ClinVar Miner

List of variants reported as benign for Ehlers-Danlos syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 258
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HGVS dbSNP gnomAD frequency
NM_000089.4(COL1A2):c.937-3C>T rs42519 0.81243
NM_000089.4(COL1A2):c.1645C>G (p.Pro549Ala) rs42524 0.80779
NM_001999.4(FBN2):c.2893G>A (p.Val965Ile) rs154001 0.68054
NM_000093.5(COL5A1):c.*1125A>T rs1134170 0.66610
NM_001365276.2(TNXB):c.3482A>G (p.His1161Arg) rs185819 0.51248
NM_004612.4(TGFBR1):c.*884A>G rs334348 0.28211
NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr) rs7551175 0.26545
NM_000090.4(COL3A1):c.2092G>A (p.Ala698Thr) rs1800255 0.21080
NM_004612.4(TGFBR1):c.*69A>G rs868 0.17222
NM_001365276.2(TNXB):c.2761T>G (p.Ser921Ala) rs204900 0.14952
NM_001365276.2(TNXB):c.7483G>A (p.Gly2495Ser) rs2269429 0.12889
NM_001367624.2(ZNF469):c.1285G>A (p.Ala429Thr) rs113937803 0.04541
NM_001365276.2(TNXB):c.7168+5G>A rs204885 0.04539
NM_000088.4(COL1A1):c.177G>T (p.Arg59=) rs1057297 0.04003
NM_001365276.2(TNXB):c.5713G>A (p.Glu1905Lys) rs17207923 0.03984
NM_014244.5(ADAMTS2):c.2730A>G (p.Pro910=) rs6869261 0.03924
NM_001365276.2(TNXB):c.9631C>G (p.Arg3211Gly) rs41270450 0.03853
NM_000093.5(COL5A1):c.4560C>T (p.Ile1520=) rs2228559 0.03652
NM_018699.4(PRDM5):c.849G>A (p.Gln283=) rs17051264 0.03566
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val) rs35874463 0.03414
NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser) rs35830636 0.03364
NM_001365276.2(TNXB):c.4241G>A (p.Arg1414Gln) rs9267799 0.03318
NM_001999.4(FBN2):c.203C>T (p.Ala68Val) rs62390671 0.03303
NM_000093.5(COL5A1):c.2892C>T (p.Gly964=) rs78511105 0.03168
NM_013352.4(DSE):c.53G>T (p.Cys18Phe) rs76186865 0.03160
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045 0.03116
NM_014244.5(ADAMTS2):c.1908C>T (p.His636=) rs1862211 0.02988
NM_003242.6(TGFBR2):c.1266A>G (p.Ala422=) rs2228047 0.02974
NM_001367624.2(ZNF469):c.8212G>A (p.Ala2738Thr) rs3812955 0.02902
NM_013352.4(DSE):c.844A>G (p.Ile282Val) rs34994230 0.02817
NM_014244.5(ADAMTS2):c.936C>T (p.Asn312=) rs35462609 0.02744
NM_000093.5(COL5A1):c.4230+6G>A rs77176843 0.02700
NM_000302.4(PLOD1):c.177C>T (p.Gly59=) rs34032489 0.02651
NM_000302.4(PLOD1):c.250G>A (p.Ala84Thr) rs34878020 0.02621
NM_014244.5(ADAMTS2):c.2480G>A (p.Arg827Gln) rs35445112 0.02575
NM_000093.5(COL5A1):c.4393-9C>T rs11792181 0.02555
NM_003242.6(TGFBR2):c.999A>G (p.Leu333=) rs2229102 0.02537
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_001365276.2(TNXB):c.7377C>T (p.Gly2459=) rs59619270 0.02517
NM_001365276.2(TNXB):c.4332C>T (p.His1444=) rs61998168 0.02515
NM_001999.4(FBN2):c.8733C>G (p.Leu2911=) rs34383505 0.02500
NM_001367624.2(ZNF469):c.1827G>A (p.Ser609=) rs148616993 0.02438
NM_001999.4(FBN2):c.4098A>C (p.Thr1366=) rs28763943 0.02427
NM_018699.4(PRDM5):c.660G>A (p.Gln220=) rs74320998 0.02419
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_014244.5(ADAMTS2):c.701A>G (p.Asp234Gly) rs59567206 0.02208
