ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome by Genome-Nilou Lab

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 380
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HGVS dbSNP gnomAD frequency
NM_001129.5(AEBP1):c.2218-37dup rs11377645 1.00000
NM_001367624.2(ZNF469):c.3153T>C (p.Ile1051=) rs9924504 0.99996
NM_000088.4(COL1A1):c.2298T>C (p.Thr766=) rs2734272 0.99956
NM_000088.4(COL1A1):c.2830-33C>G rs2586489 0.99956
NM_000093.5(COL5A1):c.-247T>G rs71483234 0.99656
NM_001367624.2(ZNF469):c.8627A>G (p.His2876Arg) rs1983014 0.99622
NM_001367624.2(ZNF469):c.1529G>C (p.Gly510Ala) rs7199961 0.99603
NM_000090.4(COL3A1):c.4059T>G (p.His1353Gln) rs1516446 0.99509
NM_007255.3(B4GALT7):c.828+28A>G rs6600953 0.99130
NM_001367624.2(ZNF469):c.11856C>T (p.Ser3952=) rs4782362 0.98833
NM_000088.4(COL1A1):c.3223= (p.Ala1075=) rs1800215 0.97286
NM_000393.5(COL5A2):c.3411T>C (p.Gly1137=) rs6434312 0.96092
NM_000393.5(COL5A2):c.1311A>G (p.Pro437=) rs2229495 0.95762
NM_013352.4(DSE):c.1926T>C (p.Asn642=) rs560644 0.95438
NM_001128225.3(SLC39A13):c.83A>G (p.Glu28Gly) rs2010519 0.94826
NM_000393.5(COL5A2):c.315C>A (p.Thr105=) rs4128539 0.93266
NM_014244.5(ADAMTS2):c.786G>A (p.Ala262=) rs423552 0.93088
NM_001367624.2(ZNF469):c.5661C>G (p.Thr1887=) rs9931465 0.89293
NM_001367624.2(ZNF469):c.3522G>A (p.Pro1174=) rs9938800 0.89252
NM_004370.6(COL12A1):c.5871T>A (p.Ala1957=) rs594012 0.87913
NM_001367624.2(ZNF469):c.4343C>T (p.Pro1448Leu) rs4782300 0.87223
NM_001367624.2(ZNF469):c.1776A>G (p.Pro592=) rs12927001 0.86712
NM_000088.4(COL1A1):c.2028+39C>T rs2857396 0.85962
NM_001367624.2(ZNF469):c.4419T>G (p.Ser1473=) rs12445417 0.85761
NM_001367624.2(ZNF469):c.1098A>C (p.Arg366Ser) rs11640794 0.84448
NM_000089.4(COL1A2):c.936+14C>T rs42518 0.81710
NM_000089.4(COL1A2):c.937-3C>T rs42519 0.81243
NM_000089.4(COL1A2):c.1645C>G (p.Pro549Ala) rs42524 0.80779
NM_001367624.2(ZNF469):c.3568A>G (p.Lys1190Glu) rs7197071 0.80067
NM_001367624.2(ZNF469):c.11757A>G (p.Pro3919=) rs4782301 0.77860
NM_000093.5(COL5A1):c.*83C>T rs13946 0.76018
NM_001129.5(AEBP1):c.996A>G (p.Thr332=) rs2595701 0.75024
NM_004370.6(COL12A1):c.9172G>A (p.Gly3058Ser) rs970547 0.72620
NM_000090.4(COL3A1):c.2337+23T>A rs2271682 0.71236
NM_000093.5(COL5A1):c.4955-28T>C rs7868111 0.71059
NM_000088.4(COL1A1):c.1984-41G>A rs2586490 0.70223
NM_001365276.2(TNXB):c.7553G>A (p.Gly2518Glu) rs1009382 0.68787
NM_000088.4(COL1A1):c.3261+31T>C rs2586488 0.66062
NM_000093.5(COL5A1):c.4608+31T>C rs9697186 0.65324
NM_000093.5(COL5A1):c.2701-22C>T rs4072883 0.65253
NM_007255.3(B4GALT7):c.219T>C (p.Arg73=) rs11537644 0.65175
NM_004370.6(COL12A1):c.7086+44C>G rs499018 0.64589
NM_000093.5(COL5A1):c.1332+92C>G rs3124310 0.64521
NM_001365276.2(TNXB):c.7440T>C (p.Tyr2480=) rs204887 0.63524
