ClinVar Miner

List of variants reported as uncertain significance for Weill-Marchesani syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 312
Download table as spreadsheet
HGVS dbSNP
NM_000138.4(FBN1):c.*1007G>T rs886051236
NM_000138.4(FBN1):c.*1396C>T rs886051235
NM_000138.4(FBN1):c.*1398G>C rs886051234
NM_000138.4(FBN1):c.*1477C>A rs886051233
NM_000138.4(FBN1):c.*1635C>A rs886051232
NM_000138.4(FBN1):c.*1672G>A rs886051231
NM_000138.4(FBN1):c.*1706C>A rs770825180
NM_000138.4(FBN1):c.*1733A>G rs886051230
NM_000138.4(FBN1):c.*1943G>T rs886051229
NM_000138.4(FBN1):c.*202_*203delAT rs766125141
NM_000138.4(FBN1):c.*2078G>T rs886051228
NM_000138.4(FBN1):c.*2091G>A rs575922741
NM_000138.4(FBN1):c.*2114T>A rs886051227
NM_000138.4(FBN1):c.*2221A>G rs886051226
NM_000138.4(FBN1):c.*2260C>A rs886051225
NM_000138.4(FBN1):c.*2421C>A rs886051224
NM_000138.4(FBN1):c.*2443G>T rs886051223
NM_000138.4(FBN1):c.*2533C>A rs886051222
NM_000138.4(FBN1):c.*254C>T rs886051243
NM_000138.4(FBN1):c.*2556G>A rs886051221
NM_000138.4(FBN1):c.*2578C>T rs761025257
NM_000138.4(FBN1):c.*2594G>T rs886051220
NM_000138.4(FBN1):c.*2638T>C rs886051219
NM_000138.4(FBN1):c.*268G>C rs886051242
NM_000138.4(FBN1):c.*286C>T rs886051241
NM_000138.4(FBN1):c.*406G>T rs886051240
NM_000138.4(FBN1):c.*724A>C rs886051239
NM_000138.4(FBN1):c.*938G>T rs886051238
NM_000138.4(FBN1):c.*948G>T rs749224599
NM_000138.4(FBN1):c.*987C>T rs886051237
NM_000138.4(FBN1):c.-132A>C rs886051255
NM_000138.4(FBN1):c.-136G>C rs879283668
NM_000138.4(FBN1):c.-176A>T rs560004254
NM_000138.4(FBN1):c.-319G>T rs886051256
NM_000138.4(FBN1):c.-371T>C rs886051257
NM_000138.4(FBN1):c.-387_-384delTCTC rs886051258
NM_000138.4(FBN1):c.-70C>A rs886051253
NM_000138.4(FBN1):c.-98G>T rs886051254
NM_000138.4(FBN1):c.1193G>A (p.Arg398Lys) rs886051250
NM_000138.4(FBN1):c.1468+4C>A rs765579667
NM_000138.4(FBN1):c.1602T>C (p.Cys534=) rs377386372
NM_000138.4(FBN1):c.223C>T (p.Pro75Ser) rs886051252
NM_000138.4(FBN1):c.2903C>T (p.Thr968Ile) rs781698952
NM_000138.4(FBN1):c.3337+11G>A rs368726848
NM_000138.4(FBN1):c.4313G>A (p.Ser1438Asn) rs587782945
NM_000138.4(FBN1):c.4336+11G>A rs886051249
NM_000138.4(FBN1):c.5405A>G (p.Lys1802Arg) rs886051248
NM_000138.4(FBN1):c.5672-15C>G rs776163620
NM_000138.4(FBN1):c.5724A>G (p.Thr1908=) rs141219664
NM_000138.4(FBN1):c.5788+4C>A rs577301285
NM_000138.4(FBN1):c.589G>C (p.Gly197Arg) rs886051251
NM_000138.4(FBN1):c.6095C>G (p.Thr2032Ser) rs756506237
NM_000138.4(FBN1):c.6264G>C (p.Lys2088Asn) rs886051247