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_001365276.2(TNXB):c.9641G>T (p.Gly3214Val) rs9267795 0.02152
NM_000302.4(PLOD1):c.1788G>T (p.Val596=) rs35460537 0.02126
NM_000302.4(PLOD1):c.2133C>G (p.Leu711=) rs879691 0.02109
NM_001365276.2(TNXB):c.9050A>G (p.Lys3017Arg) rs17207895 0.02019
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_018699.4(PRDM5):c.1066T>A (p.Ser356Thr) rs140634372 0.01952
NM_017946.4(FKBP14):c.165C>T (p.Tyr55=) rs17150692 0.01889
NM_000302.4(PLOD1):c.540G>A (p.Gln180=) rs35958757 0.01887
NM_001999.4(FBN2):c.3015G>A (p.Leu1005=) rs28763946 0.01862
NM_000090.4(COL3A1):c.1257C>T (p.Ala419=) rs41272837 0.01840
NM_001365276.2(TNXB):c.1734C>T (p.Asp578=) rs41270458 0.01827
NM_001365276.2(TNXB):c.3380A>G (p.Lys1127Arg) rs61910712 0.01812
NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala) rs35852101 0.01792
NM_001367624.2(ZNF469):c.5697C>T (p.Ser1899=) rs111986360 0.01774
NM_001365276.2(TNXB):c.5823C>T (p.Ser1941=) rs116094055 0.01719
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu) rs76148000 0.01714
NM_001365276.2(TNXB):c.517G>A (p.Ala173Thr) rs61746206 0.01620
NM_001367624.2(ZNF469):c.3894G>C (p.Val1298=) rs115790991 0.01614
NM_001365276.2(TNXB):c.11387-9T>C rs2894233 0.01611
NM_000393.5(COL5A2):c.4449C>T (p.Gly1483=) rs78905646 0.01586
NM_000393.5(COL5A2):c.1006-9C>T rs73978832 0.01552
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu) rs116298748 0.01542
NM_000090.4(COL3A1):c.1770T>C (p.Pro590=) rs80302667 0.01481
NM_000093.5(COL5A1):c.5068-7T>C rs113256540 0.01472
NM_005902.4(SMAD3):c.870C>T (p.Ile290=) rs117185005 0.01464
NM_001365276.2(TNXB):c.3191G>A (p.Arg1064His) rs61995676 0.01344
NM_001367624.2(ZNF469):c.3125G>A (p.Arg1042Gln) rs181077813 0.01341
NM_000088.4(COL1A1):c.298+7C>A rs41317345 0.01333
NM_001365276.2(TNXB):c.5679G>A (p.Thr1893=) rs115612382 0.01326
NM_001365276.2(TNXB):c.3419G>A (p.Gly1140Asp) rs149995364 0.01305
NM_000093.5(COL5A1):c.2799+4T>C rs75815945 0.01279
NM_001128225.3(SLC39A13):c.119G>A (p.Arg40Gln) rs35741412 0.01241
NM_007255.3(B4GALT7):c.297G>T (p.Val99=) rs114036939 0.01155
NM_001367624.2(ZNF469):c.2574G>C (p.Pro858=) rs74384633 0.01153
NM_018699.4(PRDM5):c.491A>T (p.Lys164Ile) rs146268537 0.01143
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_001365276.2(TNXB):c.9672G>A (p.Leu3224=) rs61740331 0.01104
NM_001365276.2(TNXB):c.4848G>A (p.Gly1616=) rs190967484 0.01043
NM_001365276.2(TNXB):c.8132T>C (p.Ile2711Thr) rs28361051 0.01025
NM_001367624.2(ZNF469):c.4926G>A (p.Ser1642=) rs117310292 0.00992
NM_000052.7(ATP7A):c.327G>A (p.Lys109=) rs61747968 0.00978
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_014244.5(ADAMTS2):c.1803G>A (p.Ser601=) rs76754323 0.00928
NM_014244.5(ADAMTS2):c.1993G>A (p.Gly665Arg) rs35372714 0.00904
NM_001999.4(FBN2):c.1466-5C>T rs28763952 0.00887
NM_001365276.2(TNXB):c.9849G>A (p.Thr3283=) rs147118175 0.00874
NM_001365276.2(TNXB):c.8601C>T (p.Pro2867=) rs61740712 0.00867
NM_001365276.2(TNXB):c.4484C>T (p.Thr1495Ile) rs6910390 0.00842
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys) rs56168072 0.00832