NM_000093.5(COL5A1):c.4230+103T>C rs11792894 0.61932
NM_001367624.2(ZNF469):c.2130T>C (p.Pro710=) rs12918876 0.60216
NM_007255.3(B4GALT7):c.777T>C (p.His259=) rs729459 0.58812
NM_000093.5(COL5A1):c.1432-5T>C rs3128612 0.57159
NM_000093.5(COL5A1):c.1432-24C>T rs3109677 0.57123
NM_000088.4(COL1A1):c.299-20C>G rs2256835 0.54824
NM_001365276.2(TNXB):c.11531-25T>C rs2856451 0.54722
NM_001365276.2(TNXB):c.7251A>G (p.Leu2417=) rs204886 0.53630
NM_000093.5(COL5A1):c.2952+11A>T rs4240707 0.51337
NM_001365276.2(TNXB):c.3482A>G (p.His1161Arg) rs185819 0.51248
NM_000093.5(COL5A1):c.2845-37A>G rs3811159 0.48658
NM_014244.5(ADAMTS2):c.2291-43T>C rs2251105 0.47685
NM_000093.5(COL5A1):c.4176+48A>G rs10858283 0.47462
NM_000093.5(COL5A1):c.4176+35A>C rs10776910 0.47443
NM_014244.5(ADAMTS2):c.*212A>C rs10479525 0.47333
NM_014244.5(ADAMTS2):c.975+151T>A rs1862212 0.47156
NM_001365276.2(TNXB):c.11387-45T>C rs397948 0.46540
NM_014244.5(ADAMTS2):c.2618-54C>T rs2303643 0.46469
NM_001367624.2(ZNF469):c.10972G>C (p.Glu3658Gln) rs1105066 0.44478
NM_001129.5(AEBP1):c.3397A>G (p.Lys1133Glu) rs13928 0.44136
NM_000093.5(COL5A1):c.*267C>T rs12722 0.43648
NM_001367624.2(ZNF469):c.8604C>T (p.Arg2868=) rs3812953 0.43642
NM_004370.6(COL12A1):c.5395-29G>A rs1332020 0.42606
NM_000093.5(COL5A1):c.1332+46T>C rs3109675 0.41683
NM_000093.5(COL5A1):c.787-42C>T rs3124302 0.39339
NM_000093.5(COL5A1):c.925-49A>G rs3124308 0.39183
NM_000093.5(COL5A1):c.925-43G>A rs3128598 0.39167
NM_018699.4(PRDM5):c.744-38C>T rs2136998 0.38181
NM_001365276.2(TNXB):c.6696C>T (p.Asp2232=) rs204883 0.37626
NM_000093.5(COL5A1):c.2430+20C>T rs3124932 0.36473
NM_001129.5(AEBP1):c.817C>A (p.Pro273Thr) rs2537188 0.36288
NM_001367624.2(ZNF469):c.7156G>C (p.Gly2386Arg) rs12598474 0.36151
NM_000089.4(COL1A2):c.1446A>C (p.Pro482=) rs412777 0.35874
NM_000093.5(COL5A1):c.738C>T (p.Thr246=) rs3124299 0.34823
NM_014244.5(ADAMTS2):c.534+9G>C rs2271213 0.33886
NM_014244.5(ADAMTS2):c.321T>C (p.Ser107=) rs2271212 0.33047
NM_014244.5(ADAMTS2):c.733G>A (p.Val245Ile) rs398829 0.32945
NM_001367624.2(ZNF469):c.8093T>A (p.Leu2698Gln) rs3812956 0.32763
NM_000302.4(PLOD1):c.1206C>T (p.Asn402=) rs1130529 0.32745
NM_000093.5(COL5A1):c.4230+118C>T rs7847840 0.32683
NM_000093.5(COL5A1):c.4176+9T>G rs10858282 0.31743
NM_000093.5(COL5A1):c.1569+16A>G rs12685946 0.29746
NM_004370.6(COL12A1):c.5213T>C (p.Ile1738Thr) rs240736 0.29412
NM_000090.4(COL3A1):c.2244T>C (p.Gly748=) rs1801184 0.27758
NM_000093.5(COL5A1):c.1720-48T>C rs10123014 0.27505
NM_001365276.2(TNXB):c.6842-24C>T rs2239689 0.25409
NM_001365276.2(TNXB):c.12170A>T (p.Asn4057Ile) rs17421133 0.25264
NM_001128225.3(SLC39A13):c.573G>A (p.Ala191=) rs2293576 0.25113
NM_000302.4(PLOD1):c.294C>T (p.Phe98=) rs7529452 0.24445
