ClinVar Miner

Variants in gene ADAMTS2 with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
1674 274 0 42 106 0 1 138

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 14 0 0 0
likely pathogenic 14 0 1 0 0
uncertain significance 0 1 0 100 13
likely benign 0 0 100 0 28
benign 0 0 13 28 0

All variants with conflicting interpretations #

Total variants: 138
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014244.5(ADAMTS2):c.2480G>A (p.Arg827Gln) rs35445112 0.02465
NM_014244.5(ADAMTS2):c.701A>G (p.Asp234Gly) rs59567206 0.02208
NM_014244.5(ADAMTS2):c.1993G>A (p.Gly665Arg) rs35372714 0.00904
NM_014244.5(ADAMTS2):c.3014C>T (p.Ala1005Val) rs79330641 0.00719
NM_014244.5(ADAMTS2):c.68T>C (p.Leu23Pro) rs565885690 0.00705
NM_014244.5(ADAMTS2):c.1695C>T (p.Gly565=) rs116708837 0.00461
NM_014244.5(ADAMTS2):c.1458C>T (p.Tyr486=) rs61757478 0.00427
NM_014244.5(ADAMTS2):c.2751-4G>A rs112155474 0.00312
NM_014244.5(ADAMTS2):c.1629+1008G>A rs139658049 0.00248
NM_014244.5(ADAMTS2):c.689-18G>A rs202114393 0.00188
NM_014244.5(ADAMTS2):c.1488C>T (p.Phe496=) rs147438064 0.00178
NM_014244.5(ADAMTS2):c.2842G>A (p.Asp948Asn) rs758419331 0.00169
NM_014244.5(ADAMTS2):c.139+4G>A rs1023653032 0.00128
NM_014244.5(ADAMTS2):c.94C>T (p.Pro32Ser) rs547548078 0.00123
NM_014244.5(ADAMTS2):c.2795G>A (p.Arg932Gln) rs140022033 0.00108
NM_014244.5(ADAMTS2):c.2763C>T (p.Gly921=) rs144797464 0.00103
NM_014244.5(ADAMTS2):c.748G>A (p.Ala250Thr) rs143764421 0.00102
NM_014244.5(ADAMTS2):c.2958+4C>T rs375345961 0.00100
NM_014244.5(ADAMTS2):c.1122C>T (p.Ser374=) rs145109914 0.00097
NM_014244.5(ADAMTS2):c.2267T>C (p.Val756Ala) rs141650732 0.00086
NM_014244.5(ADAMTS2):c.596C>T (p.Ala199Val) rs76704342 0.00078
NM_014244.5(ADAMTS2):c.1883G>A (p.Arg628His) rs140621260 0.00063
NM_014244.5(ADAMTS2):c.1164G>A (p.Pro388=) rs141348218 0.00061
NM_014244.5(ADAMTS2):c.1083T>C (p.Asp361=) rs150079799 0.00054
NM_014244.5(ADAMTS2):c.2272G>A (p.Ala758Thr) rs146222244 0.00052
NM_014244.5(ADAMTS2):c.764G>A (p.Arg255Gln) rs117222015 0.00048
NM_014244.5(ADAMTS2):c.2892C>T (p.Pro964=) rs546361762 0.00044
NM_014244.5(ADAMTS2):c.2933G>A (p.Arg978His) rs201998372 0.00033
NM_014244.5(ADAMTS2):c.3195C>T (p.Gly1065=) rs778572930 0.00031
NM_014244.5(ADAMTS2):c.2439C>T (p.His813=) rs141661592 0.00030
NM_014244.5(ADAMTS2):c.724G>A (p.Ala242Thr) rs372103269 0.00026
NM_014244.5(ADAMTS2):c.2109C>T (p.Ile703=) rs200210415 0.00022
NM_014244.5(ADAMTS2):c.2292C>T (p.Ala764=) rs188566209 0.00021
NM_014244.5(ADAMTS2):c.2893G>A (p.Glu965Lys) rs144138766 0.00021
NM_014244.5(ADAMTS2):c.3154T>G (p.Ser1052Ala) rs201390756 0.00021
NM_014244.5(ADAMTS2):c.770C>A (p.Ala257Glu) rs370679548 0.00021
NM_014244.5(ADAMTS2):c.1149C>T (p.Thr383=) rs199664723 0.00019
NM_014244.5(ADAMTS2):c.2817C>T (p.Ser939=) rs201215425 0.00018
NM_014244.5(ADAMTS2):c.790G>A (p.Asp264Asn) rs374717566 0.00018