NM_018699.4(PRDM5):c.1273A>G (p.Ile425Val) rs75893420 0.00830
NM_000088.4(COL1A1):c.1803C>T (p.Pro601=) rs148275339 0.00788
NM_001999.4(FBN2):c.3166G>T (p.Ala1056Ser) rs28763945 0.00784
NM_000393.5(COL5A2):c.975C>T (p.Pro325=) rs144344474 0.00770
NM_001367624.2(ZNF469):c.10361G>A (p.Arg3454Gln) rs75288466 0.00769
NM_000088.4(COL1A1):c.1821C>T (p.Val607=) rs41316667 0.00750
NM_014244.5(ADAMTS2):c.68T>C (p.Leu23Pro) rs565885690 0.00707
NM_001365276.2(TNXB):c.10554C>T (p.Tyr3518=) rs115065067 0.00690
NM_000088.4(COL1A1):c.904-9G>T rs141726413 0.00680
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr) rs117524265 0.00674
NM_000302.4(PLOD1):c.1141G>A (p.Val381Met) rs2230896 0.00668
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954 0.00654
NM_001999.4(FBN2):c.8154C>T (p.Leu2718=) rs34119447 0.00635
NM_001367624.2(ZNF469):c.1471G>A (p.Ala491Thr) rs117555121 0.00632
NM_001999.4(FBN2):c.629-9A>G rs56025995 0.00616
NM_000090.4(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773 0.00608
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_001999.4(FBN2):c.3762C>T (p.Asp1254=) rs2279582 0.00570
NM_000089.4(COL1A2):c.948C>T (p.Gly316=) rs34511999 0.00566
NM_014244.5(ADAMTS2):c.1629+9G>A rs115550684 0.00560
NM_001365276.2(TNXB):c.1469G>A (p.Arg490Gln) rs118086587 0.00554
NM_001367624.2(ZNF469):c.2717C>T (p.Pro906Leu) rs77951481 0.00528
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175 0.00525
NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890 0.00513
NM_013352.4(DSE):c.711G>C (p.Leu237=) rs140034597 0.00484
NM_001367624.2(ZNF469):c.62G>A (p.Arg21His) rs145178398 0.00473
NM_000088.4(COL1A1):c.3243T>C (p.Val1081=) rs1800217 0.00465
NM_000090.4(COL3A1):c.2022+5T>C rs41263765 0.00448
NM_000090.4(COL3A1):c.1659T>A (p.Pro553=) rs41263751 0.00443
NM_000090.4(COL3A1):c.3654G>T (p.Pro1218=) rs35759441 0.00430
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886 0.00427
NM_014244.5(ADAMTS2):c.1458C>T (p.Tyr486=) rs61757478 0.00427
NM_001365276.2(TNXB):c.6348C>T (p.Thr2116=) rs143840297 0.00419
NM_001365276.2(TNXB):c.1837A>G (p.Ser613Gly) rs61744970 0.00418
NM_001365276.2(TNXB):c.6683T>A (p.Phe2228Tyr) rs3749960 0.00418
NM_001365276.2(TNXB):c.2367G>A (p.Gly789=) rs117182156 0.00399
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=) rs35346129 0.00388
NM_001999.4(FBN2):c.6511+5G>A rs200608284 0.00363
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu) rs10482810 0.00359
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_001365276.2(TNXB):c.11417A>G (p.Gln3806Arg) rs2395085 0.00337
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala) rs72667032 0.00331
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756 0.00328
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn) rs78727187 0.00327
NM_001365276.2(TNXB):c.3445+8A>G rs201624002 0.00326
NM_014244.5(ADAMTS2):c.2751-4G>A rs112155474 0.00324
NM_001365276.2(TNXB):c.4562C>T (p.Ala1521Val) rs146120469 0.00321
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_001365276.2(TNXB):c.6811G>C (p.Val2271Leu) rs140770834 0.00309
