ClinVar Miner

List of variants in gene ADAMTS2 studied for Ehlers-Danlos syndrome

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 239
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HGVS dbSNP
NC_000005.9:g.(?_178770748)_(178772349_?)dup
NM_014244.5(ADAMTS2):c.*1247C>T rs77506744
NM_014244.5(ADAMTS2):c.*1361A>G rs142875628
NM_014244.5(ADAMTS2):c.*1437_*1438del rs375426260
NM_014244.5(ADAMTS2):c.*1446dup rs151062906
NM_014244.5(ADAMTS2):c.*1468A>G rs2059776
NM_014244.5(ADAMTS2):c.*1486C>A rs1863918
NM_014244.5(ADAMTS2):c.*1573A>C rs560216364
NM_014244.5(ADAMTS2):c.*1579_*1585del rs539443462
NM_014244.5(ADAMTS2):c.*1586A>G rs888760
NM_014244.5(ADAMTS2):c.*1639C>T rs138971097
NM_014244.5(ADAMTS2):c.*1747A>C rs886060486
NM_014244.5(ADAMTS2):c.*1797C>T rs553329835
NM_014244.5(ADAMTS2):c.*1819G>A rs115989271
NM_014244.5(ADAMTS2):c.*181C>T rs886060489
NM_014244.5(ADAMTS2):c.*183T>C rs184732586
NM_014244.5(ADAMTS2):c.*1919T>G rs574968586
NM_014244.5(ADAMTS2):c.*1941C>T rs886060485
NM_014244.5(ADAMTS2):c.*2064A>G rs759155545
NM_014244.5(ADAMTS2):c.*212A>C rs10479525
NM_014244.5(ADAMTS2):c.*2147C>T rs886060484
NM_014244.5(ADAMTS2):c.*2196T>A rs147985762
NM_014244.5(ADAMTS2):c.*222C>T rs886060488
NM_014244.5(ADAMTS2):c.*2270C>T rs886060483
NM_014244.5(ADAMTS2):c.*2301C>T rs115104288
NM_014244.5(ADAMTS2):c.*2396C>T rs3797615
NM_014244.5(ADAMTS2):c.*2439C>T rs78886769
NM_014244.5(ADAMTS2):c.*2440G>A rs546192004
NM_014244.5(ADAMTS2):c.*2587T>C rs140304884
NM_014244.5(ADAMTS2):c.*2589T>G rs886060482
NM_014244.5(ADAMTS2):c.*2595C>T rs188054405
NM_014244.5(ADAMTS2):c.*2598A>G rs371733200
NM_014244.5(ADAMTS2):c.*2724A>G rs886060481
NM_014244.5(ADAMTS2):c.*2853G>A rs565652629
NM_014244.5(ADAMTS2):c.*2854T>C rs11740156
NM_014244.5(ADAMTS2):c.*288G>A rs59090242
NM_014244.5(ADAMTS2):c.*2918G>A rs60250623
NM_014244.5(ADAMTS2):c.*2923_*2925AAC[1] rs886060480
NM_014244.5(ADAMTS2):c.*2951G>A rs1044205
NM_014244.5(ADAMTS2):c.*2951_*2952delinsAA rs386695575
NM_014244.5(ADAMTS2):c.*2952T>A rs1044209
NM_014244.5(ADAMTS2):c.*353C>T rs886060487
NM_014244.5(ADAMTS2):c.*445G>A rs73806886
NM_014244.5(ADAMTS2):c.*707A>G rs149592164
NM_014244.5(ADAMTS2):c.*816C>T rs116130524
NM_014244.5(ADAMTS2):c.*842T>C rs10038484
NM_014244.5(ADAMTS2):c.*843G>A rs778909760
NM_014244.5(ADAMTS2):c.*847C>T rs78622875
NM_014244.5(ADAMTS2):c.*853G>T rs17666900
NM_014244.5(ADAMTS2):c.*977G>A rs138084603
NM_014244.5(ADAMTS2):c.-13C>A rs886060499
NM_014244.5(ADAMTS2):c.-45T>C rs886060500
