ClinVar Miner

List of variants reported as uncertain significance for Ehlers-Danlos syndrome, dermatosparaxis type by Natera, Inc.

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 143
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HGVS dbSNP gnomAD frequency
NM_014244.5(ADAMTS2):c.2846A>C (p.Asn949Thr) rs376054177 0.00353
NM_014244.5(ADAMTS2):c.1816G>A (p.Asp606Asn) rs138399615 0.00033
NM_014244.5(ADAMTS2):c.2818G>A (p.Val940Met) rs367796431 0.00024
NM_014244.5(ADAMTS2):c.1769A>C (p.Asn590Thr) rs145336133 0.00022
NM_014244.5(ADAMTS2):c.3343G>A (p.Asp1115Asn) rs200022037 0.00020
NM_014244.5(ADAMTS2):c.3352G>A (p.Val1118Met) rs148717330 0.00020
NM_014244.5(ADAMTS2):c.1629+6G>A rs377268307 0.00016
NM_014244.5(ADAMTS2):c.2110G>A (p.Gly704Ser) rs149708395 0.00013
NM_014244.5(ADAMTS2):c.991G>A (p.Glu331Lys) rs17667857 0.00012
NM_014244.5(ADAMTS2):c.1903G>A (p.Glu635Lys) rs371099308 0.00011
NM_014244.5(ADAMTS2):c.562G>C (p.Glu188Gln) rs146064587 0.00011
NM_014244.5(ADAMTS2):c.710A>C (p.Asp237Ala) rs202197821 0.00011
NM_014244.5(ADAMTS2):c.1909G>A (p.Gly637Ser) rs201864255 0.00010
NM_014244.5(ADAMTS2):c.2085+8C>A rs199825726 0.00010
NM_014244.5(ADAMTS2):c.935A>G (p.Asn312Ser) rs528367185 0.00010
NM_014244.5(ADAMTS2):c.2633A>G (p.Lys878Arg) rs374211371 0.00008
NM_014244.5(ADAMTS2):c.709G>T (p.Asp237Tyr) rs768334305 0.00008
NM_014244.5(ADAMTS2):c.2100C>T (p.Asp700=) rs560354978 0.00007
NM_014244.5(ADAMTS2):c.373C>T (p.Arg125Trp) rs535594659 0.00007
NM_014244.5(ADAMTS2):c.1511C>T (p.Thr504Met) rs765595538 0.00006
NM_014244.5(ADAMTS2):c.2036G>A (p.Arg679His) rs144554943 0.00006
NM_014244.5(ADAMTS2):c.2492C>T (p.Thr831Met) rs7705437 0.00006
NM_014244.5(ADAMTS2):c.3545G>A (p.Arg1182Gln) rs140845527 0.00006
NM_014244.5(ADAMTS2):c.638G>A (p.Arg213His) rs369215593 0.00006
NM_014244.5(ADAMTS2):c.1430C>T (p.Ala477Val) rs370614125 0.00005
NM_014244.5(ADAMTS2):c.1911C>T (p.Gly637=) rs142275705 0.00005
NM_014244.5(ADAMTS2):c.2689G>A (p.Ala897Thr) rs748245637 0.00005
NM_014244.5(ADAMTS2):c.3038A>C (p.Gln1013Pro) rs371013989 0.00005
NM_014244.5(ADAMTS2):c.411G>A (p.Met137Ile) rs777436451 0.00005
NM_014244.5(ADAMTS2):c.547C>T (p.Arg183Trp) rs372225444 0.00005
NM_014244.5(ADAMTS2):c.721C>T (p.Arg241Cys) rs140045997 0.00005
NM_014244.5(ADAMTS2):c.859G>A (p.Val287Ile) rs148737005 0.00005