NM_000138.4(FBN1):c.6357G>C (p.Val2119=) rs886051246
NM_000138.4(FBN1):c.6801C>T (p.Asn2267=) rs886051245
NM_000138.4(FBN1):c.7056C>T (p.Ser2352=) rs149697299
NM_000138.4(FBN1):c.723G>A (p.Thr241=) rs757264206
NM_000138.4(FBN1):c.8011C>T (p.Leu2671=) rs886051244
NM_000138.4(FBN1):c.8071G>A (p.Gly2691Ser) rs145105768
NM_000138.4(FBN1):c.8202C>T (p.Asn2734=) rs113904256
NM_000428.3(LTBP2):c.*10dup rs546442756
NM_000428.3(LTBP2):c.*1170A>G rs886050749
NM_000428.3(LTBP2):c.*1180C>T rs576929018
NM_000428.3(LTBP2):c.*1302G>A rs191692241
NM_000428.3(LTBP2):c.*1302G>C rs191692241
NM_000428.3(LTBP2):c.*147A>T rs886050753
NM_000428.3(LTBP2):c.*1518_*1520dup rs565536636
NM_000428.3(LTBP2):c.*1631C>T rs183119073
NM_000428.3(LTBP2):c.*167G>A rs574028105
NM_000428.3(LTBP2):c.*1743C>T rs781717691
NM_000428.3(LTBP2):c.*2026T>C rs886050748
NM_000428.3(LTBP2):c.*206C>T rs192723743
NM_000428.3(LTBP2):c.*2266G>A rs886050747
NM_000428.3(LTBP2):c.*229C>T rs141989493
NM_000428.3(LTBP2):c.*233A>G rs886050752
NM_000428.3(LTBP2):c.*2353T>C rs552983028
NM_000428.3(LTBP2):c.*373A>G rs886050751
NM_000428.3(LTBP2):c.*55G>A rs185374765
NM_000428.3(LTBP2):c.*638T>G rs886050750
NM_000428.3(LTBP2):c.*743G>A rs541978964
NM_000428.3(LTBP2):c.-222C>G rs886050764
NM_000428.3(LTBP2):c.-33C>A rs886050760
NM_000428.3(LTBP2):c.-46G>C rs886050761
NM_000428.3(LTBP2):c.-55G>A rs571506111
NM_000428.3(LTBP2):c.-64C>T rs886050762
NM_000428.3(LTBP2):c.-93C>T rs769936231
NM_000428.3(LTBP2):c.-97C>T rs886050763
NM_000428.3(LTBP2):c.1021+14G>A rs150408645
NM_000428.3(LTBP2):c.1097G>A (p.Arg366His) rs759632617
NM_000428.3(LTBP2):c.10C>T (p.Arg4Trp) rs773927709
NM_000428.3(LTBP2):c.1132A>C (p.Thr378Pro) rs200471693
NM_000428.3(LTBP2):c.1301C>T (p.Pro434Leu) rs371940681
NM_000428.3(LTBP2):c.1485G>A (p.Arg495=) rs756729691
NM_000428.3(LTBP2):c.1531C>A (p.Pro511Thr) rs553562104
NM_000428.3(LTBP2):c.1656C>T (p.Gly552=) rs764120281
NM_000428.3(LTBP2):c.1745C>T (p.Ala582Val) rs886050759
NM_000428.3(LTBP2):c.1760C>T (p.Thr587Ile) rs886050758
NM_000428.3(LTBP2):c.1796C>T (p.Pro599Leu) rs139018077
NM_000428.3(LTBP2):c.1833G>A (p.Gly611=) rs775155970
NM_000428.3(LTBP2):c.2041G>A (p.Gly681Ser) rs373539611
NM_000428.3(LTBP2):c.2178C>T (p.Ala726=) rs144866585
NM_000428.3(LTBP2):c.2184C>T (p.His728=) rs140818407
NM_000428.3(LTBP2):c.2283C>T (p.Ser761=) rs537908823
NM_000428.3(LTBP2):c.249G>A (p.Gln83=) rs779279335
NM_000428.3(LTBP2):c.2541A>G (p.Arg847=) rs140719298