NM_014244.5(ADAMTS2):c.102C>A (p.Pro34=)
NM_014244.5(ADAMTS2):c.1030C>T (p.Arg344Cys)
NM_014244.5(ADAMTS2):c.1069G>A (p.Asp357Asn) rs763890617
NM_014244.5(ADAMTS2):c.110C>T (p.Ala37Val) rs1057524401
NM_014244.5(ADAMTS2):c.1123G>A (p.Gly375Ser) rs886060494
NM_014244.5(ADAMTS2):c.1149C>T (p.Thr383=) rs199664723
NM_014244.5(ADAMTS2):c.115C>T (p.Leu39Phe) rs1064796637
NM_014244.5(ADAMTS2):c.1163C>T (p.Pro388Leu)
NM_014244.5(ADAMTS2):c.1164G>A (p.Pro388=) rs141348218
NM_014244.5(ADAMTS2):c.1194C>T (p.Asp398=) rs2278221
NM_014244.5(ADAMTS2):c.1208C>T (p.Ala403Val) rs756455382
NM_014244.5(ADAMTS2):c.1238+18G>A rs2278222
NM_014244.5(ADAMTS2):c.1254C>T (p.His418=) rs758041605
NM_014244.5(ADAMTS2):c.1264G>A (p.Gly422Ser)
NM_014244.5(ADAMTS2):c.1278C>T (p.Gly426=) rs746088783
NM_014244.5(ADAMTS2):c.1281C>T (p.Asp427=) rs34424371
NM_014244.5(ADAMTS2):c.1308G>A (p.Ala436=) rs41285549
NM_014244.5(ADAMTS2):c.130_131insCCA (p.Asp44delinsAlaAsn) rs1554100033
NM_014244.5(ADAMTS2):c.1383-3C>A rs1554126056
NM_014244.5(ADAMTS2):c.138A>G (p.Pro46=)
NM_014244.5(ADAMTS2):c.1427C>T (p.Pro476Leu) rs762123346
NM_014244.5(ADAMTS2):c.1431G>A (p.Ala477=) rs147259971
NM_014244.5(ADAMTS2):c.143G>A (p.Gly48Glu)
NM_014244.5(ADAMTS2):c.1458C>T (p.Tyr486=) rs61757478
NM_014244.5(ADAMTS2):c.1488C>T (p.Phe496=) rs147438064
NM_014244.5(ADAMTS2):c.1629+9G>A rs115550684
NM_014244.5(ADAMTS2):c.1630-18T>C rs2303638
NM_014244.5(ADAMTS2):c.1638dup (p.Lys547Ter) rs1554125059
NM_014244.5(ADAMTS2):c.1644A>G (p.Gly548=) rs61731454
NM_014244.5(ADAMTS2):c.165G>C (p.Glu55Asp)
NM_014244.5(ADAMTS2):c.167G>A (p.Arg56His)
NM_014244.5(ADAMTS2):c.1683C>A (p.Asp561Glu)
NM_014244.5(ADAMTS2):c.1695C>T (p.Gly565=) rs116708837
NM_014244.5(ADAMTS2):c.169A>G (p.Ile57Val)
NM_014244.5(ADAMTS2):c.1723C>T (p.Arg575Cys) rs1212597027
NM_014244.5(ADAMTS2):c.1769A>C (p.Asn590Thr)
NM_014244.5(ADAMTS2):c.1776C>A (p.His592Gln) rs1561773783
NM_014244.5(ADAMTS2):c.1803G>A (p.Ser601=) rs76754323
NM_014244.5(ADAMTS2):c.1883G>A (p.Arg628His) rs140621260
NM_014244.5(ADAMTS2):c.1903G>A (p.Glu635Lys) rs371099308
NM_014244.5(ADAMTS2):c.1908C>T (p.His636=) rs1862211
NM_014244.5(ADAMTS2):c.1909G>A (p.Gly637Ser)
NM_014244.5(ADAMTS2):c.1911C>T (p.Gly637=)
NM_014244.5(ADAMTS2):c.1912G>A (p.Asp638Asn)
NM_014244.5(ADAMTS2):c.1993G>A (p.Gly665Arg) rs35372714
NM_014244.5(ADAMTS2):c.200A>G (p.Gln67Arg) rs745588970
NM_014244.5(ADAMTS2):c.2015G>T (p.Arg672Leu) rs200806292
NM_014244.5(ADAMTS2):c.2028C>T (p.Asp676=) rs1972715
