ClinVar Miner

List of variants in gene ADAMTS17 reported as uncertain significance for Weill-Marchesani syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 135
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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.*111C>T rs886050971
NM_139057.4(ADAMTS17):c.*1130C>T rs377343119
NM_139057.4(ADAMTS17):c.*1218T>C rs886050958
NM_139057.4(ADAMTS17):c.*1244C>G rs561561821
NM_139057.4(ADAMTS17):c.*1315C>T rs185582795
NM_139057.4(ADAMTS17):c.*1348dup rs545574106
NM_139057.4(ADAMTS17):c.*1431_*1433TCC[1] rs757487035
NM_139057.4(ADAMTS17):c.*1448C>T rs188903672
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.*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.*1780G>A rs886050957
NM_139057.4(ADAMTS17):c.*1899del rs138786481
NM_139057.4(ADAMTS17):c.*1992G>A rs114383018
NM_139057.4(ADAMTS17):c.*2138C>T rs185690662
NM_139057.4(ADAMTS17):c.*2142_*2144GTT[1] rs886050956
NM_139057.4(ADAMTS17):c.*2193G>C rs886050955
NM_139057.4(ADAMTS17):c.*2279G>A rs529729790
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.*2329T>C rs886050953
NM_139057.4(ADAMTS17):c.*2354C>G 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.*2532G>A rs886050951
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.*2878C>T rs886050950
NM_139057.4(ADAMTS17):c.*293G>A rs886050969
NM_139057.4(ADAMTS17):c.*359A>G rs150430121
NM_139057.4(ADAMTS17):c.*420G>A rs556966662
NM_139057.4(ADAMTS17):c.*421G>C rs886050968
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.*519T>C rs886050966
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.*742C>T rs555201429
NM_139057.4(ADAMTS17):c.*743G>A rs74036641
NM_139057.4(ADAMTS17):c.*802G>A rs571008658
NM_139057.4(ADAMTS17):c.*850C>T rs886050964
NM_139057.4(ADAMTS17):c.*856C>T rs549608045
NM_139057.4(ADAMTS17):c.*960G>A rs180868548
NM_139057.4(ADAMTS17):c.*966G>T rs886050963
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.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.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.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.1720C>T (p.Pro574Ser) rs200327256
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.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.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.2472C>T (p.Ile824=) rs61752831
NM_139057.4(ADAMTS17):c.2590C>T (p.Arg864Trp) rs61757475
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.3144A>G (p.Lys1048=) rs886050972
NM_139057.4(ADAMTS17):c.3165G>C (p.Thr1055=) rs141373128
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.709C>T (p.Leu237=) rs780909666
NM_139057.4(ADAMTS17):c.751G>A (p.Glu251Lys) rs200673902
NM_139057.4(ADAMTS17):c.777C>T (p.Thr259=) rs377212581
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.998C>T (p.Pro333Leu) rs771992023

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