NM_014244.5(ADAMTS2):c.2028C>T (p.Asp676=) rs1972715 0.24390
NM_014244.5(ADAMTS2):c.1952-82T>A rs1549603 0.24380
NM_001367624.2(ZNF469):c.*8G>A rs45504291 0.24166
NM_014244.5(ADAMTS2):c.2291-193G>A rs2303645 0.23837
NM_014244.5(ADAMTS2):c.1629+24G>C rs2303637 0.23704
NM_014244.5(ADAMTS2):c.3529C>T (p.Pro1177Ser) rs1054480 0.23682
NM_000090.4(COL3A1):c.3824-31C>A rs10204508 0.23605
NM_000090.4(COL3A1):c.1978-11C>T rs13306272 0.23521
NM_013352.4(DSE):c.74C>T (p.Thr25Ile) rs10485183 0.23388
NM_000088.4(COL1A1):c.588+33T>C rs35231764 0.22664
NM_000093.5(COL5A1):c.3475-42G>C rs3811152 0.22492
NM_000093.5(COL5A1):c.1570-59T>C rs12686426 0.22376
NM_014244.5(ADAMTS2):c.2959-17C>T rs2303641 0.21622
NM_000090.4(COL3A1):c.2092G>A (p.Ala698Thr) rs1800255 0.21080
NM_000093.5(COL5A1):c.1720-34C>T rs73558067 0.20873
NM_014244.5(ADAMTS2):c.1630-18T>C rs2303638 0.20408
NM_014244.5(ADAMTS2):c.1238+18G>A rs2278222 0.20277
NM_014244.5(ADAMTS2):c.1194C>T (p.Asp398=) rs2278221 0.20236
NM_000093.5(COL5A1):c.1332+25C>T rs56385965 0.19286
NM_000093.5(COL5A1):c.4177-107T>C rs7854010 0.19207
NM_014244.5(ADAMTS2):c.1132+135G>A rs41285551 0.19040
NM_000088.4(COL1A1):c.3815-35T>C rs2277632 0.18865
NM_014244.5(ADAMTS2):c.1776-26G>A rs9286045 0.18560
NM_014244.5(ADAMTS2):c.1133-57C>T rs4700784 0.18228
NM_014244.5(ADAMTS2):c.2532C>T (p.Asp844=) rs2303644 0.17766
NM_014244.5(ADAMTS2):c.858C>T (p.His286=) rs66565583 0.17241
NM_000093.5(COL5A1):c.2431-25G>A rs41310213 0.16712
NM_000090.4(COL3A1):c.1816-14G>C rs7579815 0.15982
NM_000090.4(COL3A1):c.1851G>A (p.Gln617=) rs7579903 0.15955
NM_000093.5(COL5A1):c.1720-47C>T rs79679217 0.15948
NM_000093.5(COL5A1):c.1827+45G>A rs11103502 0.15221
NM_000093.5(COL5A1):c.4122G>A (p.Thr1374=) rs3827848 0.14130
NM_000393.5(COL5A2):c.852+14C>T rs56310996 0.14063
NM_014244.5(ADAMTS2):c.1516-138A>G rs11746123 0.13423
NM_000093.5(COL5A1):c.1936-35C>A rs10858278 0.13121
NM_014244.5(ADAMTS2):c.534+50T>C rs2271214 0.13091
NM_000393.5(COL5A2):c.568-10G>A rs58106884 0.13056
NM_000393.5(COL5A2):c.337-26T>C rs56380683 0.13043
NM_001367624.2(ZNF469):c.6462G>A (p.Pro2154=) rs61472141 0.10977
NM_000093.5(COL5A1):c.3745-37G>A rs45629034 0.10800
NM_000093.5(COL5A1):c.3745-18G>A rs45556931 0.10766
NM_001367624.2(ZNF469):c.1489G>A (p.Gly497Arg) rs28723506 0.09509
NM_001367624.2(ZNF469):c.6470G>A (p.Arg2157Lys) rs13334190 0.09442
NM_000093.5(COL5A1):c.2593-45G>A rs45497895 0.08250
NM_001367624.2(ZNF469):c.*46C>A rs78600508 0.08121
NM_000093.5(COL5A1):c.1092C>T (p.Pro364=) rs41306391 0.08110
NM_000093.5(COL5A1):c.1569+15C>T rs62574081 0.07860
NM_000093.5(COL5A1):c.2646+27C>T rs13301426 0.07414
NM_000093.5(COL5A1):c.110-34C>T rs72772548 0.07019
NM_000093.5(COL5A1):c.*311C>T rs1134114 0.06809