NM_014244.5(ADAMTS2):c.3342C>T (p.Asn1114=) rs79606317 0.00017
NM_014244.5(ADAMTS2):c.3449A>G (p.Asn1150Ser) rs200982805 0.00016
NM_014244.5(ADAMTS2):c.798C>T (p.Tyr266=) rs139249329 0.00016
NM_014244.5(ADAMTS2):c.167G>A (p.Arg56His) rs201167346 0.00015
NM_014244.5(ADAMTS2):c.2110G>A (p.Gly704Ser) rs149708395 0.00013
NM_014244.5(ADAMTS2):c.1815C>T (p.Tyr605=) rs369654932 0.00012
NM_014244.5(ADAMTS2):c.784G>A (p.Ala262Thr) rs376820857 0.00012
NM_014244.5(ADAMTS2):c.2994G>T (p.Arg998=) rs780314895 0.00011
NM_014244.5(ADAMTS2):c.3018C>T (p.Asp1006=) rs150535792 0.00011
NM_014244.5(ADAMTS2):c.3551C>T (p.Pro1184Leu) rs150989902 0.00011
NM_014244.5(ADAMTS2):c.1431G>A (p.Ala477=) rs147259971 0.00010
NM_014244.5(ADAMTS2):c.2085+8C>A rs199825726 0.00010
NM_014244.5(ADAMTS2):c.423C>T (p.Gly141=) rs755099137 0.00010
NM_014244.5(ADAMTS2):c.2719G>A (p.Ala907Thr) rs199617528 0.00009
NM_014244.5(ADAMTS2):c.2100C>T (p.Asp700=) rs560354978 0.00007
NM_014244.5(ADAMTS2):c.2469G>A (p.Val823=) rs182103023 0.00007
NM_014244.5(ADAMTS2):c.260G>T (p.Arg87Leu) rs150047440 0.00007
NM_014244.5(ADAMTS2):c.2860G>A (p.Val954Met) rs368363548 0.00007
NM_014244.5(ADAMTS2):c.2970C>T (p.Thr990=) rs769689633 0.00007
NM_014244.5(ADAMTS2):c.2866G>A (p.Ala956Thr) rs375191740 0.00006
NM_014244.5(ADAMTS2):c.1911C>T (p.Gly637=) rs142275705 0.00005
NM_014244.5(ADAMTS2):c.291C>T (p.Phe97=) rs462009 0.00005
NM_014244.5(ADAMTS2):c.102C>A (p.Pro34=) rs1402048390 0.00004
NM_014244.5(ADAMTS2):c.1914C>T (p.Asp638=) rs752737484 0.00004
NM_014244.5(ADAMTS2):c.2145C>T (p.Cys715=) rs372661052 0.00004
NM_014244.5(ADAMTS2):c.2751-15G>A rs376602983 0.00004
NM_014244.5(ADAMTS2):c.762G>A (p.Arg254=) rs753246905 0.00004
NM_014244.5(ADAMTS2):c.976-10C>A rs973000351 0.00004
NM_014244.5(ADAMTS2):c.2835G>A (p.Pro945=) rs768390657 0.00003
NM_014244.5(ADAMTS2):c.3303C>T (p.Asn1101=) rs766731589 0.00003
NM_014244.5(ADAMTS2):c.3607C>T (p.Arg1203Trp) rs144078893 0.00003
NM_014244.5(ADAMTS2):c.891+9G>A rs749508251 0.00003
NM_014244.5(ADAMTS2):c.-5C>T rs1480092350 0.00002
NM_014244.5(ADAMTS2):c.1236C>T (p.His412=) rs375556579 0.00002
NM_014244.5(ADAMTS2):c.3423G>A (p.Glu1141=) rs886060490 0.00002
NM_014244.5(ADAMTS2):c.653C>T (p.Ser218Phe) rs781630569 0.00002
NM_014244.5(ADAMTS2):c.71C>T (p.Pro24Leu) rs193247334 0.00002
NM_014244.5(ADAMTS2):c.1278C>T (p.Gly426=) rs746088783 0.00001
NM_014244.5(ADAMTS2):c.1413C>T (p.Phe471=) rs751565994 0.00001
NM_014244.5(ADAMTS2):c.1428G>A (p.Pro476=) rs374288519 0.00001
NM_014244.5(ADAMTS2):c.2290+15C>T rs764259203 0.00001
NM_014244.5(ADAMTS2):c.2688C>T (p.Ala896=) rs370747086 0.00001
NM_014244.5(ADAMTS2):c.2727C>T (p.Asn909=) rs151261888 0.00001
NM_014244.5(ADAMTS2):c.2811G>A (p.Val937=) rs557019144 0.00001
NM_014244.5(ADAMTS2):c.2958+14C>T rs755961602 0.00001
NM_014244.5(ADAMTS2):c.2959-13T>C rs759056190 0.00001
