ClinVar Miner

List of variants in gene ADAMTS17 studied for Weill-Marchesani syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 211
Download table as spreadsheet
HGVS dbSNP
NM_139057.4(ADAMTS17):c.*1011_*1016del rs879713910
NM_139057.4(ADAMTS17):c.*1014_*1019del rs11277519
NM_139057.4(ADAMTS17):c.*1016C>T rs886050962
NM_139057.4(ADAMTS17):c.*1024T>G rs886050961
NM_139057.4(ADAMTS17):c.*1054T>C rs886050960
NM_139057.4(ADAMTS17):c.*1065G>A rs886050959
NM_139057.4(ADAMTS17):c.*1078G>A rs2727196
NM_139057.4(ADAMTS17):c.*1083A>G rs2581362
NM_139057.4(ADAMTS17):c.*111C>T rs886050971
NM_139057.4(ADAMTS17):c.*1130C>T rs377343119
NM_139057.4(ADAMTS17):c.*113A>G rs2581341
NM_139057.4(ADAMTS17):c.*116T>C rs143850369
NM_139057.4(ADAMTS17):c.*1218T>C rs886050958
NM_139057.4(ADAMTS17):c.*1227_*1230AAGG[1] rs10549565
NM_139057.4(ADAMTS17):c.*1243C>T rs2581363
NM_139057.4(ADAMTS17):c.*1244C>G rs561561821
NM_139057.4(ADAMTS17):c.*1289T>G rs2581365
NM_139057.4(ADAMTS17):c.*1315C>T rs185582795
NM_139057.4(ADAMTS17):c.*1348dup rs545574106
NM_139057.4(ADAMTS17):c.*1419G>A rs75143725
NM_139057.4(ADAMTS17):c.*1431_*1433TCC[1] rs757487035
NM_139057.4(ADAMTS17):c.*1448C>T rs188903672
NM_139057.4(ADAMTS17):c.*1449G>A rs2573625
NM_139057.4(ADAMTS17):c.*1490C>T rs2727195
NM_139057.4(ADAMTS17):c.*1546G>A rs149694490
NM_139057.4(ADAMTS17):c.*1600C>T rs185290147
NM_139057.4(ADAMTS17):c.*1653C>G rs536677830
NM_139057.4(ADAMTS17):c.*1706G>A rs117744474
NM_139057.4(ADAMTS17):c.*1729G>A rs58739070
NM_139057.4(ADAMTS17):c.*172_*174del rs137961566
NM_139057.4(ADAMTS17):c.*1741A>T rs542106384
NM_139057.4(ADAMTS17):c.*1749G>A rs757196506
NM_139057.4(ADAMTS17):c.*1759G>C rs539776359
NM_139057.4(ADAMTS17):c.*1763C>T rs550240800
NM_139057.4(ADAMTS17):c.*1773G>T rs74037057
NM_139057.4(ADAMTS17):c.*1774C>T rs74037056
NM_139057.4(ADAMTS17):c.*1779T>C rs12440706
NM_139057.4(ADAMTS17):c.*1780G>A rs886050957
NM_139057.4(ADAMTS17):c.*1899del rs138786481
NM_139057.4(ADAMTS17):c.*189G>C rs2581343
NM_139057.4(ADAMTS17):c.*190G>A rs2727199
NM_139057.4(ADAMTS17):c.*1944G>A rs116429760
NM_139057.4(ADAMTS17):c.*1946G>T rs77749500
NM_139057.4(ADAMTS17):c.*1992G>A rs114383018
NM_139057.4(ADAMTS17):c.*2007G>A rs8041901
NM_139057.4(ADAMTS17):c.*2012C>T rs190592619
NM_139057.4(ADAMTS17):c.*2013T>G rs2727194
NM_139057.4(ADAMTS17):c.*2079C>T rs75041141
NM_139057.4(ADAMTS17):c.*2138C>T rs185690662
NM_139057.4(ADAMTS17):c.*2142_*2144GTT[1] rs886050956
NM_139057.4(ADAMTS17):c.*2157_*2158AG[1] rs144918924
NM_139057.4(ADAMTS17):c.*2183G>A rs148789222
NM_139057.4(ADAMTS17):c.*2193G>C rs886050955
NM_139057.4(ADAMTS17):c.*2227G>A rs8041553