NM_001367624.2(ZNF469):c.7508C>A (p.Ala2503Glu) rs141218390 0.06780
NM_000093.5(COL5A1):c.1431G>A (p.Ala477=) rs61729545 0.06122
NM_001367624.2(ZNF469):c.8330A>T (p.Asp2777Val) rs3812954 0.06060
NM_001367624.2(ZNF469):c.3516T>C (p.Arg1172=) rs111557381 0.06017
NM_014244.5(ADAMTS2):c.2291-8A>G rs140401199 0.04871
NM_000093.5(COL5A1):c.4447-45G>A rs3811147 0.04567
NM_001367624.2(ZNF469):c.1285G>A (p.Ala429Thr) rs113937803 0.04541
NM_000093.5(COL5A1):c.2745+15A>T rs79481146 0.04340
NM_014244.5(ADAMTS2):c.1383-22C>T rs115740207 0.04147
NM_001367624.2(ZNF469):c.1143C>A (p.Pro381=) rs74032864 0.04134
NM_000093.5(COL5A1):c.3475-36A>C rs13297647 0.03921
NM_000093.5(COL5A1):c.3528+43G>A rs41306395 0.03911
NM_000093.5(COL5A1):c.2700+46C>T rs34636935 0.03889
NM_000093.5(COL5A1):c.4560C>T (p.Ile1520=) rs2228559 0.03652
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_001367624.2(ZNF469):c.8212G>A (p.Ala2738Thr) rs3812955 0.02902
NM_000093.5(COL5A1):c.4230+6G>A rs77176843 0.02700
NM_000093.5(COL5A1):c.4393-9C>T rs11792181 0.02555
NM_000093.5(COL5A1):c.2724G>A (p.Pro908=) rs41310207 0.02534
NM_001367624.2(ZNF469):c.4434C>T (p.Ser1478=) rs74032865 0.02534
NM_000093.5(COL5A1):c.2232+36C>T rs45622539 0.02468
NM_000093.5(COL5A1):c.1935+8T>G rs79195626 0.02373
NM_001367624.2(ZNF469):c.11409G>C (p.Gly3803=) rs150233193 0.02319
NM_001367624.2(ZNF469):c.10975G>A (p.Gly3659Arg) rs3812951 0.02265
NM_000093.5(COL5A1):c.574G>A (p.Asp192Asn) rs138579182 0.02227
NM_001367624.2(ZNF469):c.4406A>G (p.Tyr1469Cys) rs116072997 0.02164
NM_001367624.2(ZNF469):c.2913C>A (p.Gly971=) rs60462217 0.02154
NM_001367624.2(ZNF469):c.3650C>T (p.Pro1217Leu) rs115183769 0.02140
NM_000093.5(COL5A1):c.2034+24C>T rs41298367 0.02041
NM_001367624.2(ZNF469):c.6777G>A (p.Glu2259=) rs76442115 0.02017
NM_001367624.2(ZNF469):c.6779A>G (p.Lys2260Arg) rs75136873 0.02017
NM_001367624.2(ZNF469):c.6944C>G (p.Pro2315Arg) rs77490207 0.01795
NM_001367624.2(ZNF469):c.5697C>T (p.Ser1899=) rs111986360 0.01774
NM_000093.5(COL5A1):c.4955-16C>T rs112712705 0.01710
NM_000093.5(COL5A1):c.5067+20C>G rs112600748 0.01689
NM_001367624.2(ZNF469):c.3894G>C (p.Val1298=) rs115790991 0.01614
NM_000093.5(COL5A1):c.5068-7T>C rs113256540 0.01472
NM_001367624.2(ZNF469):c.10708G>A (p.Ala3570Thr) rs57052487 0.01385
NM_001367624.2(ZNF469):c.3125G>A (p.Arg1042Gln) rs181077813 0.01341
NM_001367624.2(ZNF469):c.2034C>T (p.Ala678=) rs58401704 0.01305
NM_000093.5(COL5A1):c.2799+4T>C rs75815945 0.01279
NM_001367624.2(ZNF469):c.8121G>A (p.Ala2707=) rs116696830 0.01217
NM_000093.5(COL5A1):c.5190C>T (p.Phe1730=) rs61729481 0.01170
NM_001367624.2(ZNF469):c.2574G>C (p.Pro858=) rs74384633 0.01153
NM_001367624.2(ZNF469):c.6032G>A (p.Gly2011Asp) rs79155191 0.01148
NM_001367624.2(ZNF469):c.7764G>A (p.Pro2588=) rs117149938 0.01130
