ClinVar Miner

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

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_139057.4(ADAMTS17):c.1053G>A (p.Lys351=) rs4369638 0.75672
NM_139057.4(ADAMTS17):c.3281A>G (p.Asn1094Ser) rs2573652 0.70543
NM_139057.4(ADAMTS17):c.*510C>T rs2573650 0.69021
NM_139057.4(ADAMTS17):c.1017C>T (p.Ala339=) rs4965613 0.68304
NM_139057.4(ADAMTS17):c.1031+81A>G rs4965295 0.68113
NM_139057.4(ADAMTS17):c.873+58T>C rs4965297 0.67726
NM_139057.4(ADAMTS17):c.*46C>G rs2581340 0.65342
NM_139057.4(ADAMTS17):c.*113A>G rs2581341 0.64262
NM_139057.4(ADAMTS17):c.*316T>C rs2581345 0.64086
NM_139057.4(ADAMTS17):c.*1083A>G rs2581362 0.64072
NM_139057.4(ADAMTS17):c.*1078G>A rs2727196 0.64049
NM_139057.4(ADAMTS17):c.*399_*412dup rs71151926 0.64020
NM_139057.4(ADAMTS17):c.*544G>A rs2581348 0.64018
NM_139057.4(ADAMTS17):c.*1289T>G rs2581365 0.63990
NM_139057.4(ADAMTS17):c.*1243C>T rs2581363 0.63825
NM_139057.4(ADAMTS17):c.*885A>G rs2727198 0.62345
NM_139057.4(ADAMTS17):c.*1449G>A rs2573625 0.61872
NM_139057.4(ADAMTS17):c.*1490C>T rs2727195 0.61407
NM_139057.4(ADAMTS17):c.*190G>A rs2727199 0.58955
NM_139057.4(ADAMTS17):c.*900T>C rs2581359 0.58766
NM_139057.4(ADAMTS17):c.873+62C>T rs4965296 0.57943
NM_139057.4(ADAMTS17):c.*189G>C rs2581343 0.57417
NM_139057.4(ADAMTS17):c.2950-45C>T rs11634977 0.57048
NM_139057.4(ADAMTS17):c.2949+35G>A rs7175995 0.50353
NM_139057.4(ADAMTS17):c.2796+96G>A rs12900132 0.49795
NM_139057.4(ADAMTS17):c.*2528T>C rs8037666 0.46516
NM_139057.4(ADAMTS17):c.756C>T (p.Ala252=) rs7496640 0.40719
NM_139057.4(ADAMTS17):c.617-41A>G rs7497712 0.40701
NM_139057.4(ADAMTS17):c.*82G>A rs3825894 0.39172
NM_139057.4(ADAMTS17):c.647C>T (p.Ser216Leu) rs7496668 0.39054
NM_139057.4(ADAMTS17):c.*2560T>C rs10468183 0.37771
NM_139057.4(ADAMTS17):c.2591+6A>G rs8028251 0.30715
NM_139057.4(ADAMTS17):c.789+8C>T rs7496614 0.30495
NM_139057.4(ADAMTS17):c.2138-12C>T rs28529328 0.25319
NM_139057.4(ADAMTS17):c.*1779T>C rs12440706 0.24902
NM_139057.4(ADAMTS17):c.2112C>T (p.Gly704=) rs4965583 0.18423
NM_139057.4(ADAMTS17):c.1445T>C (p.Met482Thr) rs28567966 0.15651
NM_139057.4(ADAMTS17):c.1962C>T (p.Asp654=) rs61752832 0.08618
NM_139057.4(ADAMTS17):c.*2283A>G rs8025962 0.08276
NM_139057.4(ADAMTS17):c.*2701G>C rs13329612 0.07318
NM_139057.4(ADAMTS17):c.*2541A>G rs8041971 0.06591
NM_139057.4(ADAMTS17):c.*486G>A rs117381111 0.06056
NM_139057.4(ADAMTS17):c.*2007G>A rs8041901 0.04026
NM_139057.4(ADAMTS17):c.*2183G>A rs148789222 0.03651
NM_139057.4(ADAMTS17):c.*439G>A rs140255903 0.03019
NM_139057.4(ADAMTS17):c.*700G>A rs60022871 0.02686