NM_000393.5(COL5A2):c.198T>C (p.Asn66=) rs76511879 0.00306
NM_003238.6(TGFB2):c.272G>A (p.Arg91His) rs10482721 0.00297
NM_001365276.2(TNXB):c.10060C>T (p.Pro3354Ser) rs140530599 0.00296
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780 0.00288
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926 0.00287
NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=) rs1800219 0.00281
NM_001365276.2(TNXB):c.6544+8T>A rs150379644 0.00278
NM_013352.4(DSE):c.209G>A (p.Arg70His) rs147683614 0.00278
NM_000393.5(COL5A2):c.2032-7G>A rs141571092 0.00265
NM_000088.4(COL1A1):c.1984-5C>A rs66592376 0.00249
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=) rs148430780 0.00245
NM_000090.4(COL3A1):c.1927T>C (p.Leu643=) rs41263757 0.00244
NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=) rs146100075 0.00235
NM_001367624.2(ZNF469):c.10327G>C (p.Gly3443Arg) rs532857190 0.00223
NM_000089.4(COL1A2):c.594+5A>T rs200744314 0.00220
NM_001365276.2(TNXB):c.8598C>T (p.Val2866=) rs141752970 0.00202
NM_001365276.2(TNXB):c.5937C>T (p.Thr1979=) rs3749963 0.00200
NM_001365276.2(TNXB):c.9438G>A (p.Thr3146=) rs202162469 0.00200
NM_001999.4(FBN2):c.738G>A (p.Ala246=) rs150087436 0.00200
NM_001365276.2(TNXB):c.6513C>T (p.Arg2171=) rs117336748 0.00198
NM_001365276.2(TNXB):c.8594T>C (p.Met2865Thr) rs373158501 0.00198
NM_001365276.2(TNXB):c.9643G>A (p.Glu3215Lys) rs2075563 0.00198
NM_001365276.2(TNXB):c.4885G>A (p.Glu1629Lys) rs78493656 0.00197
NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=) rs113194608 0.00194
NM_000093.5(COL5A1):c.378G>T (p.Gln126His) rs145178917 0.00192
NM_000088.4(COL1A1):c.3531+10C>A rs41316721 0.00179
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln) rs112185887 0.00176
NM_003242.6(TGFBR2):c.1602G>A (p.Val534=) rs140818646 0.00166
NM_000089.4(COL1A2):c.2078G>A (p.Arg693Gln) rs34147460 0.00159
NM_000090.4(COL3A1):c.3613A>G (p.Ile1205Val) rs2271683 0.00158
NM_001999.4(FBN2):c.2940C>T (p.Cys980=) rs143255082 0.00158
NM_001999.4(FBN2):c.5448A>G (p.Pro1816=) rs138022198 0.00158
NM_001999.4(FBN2):c.953-8T>G rs201818403 0.00152
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927 0.00137
NM_001999.4(FBN2):c.8364+7A>T rs185052980 0.00134
NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser) rs139189200 0.00133
NM_000093.5(COL5A1):c.193C>T (p.Arg65Trp) rs139468527 0.00124
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met) rs145850743 0.00118
NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile) rs56014374 0.00115
NM_000393.5(COL5A2):c.261G>A (p.Thr87=) rs142044596 0.00108
NM_014244.5(ADAMTS2):c.220G>A (p.Val74Met) rs2271211 0.00108
NM_000093.5(COL5A1):c.3855C>T (p.Gly1285=) rs139544503 0.00102
NM_003238.6(TGFB2):c.114G>A (p.Glu38=) rs149215818 0.00087
NM_001367624.2(ZNF469):c.946G>A (p.Glu316Lys) rs368772806 0.00085
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783 0.00083
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090 0.00081
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=) rs146662880 0.00076