NM_001367624.2(ZNF469):c.2407G>T (p.Ala803Ser) rs113484918 0.01110
NM_001367624.2(ZNF469):c.4926G>A (p.Ser1642=) rs117310292 0.00992
NM_000093.5(COL5A1):c.2852A>G (p.Asn951Ser) rs61736966 0.00972
NM_001367624.2(ZNF469):c.9004A>C (p.Met3002Leu) rs141776185 0.00951
NM_001367624.2(ZNF469):c.1697C>T (p.Ala566Val) rs181785233 0.00939
NM_001367624.2(ZNF469):c.2814G>A (p.Ala938=) rs140480823 0.00931
NM_000093.5(COL5A1):c.4699-6C>T rs113090154 0.00923
NM_001367624.2(ZNF469):c.4884G>A (p.Thr1628=) rs141666432 0.00893
NM_001367624.2(ZNF469):c.2370G>A (p.Leu790=) rs147859144 0.00882
NM_000093.5(COL5A1):c.-110A>G rs180741151 0.00852
NM_001367624.2(ZNF469):c.10034G>A (p.Arg3345His) rs79339739 0.00810
NM_000093.5(COL5A1):c.5151C>T (p.Asp1717=) rs61729558 0.00781
NM_001367624.2(ZNF469):c.4363C>G (p.Leu1455Val) rs116532825 0.00765
NM_001367624.2(ZNF469):c.5087C>T (p.Pro1696Leu) rs115487796 0.00752
NM_001367624.2(ZNF469):c.8868C>T (p.Pro2956=) rs137930753 0.00731
NM_001367624.2(ZNF469):c.7805T>C (p.Leu2602Pro) rs150488251 0.00706
NM_000093.5(COL5A1):c.1566G>A (p.Leu522=) rs61737941 0.00682
NM_000093.5(COL5A1):c.5136+40A>G rs183298179 0.00678
NM_000093.5(COL5A1):c.*283G>A rs114171895 0.00635
NM_000093.5(COL5A1):c.1062C>T (p.Asp354=) rs61737708 0.00634
NM_001367624.2(ZNF469):c.4421C>T (p.Ala1474Val) rs199897247 0.00605
NM_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195 0.00598
NM_001367624.2(ZNF469):c.1994C>T (p.Pro665Leu) rs184583062 0.00587
NM_000093.5(COL5A1):c.*14C>T rs12553247 0.00580
NM_000093.5(COL5A1):c.4231-12G>A rs188473199 0.00543
NM_000093.5(COL5A1):c.4393-17C>T rs141152269 0.00515
NM_000093.5(COL5A1):c.5137-11T>C rs183495554 0.00512
NM_000093.5(COL5A1):c.-37G>A rs374979485 0.00508
NM_000093.5(COL5A1):c.5137-12C>T rs191758714 0.00488
NM_000093.5(COL5A1):c.4955-48G>A rs60879388 0.00480
NM_001367624.2(ZNF469):c.62G>A (p.Arg21His) rs145178398 0.00473
NM_001367624.2(ZNF469):c.10855G>A (p.Val3619Met) rs111494864 0.00468
NM_001367624.2(ZNF469):c.5414C>A (p.Pro1805His) rs78446958 0.00467
NM_000093.5(COL5A1):c.-382C>G rs555826102 0.00465
NM_001367624.2(ZNF469):c.9125G>A (p.Arg3042His) rs150598363 0.00461
NM_000093.5(COL5A1):c.2799+13C>A rs75668257 0.00443
NM_014244.5(ADAMTS2):c.1458C>T (p.Tyr486=) rs61757478 0.00427
NM_001367624.2(ZNF469):c.327G>A (p.Ala109=) rs192479136 0.00424
NM_001367624.2(ZNF469):c.10795G>T (p.Ala3599Ser) rs199760004 0.00417
NM_001367624.2(ZNF469):c.7675A>G (p.Lys2559Glu) rs146789160 0.00403
NM_000093.5(COL5A1):c.5407G>A (p.Asp1803Asn) rs61729495 0.00394
NM_001367624.2(ZNF469):c.5824G>A (p.Gly1942Arg) rs114755302 0.00371
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.2439C>T (p.Asp813=) rs148648778 0.00340
NM_001367624.2(ZNF469):c.10472C>G (p.Pro3491Arg) rs183437633 0.00340