NM_139057.4(ADAMTS17):c.*2279G>A rs529729790
NM_139057.4(ADAMTS17):c.*2283A>G rs8025962
NM_139057.4(ADAMTS17):c.*2291G>A rs750700990
NM_139057.4(ADAMTS17):c.*2313T>C rs562633764
NM_139057.4(ADAMTS17):c.*2316C>G rs886050954
NM_139057.4(ADAMTS17):c.*2324G>A rs8041395
NM_139057.4(ADAMTS17):c.*2329T>C rs886050953
NM_139057.4(ADAMTS17):c.*2352C>G rs138578029
NM_139057.4(ADAMTS17):c.*2354C>G rs8036076
NM_139057.4(ADAMTS17):c.*2354C>T rs8036076
NM_139057.4(ADAMTS17):c.*2355G>C rs564194386
NM_139057.4(ADAMTS17):c.*2379C>T rs182417427
NM_139057.4(ADAMTS17):c.*2429G>A rs886050952
NM_139057.4(ADAMTS17):c.*2472C>T rs138099553
NM_139057.4(ADAMTS17):c.*2479C>G rs540696412
NM_139057.4(ADAMTS17):c.*2511A>G rs145561763
NM_139057.4(ADAMTS17):c.*2528T>C rs8037666
NM_139057.4(ADAMTS17):c.*2532G>A rs886050951
NM_139057.4(ADAMTS17):c.*2541A>G rs8041971
NM_139057.4(ADAMTS17):c.*2560T>C rs10468183
NM_139057.4(ADAMTS17):c.*2578G>A rs183671964
NM_139057.4(ADAMTS17):c.*2598T>C rs754478048
NM_139057.4(ADAMTS17):c.*2605G>C rs191759654
NM_139057.4(ADAMTS17):c.*261G>A rs886050970
NM_139057.4(ADAMTS17):c.*2626_*2628del rs543559051
NM_139057.4(ADAMTS17):c.*2645C>T rs114391483
NM_139057.4(ADAMTS17):c.*2690G>A rs566216613
NM_139057.4(ADAMTS17):c.*2701G>C rs13329612
NM_139057.4(ADAMTS17):c.*2722G>A rs116467016
NM_139057.4(ADAMTS17):c.*2878C>T rs886050950
NM_139057.4(ADAMTS17):c.*293G>A rs886050969
NM_139057.4(ADAMTS17):c.*316T>C rs2581345
NM_139057.4(ADAMTS17):c.*359A>G rs150430121
NM_139057.4(ADAMTS17):c.*399_*412dup rs71151926
NM_139057.4(ADAMTS17):c.*420G>A rs556966662
NM_139057.4(ADAMTS17):c.*421G>C rs886050968
NM_139057.4(ADAMTS17):c.*425C>A rs574877864
NM_139057.4(ADAMTS17):c.*429A>C rs2581346
NM_139057.4(ADAMTS17):c.*439G>A rs140255903
NM_139057.4(ADAMTS17):c.*464C>T rs148258011
NM_139057.4(ADAMTS17):c.*465G>A rs886050967
NM_139057.4(ADAMTS17):c.*46C>G rs2581340
NM_139057.4(ADAMTS17):c.*486G>A rs117381111
NM_139057.4(ADAMTS17):c.*498A>C rs2573651
NM_139057.4(ADAMTS17):c.*510C>T rs2573650
NM_139057.4(ADAMTS17):c.*519T>C rs886050966
NM_139057.4(ADAMTS17):c.*544G>A rs2581348
NM_139057.4(ADAMTS17):c.*567G>C rs2573649
NM_139057.4(ADAMTS17):c.*612G>T rs574728895
NM_139057.4(ADAMTS17):c.*639G>A rs886050965
NM_139057.4(ADAMTS17):c.*671C>T rs76681073
NM_139057.4(ADAMTS17):c.*692G>C rs187035332
NM_139057.4(ADAMTS17):c.*700G>A rs60022871
NM_139057.4(ADAMTS17):c.*742C>T rs555201429
NM_139057.4(ADAMTS17):c.*743G>A rs74036641
NM_139057.4(ADAMTS17):c.*802G>A rs571008658
NM_139057.4(ADAMTS17):c.*82G>A rs3825894
NM_139057.4(ADAMTS17):c.*850C>T rs886050964
NM_139057.4(ADAMTS17):c.*856C>T rs549608045