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val) rs2234938 0.00066
NM_000393.5(COL5A2):c.186T>C (p.Cys62=) rs142832916 0.00066
NM_001365276.2(TNXB):c.6608G>A (p.Arg2203Lys) rs150876029 0.00049
NM_000088.4(COL1A1):c.3123C>T (p.Pro1041=) rs145608939 0.00042
NM_001999.4(FBN2):c.7012+7G>A rs199735209 0.00042
NM_000052.7(ATP7A):c.864T>C (p.Cys288=) rs142521666 0.00036
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812 0.00034
NM_001999.4(FBN2):c.5670T>C (p.Cys1890=) rs74811638 0.00022
NM_000093.5(COL5A1):c.3888G>A (p.Pro1296=) rs375631252 0.00021
NM_000088.4(COL1A1):c.957+10C>A rs376179885 0.00020
NM_001365276.2(TNXB):c.9661G>A (p.Val3221Met) rs367685759 0.00019
NM_000052.7(ATP7A):c.312A>G (p.Gln104=) rs146414063 0.00014
NM_001999.4(FBN2):c.2252A>C (p.Glu751Ala) rs147610681 0.00013
NM_001999.4(FBN2):c.2625T>C (p.Cys875=) rs371502563 0.00012
NM_000088.4(COL1A1):c.144T>A (p.His48Gln) rs374065372 0.00011
NM_000093.5(COL5A1):c.1888C>T (p.Arg630Trp) rs577618553 0.00011
NM_001999.4(FBN2):c.6285A>G (p.Arg2095=) rs28763933 0.00011
NM_001999.4(FBN2):c.4298G>A (p.Arg1433His) rs143462011 0.00007
NM_001999.4(FBN2):c.8351C>T (p.Pro2784Leu) rs144574441 0.00007
NM_001999.4(FBN2):c.7690C>G (p.Gln2564Glu) rs373970388 0.00006
NM_000302.4(PLOD1):c.509A>T (p.Glu170Val) rs554232128 0.00003
NM_000090.4(COL3A1):c.1509+7A>C rs201740954 0.00001
NM_001999.4(FBN2):c.5487C>T (p.Gly1829=) rs375136629 0.00001
NM_001999.4(FBN2):c.778C>G (p.Pro260Ala) rs774323549 0.00001
NM_000088.4(COL1A1):c.1300-8C>G rs41317361
NM_000088.4(COL1A1):c.1300-8C>T rs41317361
NM_000088.4(COL1A1):c.1983+9G>T rs201091992
NM_000088.4(COL1A1):c.3046-20CT[10] rs138425306
NM_000089.4(COL1A2):c.1252-7del rs35587403
NM_000093.5(COL5A1):c.*733C>A rs3196378
NM_000093.5(COL5A1):c.1224G>C (p.Thr408=) rs139406076
NM_000093.5(COL5A1):c.4482G>A (p.Pro1494=) rs2228560
NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn) rs142978362
NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met) rs140574574
NM_001365276.2(TNXB):c.12224G>A (p.Arg4075His) rs201510617
NM_001365276.2(TNXB):c.6902C>A (p.Pro2301His) rs2269428
NM_001365276.2(TNXB):c.8542G>A (p.Gly2848Arg) rs61745355
NM_001365276.2(TNXB):c.8845C>A (p.Pro2949Thr) rs149492184
NM_001365276.2(TNXB):c.9440-12_9440-10del rs199828189
NM_001367624.2(ZNF469):c.10325G>C (p.Arg3442Thr) rs199528724
NM_001367624.2(ZNF469):c.10326G>C (p.Arg3442Ser) rs56236932
NM_001367624.2(ZNF469):c.10328G>T (p.Gly3443Val) rs140056980
NM_001367624.2(ZNF469):c.10599C>T (p.Pro3533=) rs78022634
NM_001367624.2(ZNF469):c.2666C>T (p.Ala889Val) rs145186655
NM_001999.4(FBN2):c.1543T>A (p.Ser515Thr) rs528255772
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=) rs17608368
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.575-9dup rs863223798
NM_013352.4(DSE):c.2619_2621del (p.Gly874del) rs111252008
NM_014244.5(ADAMTS2):c.1308G>A (p.Ala436=) rs41285549
NM_014244.5(ADAMTS2):c.47TGC[7] (p.Leu23del) rs568040559

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