NM_001367624.2(ZNF469):c.6489G>A (p.Gln2163=) rs572299080 0.00320
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_000093.5(COL5A1):c.240C>T (p.Asp80=) rs79724538 0.00288
NM_000093.5(COL5A1):c.2058G>A (p.Pro686=) rs143443499 0.00283
NM_001367624.2(ZNF469):c.7611G>C (p.Glu2537Asp) rs199519673 0.00279
NM_001367624.2(ZNF469):c.7935G>A (p.Glu2645=) rs189596398 0.00279
NM_001367624.2(ZNF469):c.9161A>C (p.Glu3054Ala) rs139565761 0.00277
NM_001367624.2(ZNF469):c.869C>T (p.Ala290Val) rs117501524 0.00258
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=) rs41310953 0.00253
NM_001367624.2(ZNF469):c.8694C>T (p.Gly2898=) rs114884145 0.00244
NM_000093.5(COL5A1):c.110-19T>C rs148294644 0.00239
NM_001367624.2(ZNF469):c.6800G>A (p.Arg2267Gln) rs181887079 0.00232
NM_001367624.2(ZNF469):c.6036G>A (p.Thr2012=) rs149961653 0.00229
NM_001367624.2(ZNF469):c.10327G>C (p.Gly3443Arg) rs532857190 0.00223
NM_001367624.2(ZNF469):c.2803G>A (p.Glu935Lys) rs117995699 0.00222
NM_001367624.2(ZNF469):c.8381C>T (p.Thr2794Met) rs202188220 0.00214
NM_001367624.2(ZNF469):c.11568C>T (p.Arg3856=) rs367547260 0.00208
NM_001367624.2(ZNF469):c.8064C>T (p.Asp2688=) rs558108271 0.00208
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_000093.5(COL5A1):c.4230+5C>T rs142248898 0.00182
NM_000093.5(COL5A1):c.2695G>A (p.Gly899Ser) rs149964491 0.00176
NM_000093.5(COL5A1):c.277+6T>G rs201910803 0.00174
NM_001367624.2(ZNF469):c.751C>A (p.Pro251Thr) rs540655479 0.00166
NM_000093.5(COL5A1):c.4065C>T (p.Pro1355=) rs61737906 0.00164
NM_000093.5(COL5A1):c.194G>A (p.Arg65Gln) rs116003670 0.00162
NM_000093.5(COL5A1):c.3259-8C>T rs146461106 0.00159
NM_001367624.2(ZNF469):c.8076G>A (p.Pro2692=) rs149200506 0.00158
NM_001367624.2(ZNF469):c.3504C>T (p.Ser1168=) rs533300920 0.00145
NM_000093.5(COL5A1):c.1539C>T (p.Pro513=) rs151173863 0.00129
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_000093.5(COL5A1):c.4788G>C (p.Gly1596=) rs138436047 0.00116
NM_001367624.2(ZNF469):c.2653C>G (p.Leu885Val) rs139653501 0.00113
NM_001367624.2(ZNF469):c.10656G>A (p.Pro3552=) rs191234581 0.00106
NM_001367624.2(ZNF469):c.10518G>A (p.Pro3506=) rs376379111 0.00103
NM_000093.5(COL5A1):c.3855C>T (p.Gly1285=) rs139544503 0.00102
NM_000093.5(COL5A1):c.1953C>T (p.Ser651=) rs78215347 0.00101
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser) rs548525119 0.00094
NM_000093.5(COL5A1):c.3528+14C>T rs371865645 0.00086
NM_001367624.2(ZNF469):c.946G>A (p.Glu316Lys) rs368772806 0.00085
NM_000093.5(COL5A1):c.4795G>C (p.Glu1599Gln) rs149212775 0.00083
NM_001367624.2(ZNF469):c.2035G>A (p.Glu679Lys) rs551591362 0.00080
NM_000093.5(COL5A1):c.1998C>T (p.Asp666=) rs143858735 0.00071
NM_000093.5(COL5A1):c.252C>T (p.Ser84=) rs151293601 0.00066