NM_139057.4(ADAMTS17):c.*882G>C rs2581358
NM_139057.4(ADAMTS17):c.*882G>T rs2581358
NM_139057.4(ADAMTS17):c.*885A>G rs2727198
NM_139057.4(ADAMTS17):c.*900T>C rs2581359
NM_139057.4(ADAMTS17):c.*960G>A rs180868548
NM_139057.4(ADAMTS17):c.*966G>T rs886050963
NM_139057.4(ADAMTS17):c.*989G>A rs57279107
NM_139057.4(ADAMTS17):c.-19del rs150933882
NM_139057.4(ADAMTS17):c.-19dup rs150933882
NM_139057.4(ADAMTS17):c.-22G>A rs760846321
NM_139057.4(ADAMTS17):c.-4T>C rs886050984
NM_139057.4(ADAMTS17):c.-62C>A rs886050985
NM_139057.4(ADAMTS17):c.-69C>T rs534119279
NM_139057.4(ADAMTS17):c.-9C>T rs192272127
NM_139057.4(ADAMTS17):c.1008G>A (p.Val336=) rs557358714
NM_139057.4(ADAMTS17):c.1017C>T (p.Ala339=) rs4965613
NM_139057.4(ADAMTS17):c.1053G>A (p.Lys351=) rs4369638
NM_139057.4(ADAMTS17):c.1062G>A (p.Pro354=) rs145206425
NM_139057.4(ADAMTS17):c.1145A>G (p.Asn382Ser) rs755587669
NM_139057.4(ADAMTS17):c.1208A>G (p.His403Arg) rs886050975
NM_139057.4(ADAMTS17):c.1248G>A (p.Glu416=) rs371229459
NM_139057.4(ADAMTS17):c.1288T>C (p.Ser430Pro) rs140930935
NM_139057.4(ADAMTS17):c.1302T>C (p.Asp434=) rs559102316
NM_139057.4(ADAMTS17):c.1317C>A (p.Phe439Leu) rs147286623
NM_139057.4(ADAMTS17):c.1323-12C>T rs770627848
NM_139057.4(ADAMTS17):c.1337C>T (p.Thr446Ile) rs72755233
NM_139057.4(ADAMTS17):c.1353G>A (p.Thr451=) rs143896591
NM_139057.4(ADAMTS17):c.1398G>A (p.Pro466=) rs149252796
NM_139057.4(ADAMTS17):c.1431G>T (p.Gln477His) rs765427198
NM_139057.4(ADAMTS17):c.1445T>C (p.Met482Thr) rs28567966
NM_139057.4(ADAMTS17):c.1587G>A (p.Ala529=) rs767074176
NM_139057.4(ADAMTS17):c.1587G>C (p.Ala529=) rs767074176
NM_139057.4(ADAMTS17):c.1682C>T (p.Thr561Met) rs140998386
NM_139057.4(ADAMTS17):c.168C>T (p.Ala56=) rs886050982
NM_139057.4(ADAMTS17):c.1696A>C (p.Arg566=) rs12907333
NM_139057.4(ADAMTS17):c.1720C>T (p.Pro574Ser) rs200327256
NM_139057.4(ADAMTS17):c.1721+1G>A
NM_139057.4(ADAMTS17):c.1767T>C (p.His589=) rs148939974
NM_139057.4(ADAMTS17):c.1804C>T (p.Pro602Ser) rs756454329
NM_139057.4(ADAMTS17):c.1840C>T (p.Arg614Trp) rs200745301
NM_139057.4(ADAMTS17):c.1868T>C (p.Leu623Pro) rs200371613
NM_139057.4(ADAMTS17):c.1875C>T (p.Ala625=) rs34558152
NM_139057.4(ADAMTS17):c.1887C>T (p.Asp629=) rs145594305
NM_139057.4(ADAMTS17):c.1889-14C>T rs374520210
NM_139057.4(ADAMTS17):c.1923G>A (p.Gly641=) rs749551110
NM_139057.4(ADAMTS17):c.1962C>T (p.Asp654=) rs61752832
NM_139057.4(ADAMTS17):c.1971C>G (p.Pro657=) rs760290195
NM_139057.4(ADAMTS17):c.1981T>C (p.Tyr661His) rs201920741
NM_139057.4(ADAMTS17):c.2004C>T (p.His668=) rs200766799
NM_139057.4(ADAMTS17):c.2040C>T (p.Ile680=) rs150431950