NM_014244.5(ADAMTS2):c.2034G>A (p.Thr678=) rs139943837
NM_014244.5(ADAMTS2):c.2036G>T (p.Arg679Leu) rs144554943
NM_014244.5(ADAMTS2):c.2073C>T (p.Arg691=) rs149391669
NM_014244.5(ADAMTS2):c.2080T>C (p.Cys694Arg)
NM_014244.5(ADAMTS2):c.2109C>T (p.Ile703=) rs200210415
NM_014244.5(ADAMTS2):c.2110G>A (p.Gly704Ser) rs149708395
NM_014244.5(ADAMTS2):c.2145C>T (p.Cys715=) rs372661052
NM_014244.5(ADAMTS2):c.2172G>C (p.Val724=) rs150587776
NM_014244.5(ADAMTS2):c.220G>A (p.Val74Met) rs2271211
NM_014244.5(ADAMTS2):c.2230A>G (p.Ile744Val) rs201241062
NM_014244.5(ADAMTS2):c.2243C>T (p.Ala748Val) rs780473688
NM_014244.5(ADAMTS2):c.2261A>G (p.Gln754Arg)
NM_014244.5(ADAMTS2):c.2267T>C (p.Val756Ala) rs141650732
NM_014244.5(ADAMTS2):c.2272G>A (p.Ala758Thr) rs146222244
NM_014244.5(ADAMTS2):c.2276C>A (p.Thr759Asn) rs886060493
NM_014244.5(ADAMTS2):c.2290+15C>T rs764259203
NM_014244.5(ADAMTS2):c.2291-8A>G rs140401199
NM_014244.5(ADAMTS2):c.2292C>T (p.Ala764=) rs188566209
NM_014244.5(ADAMTS2):c.2293G>A (p.Val765Ile) rs777314559
NM_014244.5(ADAMTS2):c.2382G>A (p.Glu794=) rs745407557
NM_014244.5(ADAMTS2):c.2384G>A (p.Trp795Ter) rs137853147
NM_014244.5(ADAMTS2):c.2398G>A (p.Glu800Lys)
NM_014244.5(ADAMTS2):c.2414C>T (p.Thr805Met) rs370350117
NM_014244.5(ADAMTS2):c.2439C>T (p.His813=) rs141661592
NM_014244.5(ADAMTS2):c.2458-6_2458del rs1057517277
NM_014244.5(ADAMTS2):c.2466G>T (p.Pro822=) rs377085746
NM_014244.5(ADAMTS2):c.2469G>A (p.Val823=) rs182103023
NM_014244.5(ADAMTS2):c.2479C>T (p.Arg827Trp)
NM_014244.5(ADAMTS2):c.2480G>A (p.Arg827Gln) rs35445112
NM_014244.5(ADAMTS2):c.2532C>T (p.Asp844=) rs2303644
NM_014244.5(ADAMTS2):c.2533G>C (p.Asp845His)
NM_014244.5(ADAMTS2):c.258C>G (p.Ala86=) rs886060497
NM_014244.5(ADAMTS2):c.260G>T (p.Arg87Leu)
NM_014244.5(ADAMTS2):c.2615G>T (p.Gly872Val)
NM_014244.5(ADAMTS2):c.2648G>A (p.Arg883Gln) rs772028555
NM_014244.5(ADAMTS2):c.2720C>T (p.Ala907Val)
NM_014244.5(ADAMTS2):c.2727C>T (p.Asn909=) rs151261888
NM_014244.5(ADAMTS2):c.2730A>G (p.Pro910=) rs6869261
NM_014244.5(ADAMTS2):c.2750+10C>T rs1045751866
NM_014244.5(ADAMTS2):c.2751-4G>A rs112155474
NM_014244.5(ADAMTS2):c.2780G>A (p.Ser927Asn) rs1193602528
NM_014244.5(ADAMTS2):c.2795G>A (p.Arg932Gln) rs140022033
NM_014244.5(ADAMTS2):c.2797A>G (p.Thr933Ala) rs886060492
NM_014244.5(ADAMTS2):c.2811G>A (p.Val937=) rs557019144
NM_014244.5(ADAMTS2):c.2817C>T (p.Ser939=) rs201215425
NM_014244.5(ADAMTS2):c.2818G>A (p.Val940Met) rs367796431
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.2892C>T (p.Pro964=) rs546361762
