Pro1115=) rs764683617 0.00009
NM_000093.5(COL5A1):c.804C>T (p.Gly268=) rs147729713 0.00009
NM_000393.5(COL5A2):c.*126A>G rs755412373 0.00009
NM_000093.5(COL5A1):c.4275C>T (p.Ile1425=) rs767372665 0.00008
NM_000088.4(COL1A1):c.*714C>T rs567392981 0.00007
NM_000093.5(COL5A1):c.3111G>A (p.Thr1037=) rs758336822 0.00007
NM_000093.5(COL5A1):c.3573A>G (p.Pro1191=) rs564398230 0.00007
NM_000393.5(COL5A2):c.*1961T>C rs886055346 0.00007
NM_000393.5(COL5A2):c.*401A>C rs886055352 0.00007
NM_000093.5(COL5A1):c.*2090C>T rs578207933 0.00006
NM_000093.5(COL5A1):c.3231A>G (p.Glu1077=) rs376248130 0.00006
NM_000093.5(COL5A1):c.3939G>T (p.Glu1313Asp) rs886063676 0.00006
NM_000093.5(COL5A1):c.761C>T (p.Ser254Leu) rs144844792 0.00006
NM_000093.5(COL5A1):c.805G>A (p.Glu269Lys) rs761079177 0.00006
NM_000393.5(COL5A2):c.2852G>A (p.Gly951Glu) rs772448543 0.00006
NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly) rs200325397 0.00006
NM_000093.5(COL5A1):c.*302C>G rs376087882 0.00005
NM_000093.5(COL5A1):c.5293C>T (p.Arg1765Cys) rs199703883 0.00005
NM_000393.5(COL5A2):c.2544C>T (p.Ala848=) rs370774253 0.00005
NM_000393.5(COL5A2):c.3201+14C>T rs368713290 0.00005
NM_000093.5(COL5A1):c.*1788G>A rs886063690 0.00004
NM_000093.5(COL5A1):c.3247C>T (p.Pro1083Ser) rs370321707 0.00004
NM_000393.5(COL5A2):c.*211T>A rs776264833 0.00004
NM_000393.5(COL5A2):c.3614T>C (p.Val1205Ala) rs148110552 0.00004
NM_000393.5(COL5A2):c.851C>T (p.Pro284Leu) rs540573303 0.00004
NM_000093.5(COL5A1):c.1270A>G (p.Thr424Ala) rs535363331 0.00003
NM_000093.5(COL5A1):c.2182G>A (p.Ala728Thr) rs575535171 0.00003
NM_000093.5(COL5A1):c.4192G>A (p.Ala1398Thr) rs759464073 0.00003
NM_000093.5(COL5A1):c.739G>A (p.Ala247Thr) rs769115550 0.00003
NM_000393.5(COL5A2):c.3668C>T (p.Pro1223Leu) rs753383064 0.00003
NM_000393.5(COL5A2):c.4333G>A (p.Val1445Ile) rs762653511 0.00003
NM_000088.4(COL1A1):c.*251dup rs886053154 0.00002
NM_000093.5(COL5A1):c.*1787G>A rs886063689 0.00002
NM_000093.5(COL5A1):c.1734C>T (p.Ser578=) rs148094039 0.00002
NM_000093.5(COL5A1):c.3627C>T (p.Phe1209=) rs748000980 0.00002
NM_000093.5(COL5A1):c.37C>T (p.Leu13Phe) rs762625123 0.00002
NM_000093.5(COL5A1):c.3897C>T (p.Gly1299=) rs745918663 0.00002
NM_000093.5(COL5A1):c.4652C>T (p.Thr1551Ile) rs863223460 0.00002
NM_000093.5(COL5A1):c.4955-13C>T rs770897242 0.00002
NM_000393.5(COL5A2):c.2468T>C (p.Leu823Ser) rs372904150 0.00002
NM_000393.5(COL5A2):c.3040-8T>C rs886055355 0.00002
NM_000393.5(COL5A2):c.3119A>G (p.Asn1040Ser) rs773168254 0.00002
NM_000393.5(COL5A2):c.3341G>A (p.Arg1114Gln) rs377049803 0.00002
NM_000393.5(COL5A2):c.906+10A>T rs776578452 0.00002
NM_000093.5(COL5A1):c.*1260G>A rs557696379 0.00001
NM_000093.5(COL5A1):c.*589G>A rs886063682 0.00001
NM_000093.5(COL5A1):c.*596A>G rs775044518 0.00001
NM_000093.5(COL5A1):c.1332+4dup rs886063674 0.00001
NM_000093.5(COL5A1):c.4370C>T (p.Pro1457Leu) rs201875250 0.00001
NM_000093.5(COL5A1):c.4371G>A (p.Pro1457=) rs756096066 0.00001
NM_000093.5(COL5A1):c.4791T>C (p.Asn1597=) rs886063677 0.00001
NM_000093.5(COL5A1):c.5263G>A (p.Ala1755Thr) rs776748227 0.00001
NM_000093.5(COL5A1):c.5439G>T (p.Val1813=) rs886063678 0.00001
NM_000393.5(COL5A2):c.*1460A>T rs886055349 0.00001
NM_000393.5(COL5A2):c.*1970T>G rs548360577 0.00001
NM_000393.5(COL5A2):c.2423C>T (p.Pro808Leu) rs575864379 0.00001
NM_000393.5(COL5A2):c.2988C>T (p.Gly996=) rs201299226 0.00001