NM_139057.4(ADAMTS17):c.2067C>T (p.Cys689=) rs200809221
NM_139057.4(ADAMTS17):c.2109G>A (p.Lys703=) rs139059770
NM_139057.4(ADAMTS17):c.2112C>T (p.Gly704=) rs4965583
NM_139057.4(ADAMTS17):c.2138-12C>T rs28529328
NM_139057.4(ADAMTS17):c.224G>T (p.Arg75Leu) rs886050981
NM_139057.4(ADAMTS17):c.228C>G (p.Pro76=) rs747636994
NM_139057.4(ADAMTS17):c.233A>G (p.Glu78Gly) rs886050980
NM_139057.4(ADAMTS17):c.2364G>A (p.Ala788=) rs146286415
NM_139057.4(ADAMTS17):c.2456-1dup rs387906291
NM_139057.4(ADAMTS17):c.2472C>T (p.Ile824=) rs61752831
NM_139057.4(ADAMTS17):c.2590C>T (p.Arg864Trp) rs61757475
NM_139057.4(ADAMTS17):c.2591+6A>G rs8028251
NM_139057.4(ADAMTS17):c.2592-10C>T rs751012843
NM_139057.4(ADAMTS17):c.2592-9G>A rs373353462
NM_139057.4(ADAMTS17):c.2637A>G (p.Lys879=) rs563938783
NM_139057.4(ADAMTS17):c.2700G>A (p.Thr900=) rs149373184
NM_139057.4(ADAMTS17):c.2731G>C (p.Ala911Pro) rs886050974
NM_139057.4(ADAMTS17):c.2883G>A (p.Pro961=) rs550282581
NM_139057.4(ADAMTS17):c.2923G>A (p.Glu975Lys) rs775321973
NM_139057.4(ADAMTS17):c.3028G>A (p.Glu1010Lys) rs367651794
NM_139057.4(ADAMTS17):c.3068G>A (p.Cys1023Tyr) rs144662002
NM_139057.4(ADAMTS17):c.3111C>A (p.Ile1037=) rs886050973
NM_139057.4(ADAMTS17):c.3127+12C>T rs200475413
NM_139057.4(ADAMTS17):c.3128-12C>T rs182634994
NM_139057.4(ADAMTS17):c.3138C>T (p.Thr1046=) rs112214202
NM_139057.4(ADAMTS17):c.3144A>G (p.Lys1048=) rs886050972
NM_139057.4(ADAMTS17):c.3165G>C (p.Thr1055=) rs141373128
NM_139057.4(ADAMTS17):c.3219C>T (p.Tyr1073=) rs78682885
NM_139057.4(ADAMTS17):c.3281A>G (p.Asn1094Ser) rs2573652
NM_139057.4(ADAMTS17):c.3285G>A (p.Ser1095=) rs144817994
NM_139057.4(ADAMTS17):c.388C>G (p.Arg130Gly) rs886050979
NM_139057.4(ADAMTS17):c.441C>G (p.Ala147=) rs375900400
NM_139057.4(ADAMTS17):c.520A>C (p.Ser174Arg) rs761591792
NM_139057.4(ADAMTS17):c.552G>C (p.Trp184Cys) rs754980579
NM_139057.4(ADAMTS17):c.616+7C>T rs886050978
NM_139057.4(ADAMTS17):c.647C>T (p.Ser216Leu) rs7496668
NM_139057.4(ADAMTS17):c.652del (p.Asp218fs) rs1555501030
NM_139057.4(ADAMTS17):c.709C>T (p.Leu237=) rs780909666
NM_139057.4(ADAMTS17):c.751G>A (p.Glu251Lys) rs200673902
NM_139057.4(ADAMTS17):c.756C>T (p.Ala252=) rs7496640
NM_139057.4(ADAMTS17):c.760C>T (p.Gln254Ter) rs267606638
NM_139057.4(ADAMTS17):c.777C>T (p.Thr259=) rs377212581
NM_139057.4(ADAMTS17):c.789+8C>T rs7496614
NM_139057.4(ADAMTS17):c.790-6T>C rs886050977
NM_139057.4(ADAMTS17):c.80-10C>G rs886050983
NM_139057.4(ADAMTS17):c.867A>G (p.Gln289=) rs886050976
NM_139057.4(ADAMTS17):c.873+1G>T rs1160509052
NM_139057.4(ADAMTS17):c.998C>T (p.Pro333Leu) rs771992023

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