NM_014244.5(ADAMTS2):c.2893G>A (p.Glu965Lys) rs144138766
NM_014244.5(ADAMTS2):c.2914C>T (p.Arg972Cys) rs867846785
NM_014244.5(ADAMTS2):c.2959-17C>T rs2303641
NM_014244.5(ADAMTS2):c.2980G>A (p.Gly994Ser) rs142429109
NM_014244.5(ADAMTS2):c.2994G>T (p.Arg998=) rs780314895
NM_014244.5(ADAMTS2):c.3014C>T (p.Ala1005Val) rs79330641
NM_014244.5(ADAMTS2):c.303C>A (p.Asn101Lys)
NM_014244.5(ADAMTS2):c.3064A>T (p.Thr1022Ser) rs1434954526
NM_014244.5(ADAMTS2):c.3070del (p.Arg1024fs) rs1554123627
NM_014244.5(ADAMTS2):c.3078C>A (p.Gly1026=) rs886060491
NM_014244.5(ADAMTS2):c.3078C>T (p.Gly1026=) rs886060491
NM_014244.5(ADAMTS2):c.3088C>T (p.Arg1030Ter)
NM_014244.5(ADAMTS2):c.3116G>A (p.Ser1039Asn)
NM_014244.5(ADAMTS2):c.3121G>C (p.Val1041Leu)
NM_014244.5(ADAMTS2):c.321T>C (p.Ser107=) rs2271212
NM_014244.5(ADAMTS2):c.3232C>T (p.Arg1078Cys) rs755578308
NM_014244.5(ADAMTS2):c.3234C>G (p.Arg1078=)
NM_014244.5(ADAMTS2):c.3279T>C (p.Cys1093=) rs73806887
NM_014244.5(ADAMTS2):c.32del (p.Leu11fs)
NM_014244.5(ADAMTS2):c.3342C>T (p.Asn1114=) rs79606317
NM_014244.5(ADAMTS2):c.3343G>A (p.Asp1115Asn) rs200022037
NM_014244.5(ADAMTS2):c.3351C>T (p.Asp1117=) rs777279065
NM_014244.5(ADAMTS2):c.3352G>A (p.Val1118Met)
NM_014244.5(ADAMTS2):c.3367C>T (p.Leu1123Phe) rs201343773
NM_014244.5(ADAMTS2):c.3423G>A (p.Glu1141=) rs886060490
NM_014244.5(ADAMTS2):c.3449A>G (p.Asn1150Ser) rs200982805
NM_014244.5(ADAMTS2):c.3480C>A (p.Ala1160=) rs34437036
NM_014244.5(ADAMTS2):c.3503A>G (p.His1168Arg)
NM_014244.5(ADAMTS2):c.3506G>T (p.Gly1169Val) rs117187367
NM_014244.5(ADAMTS2):c.3529C>T (p.Pro1177Ser) rs1054480
NM_014244.5(ADAMTS2):c.3544C>T (p.Arg1182Ter) rs367553801
NM_014244.5(ADAMTS2):c.3545G>A (p.Arg1182Gln) rs140845527
NM_014244.5(ADAMTS2):c.3551C>T (p.Pro1184Leu) rs150989902
NM_014244.5(ADAMTS2):c.3606G>A (p.Met1202Ile) rs1278681689
NM_014244.5(ADAMTS2):c.3608G>A (p.Arg1203Gln)
NM_014244.5(ADAMTS2):c.373C>T (p.Arg125Trp)
NM_014244.5(ADAMTS2):c.394G>A (p.Ala132Thr)
NM_014244.5(ADAMTS2):c.411G>A (p.Met137Ile)
NM_014244.5(ADAMTS2):c.423C>T (p.Gly141=) rs755099137
NM_014244.5(ADAMTS2):c.442G>A (p.Val148Met)
NM_014244.5(ADAMTS2):c.447G>A (p.Glu149=) rs886060496
NM_014244.5(ADAMTS2):c.44_45insACT (p.Leu23dup) rs540605802
NM_014244.5(ADAMTS2):c.47_49TGC[11] (p.Leu21_Leu23dup) rs568040559
NM_014244.5(ADAMTS2):c.47_49TGC[6] (p.Leu22_Leu23del) rs568040559
NM_014244.5(ADAMTS2):c.47_49TGC[7] (p.Leu23del) rs568040559
NM_014244.5(ADAMTS2):c.47_49TGC[9] (p.Leu23dup) rs568040559