NM_139057.4(ADAMTS17):c.3219C>T (p.Tyr1073=) rs78682885 0.02540
NM_139057.4(ADAMTS17):c.*2324G>A rs8041395 0.01632
NM_139057.4(ADAMTS17):c.*1729G>A rs58739070 0.01571
NM_139057.4(ADAMTS17):c.2472C>T (p.Ile824=) rs61752831 0.01571
NM_139057.4(ADAMTS17):c.*1774C>T rs74037056 0.01566
NM_139057.4(ADAMTS17):c.*2227G>A rs8041553 0.01381
NM_139057.4(ADAMTS17):c.*2079C>T rs75041141 0.01313
NM_139057.4(ADAMTS17):c.*2012C>T rs190592619 0.01261
NM_139057.4(ADAMTS17):c.*1944G>A rs116429760 0.01213
NM_139057.4(ADAMTS17):c.*1706G>A rs117744474 0.01078
NM_139057.4(ADAMTS17):c.*2578G>A rs183671964 0.01077
NM_139057.4(ADAMTS17):c.*2722G>A rs116467016 0.01067
NM_139057.4(ADAMTS17):c.*989G>A rs57279107 0.01034
NM_139057.4(ADAMTS17):c.1875C>T (p.Ala625=) rs34558152 0.00994
NM_139057.4(ADAMTS17):c.*743G>A rs74036641 0.00963
NM_139057.4(ADAMTS17):c.*2352C>G rs138578029 0.00953
NM_139057.4(ADAMTS17):c.*116T>C rs143850369 0.00911
NM_139057.4(ADAMTS17):c.1651G>A (p.Ala551Thr) rs61754841 0.00851
NM_139057.4(ADAMTS17):c.*1565G>C rs60803373 0.00732
NM_139057.4(ADAMTS17):c.*1992G>A rs114383018 0.00697
NM_139057.4(ADAMTS17):c.2700G>A (p.Thr900=) rs149373184 0.00592
NM_139057.4(ADAMTS17):c.2591+14T>G rs75585294 0.00566
NM_139057.4(ADAMTS17):c.*2453C>T rs141023547 0.00558
NM_139057.4(ADAMTS17):c.2171G>A (p.Ser724Asn) rs73474408 0.00554
NM_139057.4(ADAMTS17):c.2901C>T (p.Cys967=) rs140384823 0.00385
NM_139057.4(ADAMTS17):c.441C>G (p.Ala147=) rs375900400 0.00324
NM_139057.4(ADAMTS17):c.*671C>T rs76681073 0.00083
NM_139057.4(ADAMTS17):c.*1859C>T rs79741636 0.00080
NM_139057.4(ADAMTS17):c.*692G>C rs187035332 0.00036
NM_139057.4(ADAMTS17):c.*425C>A rs574877864 0.00029
NM_139057.4(ADAMTS17):c.1840C>T (p.Arg614Trp) rs200745301 0.00004
NM_139057.4(ADAMTS17):c.*1741A>T rs542106384 0.00001
NM_139057.4(ADAMTS17):c.*1014_*1019del rs11277519
NM_139057.4(ADAMTS17):c.*1227AAGG[1] rs10549565
NM_139057.4(ADAMTS17):c.*1419G>A rs75143725
NM_139057.4(ADAMTS17):c.*1773G>T rs74037057
NM_139057.4(ADAMTS17):c.*2013T>G rs2727194
NM_139057.4(ADAMTS17):c.*2354C>T rs8036076
NM_139057.4(ADAMTS17):c.*429A>C rs2581346
NM_139057.4(ADAMTS17):c.*498A>C rs2573651
NM_139057.4(ADAMTS17):c.*567G>A rs2573649
NM_139057.4(ADAMTS17):c.*567G>C rs2573649
NM_139057.4(ADAMTS17):c.*882G>C rs2581358
NM_139057.4(ADAMTS17):c.*99A>G rs58960452
NM_139057.4(ADAMTS17):c.-19del rs150933882
NM_139057.4(ADAMTS17):c.-20G>T rs569251254
NM_139057.4(ADAMTS17):c.1337C>T (p.Thr446Ile) rs72755233
NM_139057.4(ADAMTS17):c.2518G>A (p.Asp840Asn) rs147316982
NM_139057.4(ADAMTS17):c.3138C>T (p.Thr1046=) rs112214202

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