NM_014244.5(ADAMTS2):c.102C>A (p.Pro34=) rs1402048390 0.00004
NM_014244.5(ADAMTS2):c.110C>T (p.Ala37Val) rs1057524401 0.00004
NM_014244.5(ADAMTS2):c.1520G>A (p.Arg507Gln) rs148263300 0.00004
NM_014244.5(ADAMTS2):c.169A>G (p.Ile57Val) rs768252348 0.00004
NM_014244.5(ADAMTS2):c.2230A>G (p.Ile744Val) rs201241062 0.00004
NM_014244.5(ADAMTS2):c.2293G>A (p.Val765Ile) rs777314559 0.00004
NM_014244.5(ADAMTS2):c.3376C>A (p.Pro1126Thr) rs557070498 0.00004
NM_014244.5(ADAMTS2):c.599C>T (p.Ala200Val) rs749842975 0.00004
NM_014244.5(ADAMTS2):c.847G>A (p.Gly283Arg) rs376856341 0.00004
NM_014244.5(ADAMTS2):c.976-10C>A rs973000351 0.00004
NM_014244.5(ADAMTS2):c.143G>A (p.Gly48Glu) rs1019548575 0.00003
NM_014244.5(ADAMTS2):c.1802C>T (p.Ser601Leu) rs778186590 0.00003
NM_014244.5(ADAMTS2):c.2086-3C>T rs756427989 0.00003
NM_014244.5(ADAMTS2):c.2720C>T (p.Ala907Val) rs141654276 0.00003
NM_014244.5(ADAMTS2):c.2835G>A (p.Pro945=) rs768390657 0.00003
NM_014244.5(ADAMTS2):c.2958+5G>A rs370239549 0.00003
NM_014244.5(ADAMTS2):c.3121G>C (p.Val1041Leu) rs778184902 0.00003
NM_014244.5(ADAMTS2):c.3232C>T (p.Arg1078Cys) rs755578308 0.00003
NM_014244.5(ADAMTS2):c.3303C>T (p.Asn1101=) rs766731589 0.00003
NM_014244.5(ADAMTS2):c.3547C>T (p.Arg1183Ter) rs781618824 0.00003
NM_014244.5(ADAMTS2):c.40C>T (p.Pro14Ser) rs918053466 0.00003
NM_014244.5(ADAMTS2):c.641G>A (p.Arg214Gln) rs763524702 0.00003
NM_014244.5(ADAMTS2):c.773G>A (p.Arg258His) rs1057524562 0.00003
NM_014244.5(ADAMTS2):c.891+9G>A rs749508251 0.00003
NM_014244.5(ADAMTS2):c.8C>T (p.Pro3Leu) rs1407363425 0.00003
NM_014244.5(ADAMTS2):c.1208C>T (p.Ala403Val) rs756455382 0.00002
NM_014244.5(ADAMTS2):c.1684G>A (p.Gly562Ser) rs757782312 0.00002
NM_014244.5(ADAMTS2):c.1793G>A (p.Arg598His) rs1304320729 0.00002
NM_014244.5(ADAMTS2):c.1946G>A (p.Arg649Gln) rs766541864 0.00002
NM_014244.5(ADAMTS2):c.2243C>T (p.Ala748Val) rs780473688 0.00002
NM_014244.5(ADAMTS2):c.2398G>A (p.Glu800Lys) rs747447840 0.00002
NM_014244.5(ADAMTS2):c.2533G>C (p.Asp845His) rs76488852 0.00002
NM_014244.5(ADAMTS2):c.2558C>G (p.Ser853Cys) rs1057521585 0.00002
NM_014244.5(ADAMTS2):c.269C>T (p.Ala90Val) rs1044141398 0.00002
NM_014244.5(ADAMTS2):c.2812C>T (p.Arg938Cys) rs1302357894 0.00002
NM_014244.5(ADAMTS2):c.2884G>A (p.Ala962Thr) rs773669935 0.00002
NM_014244.5(ADAMTS2):c.2903G>A (p.Arg968Gln) rs777490675 0.00002