NM_014244.5(ADAMTS2):c.51_52insTTG (p.Leu23dup)
NM_014244.5(ADAMTS2):c.534+9G>C rs2271213
NM_014244.5(ADAMTS2):c.547C>T (p.Arg183Trp) rs372225444
NM_014244.5(ADAMTS2):c.580T>C (p.Leu194=) rs1554094148
NM_014244.5(ADAMTS2):c.596C>A (p.Ala199Glu) rs76704342
NM_014244.5(ADAMTS2):c.596C>T (p.Ala199Val) rs76704342
NM_014244.5(ADAMTS2):c.599C>T (p.Ala200Val)
NM_014244.5(ADAMTS2):c.641G>A (p.Arg214Gln) rs763524702
NM_014244.5(ADAMTS2):c.655C>T (p.Pro219Ser) rs146217716
NM_014244.5(ADAMTS2):c.661C>G (p.Leu221Val) rs756807336
NM_014244.5(ADAMTS2):c.669G>T (p.Gly223=) rs886060495
NM_014244.5(ADAMTS2):c.673C>T (p.Gln225Ter) rs137853146
NM_014244.5(ADAMTS2):c.68T>C (p.Leu23Pro) rs565885690
NM_014244.5(ADAMTS2):c.699_707GGACAGCCT[3] (p.234_236DSL[3])
NM_014244.5(ADAMTS2):c.701A>G (p.Asp234Gly) rs59567206
NM_014244.5(ADAMTS2):c.710A>C (p.Asp237Ala) rs202197821
NM_014244.5(ADAMTS2):c.71C>T (p.Pro24Leu) rs193247334
NM_014244.5(ADAMTS2):c.71_73CGC[2] (p.Pro26del)
NM_014244.5(ADAMTS2):c.71_73CGC[4] (p.Pro26dup) rs763392299
NM_014244.5(ADAMTS2):c.71_73CGC[5] (p.Pro25_Pro26dup)
NM_014244.5(ADAMTS2):c.722G>A (p.Arg241His) rs11750821
NM_014244.5(ADAMTS2):c.724G>A (p.Ala242Thr) rs372103269
NM_014244.5(ADAMTS2):c.732C>T (p.Gly244=) rs143069972
NM_014244.5(ADAMTS2):c.733G>A (p.Val245Ile) rs398829
NM_014244.5(ADAMTS2):c.748G>A (p.Ala250Thr) rs143764421
NM_014244.5(ADAMTS2):c.764G>A (p.Arg255Gln) rs117222015
NM_014244.5(ADAMTS2):c.784G>A (p.Ala262Thr) rs376820857
NM_014244.5(ADAMTS2):c.786G>A (p.Ala262=) rs423552
NM_014244.5(ADAMTS2):c.790G>A (p.Asp264Asn)
NM_014244.5(ADAMTS2):c.79_80insGCC (p.Leu27_Leu28insArg) rs1561778823
NM_014244.5(ADAMTS2):c.80_100dup (p.Leu27_Pro33dup) rs1064794627
NM_014244.5(ADAMTS2):c.80_88dup (p.Leu27_Pro29dup) rs775509290
NM_014244.5(ADAMTS2):c.80_94del (p.22_26LLPPP[1])
NM_014244.5(ADAMTS2):c.847G>A (p.Gly283Arg) rs376856341
NM_014244.5(ADAMTS2):c.84_86GCC[5] (p.Pro34del) rs770212030
NM_014244.5(ADAMTS2):c.84_86GCC[8] (p.Pro33_Pro34dup) rs770212030
NM_014244.5(ADAMTS2):c.858C>T (p.His286=) rs66565583
NM_014244.5(ADAMTS2):c.859G>A (p.Val287Ile) rs148737005
NM_014244.5(ADAMTS2):c.8C>T (p.Pro3Leu) rs1407363425
NM_014244.5(ADAMTS2):c.935A>G (p.Asn312Ser) rs528367185
NM_014244.5(ADAMTS2):c.936C>T (p.Asn312=) rs35462609
NM_014244.5(ADAMTS2):c.94C>T (p.Pro32Ser) rs547548078
NM_014244.5(ADAMTS2):c.95C>T (p.Pro32Leu) rs886060498
NM_014244.5(ADAMTS2):c.991G>A (p.Glu331Lys) rs17667857

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