NM_000393.5(COL5A2):c.3379C>T (p.Arg1127Cys) rs886055354 0.00001
NM_000393.5(COL5A2):c.3633+12A>G rs886055353 0.00001
NM_000393.5(COL5A2):c.3633+14G>T rs776087725 0.00001
NM_000393.5(COL5A2):c.799-7C>A rs879227018 0.00001
NM_000088.4(COL1A1):c.*1007_*1008del rs886053144
NM_000088.4(COL1A1):c.*1026TG[1] rs878983048
NM_000088.4(COL1A1):c.*1026_*1028del rs751268781
NM_000088.4(COL1A1):c.*1027del rs878912123
NM_000088.4(COL1A1):c.*1029_*1031del rs886053143
NM_000088.4(COL1A1):c.*1030_*1031del rs886053142
NM_000088.4(COL1A1):c.*1045del rs886053141
NM_000088.4(COL1A1):c.*215del rs886053157
NM_000088.4(COL1A1):c.*242_*244dup rs56302025
NM_000088.4(COL1A1):c.*243_*244dup rs56302025
NM_000088.4(COL1A1):c.*245_*246dup rs886053155
NM_000088.4(COL1A1):c.*245del rs886053156
NM_000088.4(COL1A1):c.*255dup rs886053153
NM_000088.4(COL1A1):c.*257_*258dup rs886053152
NM_000088.4(COL1A1):c.*258dup rs886053152
NM_000088.4(COL1A1):c.*259_*260insAT rs886053151
NM_000088.4(COL1A1):c.*681_*682insAGCA rs3840870
NM_000088.4(COL1A1):c.*998_*999del rs886053145
NM_000088.4(COL1A1):c.-78_-77delinsAA rs886053163
NM_000093.5(COL5A1):c.*1047_*1049dup rs886063686
NM_000093.5(COL5A1):c.*1086ATCT[1] rs16399
NM_000093.5(COL5A1):c.*1653dup rs541530510
NM_000093.5(COL5A1):c.*173C>T rs886063680
NM_000093.5(COL5A1):c.*1807G>C rs374715103
NM_000093.5(COL5A1):c.*1849ACAA[3] rs886063691
NM_000093.5(COL5A1):c.*2252T>C rs529530286
NM_000093.5(COL5A1):c.*235C>T rs886063681
NM_000093.5(COL5A1):c.*700G>C rs750272409
NM_000093.5(COL5A1):c.*727dup rs1554727609
NM_000093.5(COL5A1):c.*733C>A rs3196378
NM_000093.5(COL5A1):c.*865dup rs57599653
NM_000093.5(COL5A1):c.*866_*867insTAG rs886063684
NM_000093.5(COL5A1):c.*867_*868insATAGG rs1554727637
NM_000093.5(COL5A1):c.*870_*873dup rs10628678
NM_000093.5(COL5A1):c.*948C>G rs142032213
NM_000093.5(COL5A1):c.-276AGG[7] rs886063671
NM_000093.5(COL5A1):c.-287G>C rs886063670
NM_000093.5(COL5A1):c.-357G>T rs886063669
NM_000093.5(COL5A1):c.1224G>C (p.Thr408=) rs139406076
NM_000093.5(COL5A1):c.1830T>C (p.Gly610=) rs886063675
NM_000093.5(COL5A1):c.1989G>C (p.Arg663Ser) rs774093862
NM_000093.5(COL5A1):c.2555A>G (p.Asn852Ser) rs148146480
NM_000093.5(COL5A1):c.3564C>T (p.Ile1188=) rs766961124
NM_000093.5(COL5A1):c.365A>G (p.Glu122Gly) rs886063673
NM_000093.5(COL5A1):c.3906+15G>C rs370937109
NM_000093.5(COL5A1):c.431C>A (p.Thr144Lys) rs561761305
NM_000093.5(COL5A1):c.4482G>A (p.Pro1494=) rs2228560
NM_000093.5(COL5A1):c.4482G>C (p.Pro1494=) rs2228560
NM_000093.5(COL5A1):c.5371-12C>T rs769740900
NM_000093.5(COL5A1):c.787-9C>T rs751472921
NM_000393.5(COL5A2):c.*1465G>T rs886055348
NM_000393.5(COL5A2):c.*1668C>G rs772852972
NM_000393.5(COL5A2):c.*1764G>T rs554165132
NM_000393.5(COL5A2):c.*1894C>A rs886055347
NM_000393.5(COL5A2):c.*589_*590del rs200554257
NM_000393.5(COL5A2):c.*590dup rs200554257
NM_000393.5(COL5A2):c.*694TA[1] rs886055351
NM_000393.5(COL5A2):c.*716A>G rs886055350
NM_000393.5(COL5A2):c.1350A>G (p.Gly450=) rs886055357
NM_000393.5(COL5A2):c.2499+10A>G rs886055356
NM_000393.5(COL5A2):c.2770-15del rs577038385
NM_000393.5(COL5A2):c.532C>T (p.His178Tyr) rs886055358
NM_000393.5(COL5A2):c.552C>T (p.Pro184=) rs548352939
NM_000393.5(COL5A2):c.744+7G>A rs774993105
NM_000393.5(COL5A2):c.961-3del rs542134887

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