NM_000093.5(COL5A1):c.3115-14G>A rs368945793 0.00065
NM_000093.5(COL5A1):c.2031G>A (p.Glu677=) rs61737719 0.00062
NM_000093.5(COL5A1):c.996C>T (p.Asp332=) rs144763302 0.00058
NM_001367624.2(ZNF469):c.9555C>G (p.Ala3185=) rs273585636 0.00052
NM_001367624.2(ZNF469):c.5537C>T (p.Thr1846Met) rs539550777 0.00049
NM_000093.5(COL5A1):c.3906+20G>A rs148053413 0.00047
NM_000093.5(COL5A1):c.2751G>A (p.Pro917=) rs200319017 0.00044
NM_000093.5(COL5A1):c.2089-9C>T rs181246690 0.00041
NM_000093.5(COL5A1):c.1281G>A (p.Pro427=) rs147292897 0.00038
NM_000093.5(COL5A1):c.4683A>C (p.Gly1561=) rs149959668 0.00034
NM_000093.5(COL5A1):c.3006+17C>T rs140528268 0.00031
NM_001367624.2(ZNF469):c.11137C>T (p.Arg3713Cys) rs748126365 0.00026
NM_001367624.2(ZNF469):c.6179C>A (p.Ser2060Tyr) rs273585623 0.00026
NM_000093.5(COL5A1):c.5371-17G>A rs376639668 0.00025
NM_000093.5(COL5A1):c.4393-19C>T rs186732287 0.00024
NM_000093.5(COL5A1):c.1440C>T (p.Pro480=) rs150940930 0.00021
NM_000093.5(COL5A1):c.1774-7C>A rs371941850 0.00021
NM_000093.5(COL5A1):c.3888G>A (p.Pro1296=) rs375631252 0.00021
NM_000093.5(COL5A1):c.2844+20G>A rs200916696 0.00019
NM_000093.5(COL5A1):c.2799+11G>A rs377322092 0.00018
NM_000093.5(COL5A1):c.279G>A (p.Ala93=) rs145090868 0.00017
NM_000093.5(COL5A1):c.4383C>T (p.Pro1461=) rs368551709 0.00016
NM_000093.5(COL5A1):c.3114+12G>C rs528913410 0.00014
NM_000093.5(COL5A1):c.3291C>T (p.Ala1097=) rs371821655 0.00014
NM_000093.5(COL5A1):c.3906+19C>T rs571788196 0.00014
NM_000093.5(COL5A1):c.4308G>A (p.Pro1436=) rs200073020 0.00014
NM_000093.5(COL5A1):c.1967C>T (p.Pro656Leu) rs748345448 0.00013
NM_000093.5(COL5A1):c.4968C>T (p.Val1656=) rs201871481 0.00012
NM_000093.5(COL5A1):c.3528+19G>T rs200672136 0.00011
NM_000093.5(COL5A1):c.4941C>T (p.Pro1647=) rs747549921 0.00011
NM_000093.5(COL5A1):c.2386-7C>T rs746845504 0.00010
NM_000093.5(COL5A1):c.4659G>A (p.Pro1553=) rs368782334 0.00010
NM_000093.5(COL5A1):c.5034G>A (p.Ser1678=) rs148006741 0.00010
NM_000093.5(COL5A1):c.1935+12C>T rs368245632 0.00009
NM_000093.5(COL5A1):c.2134-11G>C rs369317619 0.00009
NM_000093.5(COL5A1):c.3691-9T>C rs187584029 0.00009
NM_000093.5(COL5A1):c.3744+19C>T rs200498760 0.00009
NM_000093.5(COL5A1):c.5469G>C (p.Ala1823=) rs367657505 0.00009
NM_000093.5(COL5A1):c.1495-11C>A rs199501759 0.00008
NM_000093.5(COL5A1):c.5250G>A (p.Val1750=) rs200348547 0.00008
NM_000093.5(COL5A1):c.-4C>G rs769694875 0.00007
NM_000093.5(COL5A1):c.5154C>T (p.Ala1718=) rs147434147 0.00007
NM_001367624.2(ZNF469):c.11244C>T (p.Ser3748=) rs936296523 0.00007
NM_000093.5(COL5A1):c.3906+14C>T rs377136680 0.00006
NM_000093.5(COL5A1):c.4231-9G>A rs570545638 0.00006
NM_000093.5(COL5A1):c.761C>T (p.Ser254Leu) rs144844792 0.00006
NM_000093.5(COL5A1):c.1143C>T (p.Ala381=) rs200245996 0.00005