NM_014244.5(ADAMTS2):c.3337C>T (p.His1113Tyr) rs372096858 0.00002
NM_014244.5(ADAMTS2):c.653C>T (p.Ser218Phe) rs781630569 0.00002
NM_014244.5(ADAMTS2):c.655C>T (p.Pro219Ser) rs146217716 0.00002
NM_014244.5(ADAMTS2):c.-2C>A rs1757919556 0.00001
NM_014244.5(ADAMTS2):c.1030C>T (p.Arg344Cys) rs751283120 0.00001
NM_014244.5(ADAMTS2):c.1069G>A (p.Asp357Asn) rs763890617 0.00001
NM_014244.5(ADAMTS2):c.109G>A (p.Ala37Thr) rs1001487005 0.00001
NM_014244.5(ADAMTS2):c.115C>T (p.Leu39Phe) rs1064796637 0.00001
NM_014244.5(ADAMTS2):c.1163C>T (p.Pro388Leu) rs762460815 0.00001
NM_014244.5(ADAMTS2):c.1264G>A (p.Gly422Ser) rs200813745 0.00001
NM_014244.5(ADAMTS2):c.1278C>T (p.Gly426=) rs746088783 0.00001
NM_014244.5(ADAMTS2):c.138A>G (p.Pro46=) rs1181728258 0.00001
NM_014244.5(ADAMTS2):c.1413C>T (p.Phe471=) rs751565994 0.00001
NM_014244.5(ADAMTS2):c.1420G>A (p.Asp474Asn) rs750225306 0.00001
NM_014244.5(ADAMTS2):c.1427C>T (p.Pro476Leu) rs762123346 0.00001
NM_014244.5(ADAMTS2):c.1565A>G (p.Asn522Ser) rs1243941175 0.00001
NM_014244.5(ADAMTS2):c.1723C>T (p.Arg575Cys) rs1212597027 0.00001
NM_014244.5(ADAMTS2):c.1867C>T (p.Arg623Cys) rs752401488 0.00001
NM_014244.5(ADAMTS2):c.2191C>T (p.Arg731Trp) rs997669873 0.00001
NM_014244.5(ADAMTS2):c.2218A>G (p.Lys740Glu) rs946826671 0.00001
NM_014244.5(ADAMTS2):c.2261A>G (p.Gln754Arg) rs779256197 0.00001
NM_014244.5(ADAMTS2):c.2279G>C (p.Ser760Thr) rs781493524 0.00001
NM_014244.5(ADAMTS2):c.2305G>C (p.Glu769Gln) rs867147371 0.00001
NM_014244.5(ADAMTS2):c.2414C>T (p.Thr805Met) rs370350117 0.00001
NM_014244.5(ADAMTS2):c.2479C>T (p.Arg827Trp) rs376995938 0.00001
NM_014244.5(ADAMTS2):c.2615G>T (p.Gly872Val) rs1338541722 0.00001
NM_014244.5(ADAMTS2):c.2648G>A (p.Arg883Gln) rs772028555 0.00001
NM_014244.5(ADAMTS2):c.2794C>T (p.Arg932Trp) rs776975672 0.00001
NM_014244.5(ADAMTS2):c.2902C>T (p.Arg968Trp) rs1473580610 0.00001
NM_014244.5(ADAMTS2):c.295G>A (p.Gly99Arg) rs553818378 0.00001
NM_014244.5(ADAMTS2):c.2980G>A (p.Gly994Ser) rs142429109 0.00001
NM_014244.5(ADAMTS2):c.303C>A (p.Asn101Lys) rs373406403 0.00001
NM_014244.5(ADAMTS2):c.3064A>T (p.Thr1022Ser) rs1434954526 0.00001
NM_014244.5(ADAMTS2):c.3116G>A (p.Ser1039Asn) rs771197106 0.00001
NM_014244.5(ADAMTS2):c.3151G>A (p.Asp1051Asn) rs1252240288 0.00001
NM_014244.5(ADAMTS2):c.3178+4A>G rs948167718 0.00001