NM_014244.5(ADAMTS2):c.3078C>T (p.Gly1026=) rs886060491 0.00001
NM_014244.5(ADAMTS2):c.3089-7C>A rs760424301 0.00001
NM_014244.5(ADAMTS2):c.3351C>T (p.Asp1117=) rs777279065 0.00001
NM_014244.5(ADAMTS2):c.3544C>T (p.Arg1182Ter) rs367553801 0.00001
NM_014244.5(ADAMTS2):c.661C>G (p.Leu221Val) rs756807336 0.00001
NM_014244.5(ADAMTS2):c.669G>T (p.Gly223=) rs886060495 0.00001
NM_014244.5(ADAMTS2):c.688+9A>G rs1347345675 0.00001
NM_014244.5(ADAMTS2):c.819C>T (p.Gly273=) rs751895494 0.00001
NM_014244.5(ADAMTS2):c.996C>T (p.Ile332=) rs767485549 0.00001
NM_014244.5(ADAMTS2):c.100_130del (p.Pro34fs) rs1242279733
NM_014244.5(ADAMTS2):c.102_123dup (p.Ala42fs) rs1757906798
NM_014244.5(ADAMTS2):c.1161T>C (p.His387=) rs770426851
NM_014244.5(ADAMTS2):c.119CCG[5] (p.Ala43dup) rs1174228917
NM_014244.5(ADAMTS2):c.1238+10del rs2480245459
NM_014244.5(ADAMTS2):c.1308G>A (p.Ala436=) rs41285549
NM_014244.5(ADAMTS2):c.1308G>C (p.Ala436=) rs41285549
NM_014244.5(ADAMTS2):c.1360C>T (p.Gln454Ter) rs2480242550
NM_014244.5(ADAMTS2):c.137del (p.Pro46fs) rs1417947464
NM_014244.5(ADAMTS2):c.1383-5dup rs2480240688
NM_014244.5(ADAMTS2):c.1599dup (p.Asp535fs) rs2480234649
NM_014244.5(ADAMTS2):c.1629+7C>T
NM_014244.5(ADAMTS2):c.1686C>T (p.Gly562=) rs1561774705
NM_014244.5(ADAMTS2):c.1701G>A (p.Trp567Ter) rs2113223246
NM_014244.5(ADAMTS2):c.183C>G (p.Pro61=) rs375775300
NM_014244.5(ADAMTS2):c.1848C>G (p.Pro616=) rs569510744
NM_014244.5(ADAMTS2):c.1869C>T (p.Arg623=) rs376058580
NM_014244.5(ADAMTS2):c.1977C>A (p.Cys659Ter) rs758599662
NM_014244.5(ADAMTS2):c.1977C>T (p.Cys659=) rs758599662
NM_014244.5(ADAMTS2):c.2015G>T (p.Arg672Leu) rs200806292
NM_014244.5(ADAMTS2):c.2295C>G (p.Val765=) rs1314855077
NM_014244.5(ADAMTS2):c.2372del (p.Met791fs) rs2113200198
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>T (p.Glu800Ter) rs747447840
NM_014244.5(ADAMTS2):c.2454T>C (p.Val818=) rs2113199908
NM_014244.5(ADAMTS2):c.2503_2510del (p.Tyr834_Met835insTer)
NM_014244.5(ADAMTS2):c.2565C>A (p.Val855=) rs2113195729
NM_014244.5(ADAMTS2):c.258C>G (p.Ala86=) rs886060497
NM_014244.5(ADAMTS2):c.265del (p.Ala89fs) rs2532190478
NM_014244.5(ADAMTS2):c.2853C>T (p.Thr951=)
NM_014244.5(ADAMTS2):c.2930G>A (p.Gly977Asp) rs1200659345
NM_014244.5(ADAMTS2):c.3012C>G (p.Thr1004=) rs571054777
NM_014244.5(ADAMTS2):c.3088C>T (p.Arg1030Ter) rs966437723
NM_014244.5(ADAMTS2):c.3089-8C>T rs2480145251
NM_014244.5(ADAMTS2):c.447G>A (p.Glu149=) rs886060496
NM_014244.5(ADAMTS2):c.47TGC[11] (p.Leu21_Leu23dup) rs568040559
NM_014244.5(ADAMTS2):c.47TGC[6] (p.Leu22_Leu23del) rs568040559
NM_014244.5(ADAMTS2):c.71CGC[4] (p.Pro26dup) rs763392299
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.84GCC[7] (p.Pro34dup) rs770212030
NM_014244.5(ADAMTS2):c.919T>C (p.Leu307=) rs1764038673
NM_014244.5(ADAMTS2):c.97_130del (p.Pro33fs)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.