NM_000093.5(COL5A1):c.2310T>A (p.Pro770=) rs377123592 0.00005
NM_000093.5(COL5A1):c.2593-15T>C rs747677530 0.00005
NM_000093.5(COL5A1):c.4812C>T (p.Tyr1604=) rs542783734 0.00005
NM_000093.5(COL5A1):c.12T>C (p.His4=) rs368818087 0.00004
NM_000093.5(COL5A1):c.2268C>T (p.Pro756=) rs367755808 0.00004
NM_000093.5(COL5A1):c.2997C>T (p.Val999=) rs201897490 0.00004
NM_000093.5(COL5A1):c.4374C>T (p.Asp1458=) rs201335857 0.00004
NM_000093.5(COL5A1):c.4473C>T (p.Ile1491=) rs537768945 0.00004
NM_000093.5(COL5A1):c.4803C>T (p.Tyr1601=) rs199637893 0.00004
NM_000093.5(COL5A1):c.3303C>T (p.Ile1101=) rs760754491 0.00003
NM_000093.5(COL5A1):c.5371-15C>T rs369764872 0.00003
NM_000093.5(COL5A1):c.1293G>T (p.Gly431=) rs373460629 0.00002
NM_000093.5(COL5A1):c.2485-11C>T rs756350498 0.00001
NM_000093.5(COL5A1):c.2817C>T (p.Asp939=) rs750716466 0.00001
NM_000093.5(COL5A1):c.4015-19C>T rs527971001 0.00001
NM_000093.5(COL5A1):c.*733C>A rs3196378
NM_000093.5(COL5A1):c.1191G>T (p.Ala397=) rs199755089
NM_000093.5(COL5A1):c.1333-3dup rs773903401
NM_000093.5(COL5A1):c.1390-18CT[3] rs863223441
NM_000093.5(COL5A1):c.1590C>T (p.Gly530=) rs769010469
NM_000093.5(COL5A1):c.1936-21G>A rs77716946
NM_000093.5(COL5A1):c.1977C>T (p.Asp659=) rs370766020
NM_000093.5(COL5A1):c.2592+16C>G rs145429817
NM_000093.5(COL5A1):c.2592+16C>T rs145429817
NM_000093.5(COL5A1):c.2800-18C>A rs73664144
NM_000093.5(COL5A1):c.2800-18C>T rs73664144
NM_000093.5(COL5A1):c.3528+46G>C rs3827850
NM_000093.5(COL5A1):c.3906+15G>A rs370937109
NM_000093.5(COL5A1):c.3906+15G>C rs370937109
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.4699-3del rs1554808051
NM_000393.5(COL5A2):c.2086-12del rs5837121
NM_000393.5(COL5A2):c.2661+20G>T rs79623676
NM_001129.5(AEBP1):c.863-37dup rs58863562
NM_001367624.2(ZNF469):c.10325G>C (p.Arg3442Thr) rs199528724
NM_001367624.2(ZNF469):c.10599C>T (p.Pro3533=) rs78022634
NM_001367624.2(ZNF469):c.1069T>C (p.Ser357Pro) rs11648572
NM_001367624.2(ZNF469):c.11406C>A (p.His3802Gln) rs141042464
NM_001367624.2(ZNF469):c.2625_2645del (p.Pro876_Gly882del) rs113102840
NM_001367624.2(ZNF469):c.2666C>T (p.Ala889Val) rs145186655
NM_001367624.2(ZNF469):c.3341G>T (p.Arg1114Leu) rs568046708
NM_001367624.2(ZNF469):c.5862C>T (p.Pro1954=) rs201666199
NM_001367624.2(ZNF469):c.6414G>T (p.Ser2138=) rs548774131
NM_001367624.2(ZNF469):c.6552G>T (p.Thr2184=) rs12919507
NM_001367624.2(ZNF469):c.8543A>G (p.Asp2848Gly) rs1457868844
NM_001367624.2(ZNF469):c.9095_9109del (p.Leu3032_Thr3036del) rs281865162
NM_004370.6(COL12A1):c.1892-19dup rs11347601
NM_007255.3(B4GALT7):c.413+60C>G rs28499092
NM_014244.5(ADAMTS2):c.1630-46G>A rs34369919
NM_014244.5(ADAMTS2):c.722G>A (p.Arg241His) rs11750821

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