NM_014244.5(ADAMTS2):c.3258C>G (p.Asn1086Lys) rs1762622678 0.00001
NM_014244.5(ADAMTS2):c.3318A>G (p.Ile1106Met) rs773167287 0.00001
NM_014244.5(ADAMTS2):c.3503A>G (p.His1168Arg) rs141541318 0.00001
NM_014244.5(ADAMTS2):c.3544C>T (p.Arg1182Ter) rs367553801 0.00001
NM_014244.5(ADAMTS2):c.3606G>A (p.Met1202Ile) rs1278681689 0.00001
NM_014244.5(ADAMTS2):c.3608G>A (p.Arg1203Gln) rs772059202 0.00001
NM_014244.5(ADAMTS2):c.3625G>A (p.Gly1209Arg) rs769813298 0.00001
NM_014244.5(ADAMTS2):c.442G>A (p.Val148Met) rs780603629 0.00001
NM_014244.5(ADAMTS2):c.926C>T (p.Ala309Val) rs1253197089 0.00001
NM_014244.5(ADAMTS2):c.996C>T (p.Ile332=) rs767485549 0.00001
NM_014244.5(ADAMTS2):c.1373G>A (p.Arg458His) rs768230986
NM_014244.5(ADAMTS2):c.1683C>A (p.Asp561Glu) rs368700721
NM_014244.5(ADAMTS2):c.1776C>A (p.His592Gln) rs1561773783
NM_014244.5(ADAMTS2):c.183C>G (p.Pro61=) rs375775300
NM_014244.5(ADAMTS2):c.1977C>T (p.Cys659=) rs758599662
NM_014244.5(ADAMTS2):c.200A>G (p.Gln67Arg) rs745588970
NM_014244.5(ADAMTS2):c.2530GAC[1] (p.Asp845del) rs779695756
NM_014244.5(ADAMTS2):c.2780G>A (p.Ser927Asn) rs1193602528
NM_014244.5(ADAMTS2):c.2834C>T (p.Pro945Leu) rs200309353
NM_014244.5(ADAMTS2):c.2842_2844del (p.Asp948del) rs765659887
NM_014244.5(ADAMTS2):c.2959-7C>G rs748783596
NM_014244.5(ADAMTS2):c.3012C>G (p.Thr1004=) rs571054777
NM_014244.5(ADAMTS2):c.3080C>T (p.Pro1027Leu) rs1340671554
NM_014244.5(ADAMTS2):c.337G>A (p.Val113Ile) rs1757858860
NM_014244.5(ADAMTS2):c.3380C>T (p.Thr1127Ile) rs368462217
NM_014244.5(ADAMTS2):c.346T>G (p.Phe116Val) rs1232899709
NM_014244.5(ADAMTS2):c.3480C>G (p.Ala1160=) rs34437036
NM_014244.5(ADAMTS2):c.3490C>T (p.Pro1164Ser) rs776115866
NM_014244.5(ADAMTS2):c.3503A>C (p.His1168Pro) rs141541318
NM_014244.5(ADAMTS2):c.47TGC[12] (p.Leu20_Leu23dup) rs568040559
NM_014244.5(ADAMTS2):c.51_52insTTG (p.Leu23dup) rs1365580904
NM_014244.5(ADAMTS2):c.656C>G (p.Pro219Arg) rs1766583475
NM_014244.5(ADAMTS2):c.699GGACAGCCT[3] (p.234DSL[3]) rs778523767
NM_014244.5(ADAMTS2):c.71CGC[2] (p.Pro26del) rs763392299
NM_014244.5(ADAMTS2):c.71CGC[5] (p.Pro25_Pro26dup) rs763392299
NM_014244.5(ADAMTS2):c.789C>G (p.Asp263Glu) rs144235544
NM_014244.5(ADAMTS2):c.80_94del (p.22_26LLPPP[1]) rs1041304220
NM_014244.5(ADAMTS2):c.84GCC[8] (p.Pro33_Pro34dup) rs770212030

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