NM_000428.3(LTBP2):c.2588A>G (p.Asn863Ser) rs562124154
NM_000428.3(LTBP2):c.2657C>A (p.Thr886Lys) rs201591982
NM_000428.3(LTBP2):c.2771C>T (p.Ala924Val) rs142675579
NM_000428.3(LTBP2):c.2788+14G>A rs753628301
NM_000428.3(LTBP2):c.2788+15C>G rs376663839
NM_000428.3(LTBP2):c.2789-9T>C rs368269193
NM_000428.3(LTBP2):c.2837C>T (p.Thr946Ile) rs771319126
NM_000428.3(LTBP2):c.2852C>T (p.Ser951Leu) rs773718655
NM_000428.3(LTBP2):c.2853G>A (p.Ser951=) rs151176143
NM_000428.3(LTBP2):c.2885T>C (p.Met962Thr) rs886050757
NM_000428.3(LTBP2):c.3047C>T (p.Thr1016Ile) rs149991486
NM_000428.3(LTBP2):c.3076A>G (p.Thr1026Ala) rs759008893
NM_000428.3(LTBP2):c.3114G>A (p.Gln1038=) rs886050756
NM_000428.3(LTBP2):c.3176C>A (p.Ala1059Asp) rs369840829
NM_000428.3(LTBP2):c.3278-15G>A rs201661499
NM_000428.3(LTBP2):c.3527-14T>C rs137854886
NM_000428.3(LTBP2):c.3527-3C>A rs138194436
NM_000428.3(LTBP2):c.3558C>T (p.Cys1186=) rs757843416
NM_000428.3(LTBP2):c.3571G>A (p.Glu1191Lys) rs137854862
NM_000428.3(LTBP2):c.3753C>T (p.Ser1251=) rs763990884
NM_000428.3(LTBP2):c.3851G>A (p.Arg1284His) rs201598003
NM_000428.3(LTBP2):c.3891G>A (p.Pro1297=) rs61738013
NM_000428.3(LTBP2):c.4089C>T (p.Asn1363=) rs141318496
NM_000428.3(LTBP2):c.4203G>A (p.Thr1401=) rs150977380
NM_000428.3(LTBP2):c.4285C>T (p.Arg1429Trp) rs150484024
NM_000428.3(LTBP2):c.4467T>C (p.Cys1489=) rs80088294
NM_000428.3(LTBP2):c.4476C>T (p.Phe1492=) rs562333691
NM_000428.3(LTBP2):c.450G>T (p.Arg150=) rs111342797
NM_000428.3(LTBP2):c.4516G>A (p.Val1506Met) rs117800773
NM_000428.3(LTBP2):c.4621G>A (p.Glu1541Lys) rs143456909
NM_000428.3(LTBP2):c.4821G>A (p.Thr1607=) rs139030976
NM_000428.3(LTBP2):c.4869G>A (p.Leu1623=) rs61738022
NM_000428.3(LTBP2):c.4964A>G (p.Tyr1655Cys) rs140493259
NM_000428.3(LTBP2):c.5269T>C (p.Cys1757Arg) rs886050755
NM_000428.3(LTBP2):c.5270G>T (p.Cys1757Phe) rs886050754
NM_000428.3(LTBP2):c.5296G>T (p.Asp1766Tyr) rs772174775
NM_000428.3(LTBP2):c.800C>T (p.Ser267Leu) rs149952751
NM_000428.3(LTBP2):c.818C>T (p.Ser273Leu) rs143282840
NM_030957.4(ADAMTS10):c.*322C>T rs886054708
NM_030957.4(ADAMTS10):c.*36T>C rs782348033
NM_030957.4(ADAMTS10):c.*411C>T rs886054707
NM_030957.4(ADAMTS10):c.*449G>C rs555471852
NM_030957.4(ADAMTS10):c.*456del rs34057037
NM_030957.4(ADAMTS10):c.*456dup rs34057037
NM_030957.4(ADAMTS10):c.*81G>T rs886054709
NM_030957.4(ADAMTS10):c.*85dup rs576948646
NM_030957.4(ADAMTS10):c.-143G>C rs886054716
NM_030957.4(ADAMTS10):c.-60G>A rs573082154
NM_030957.4(ADAMTS10):c.1085-5C>T rs781831794
NM_030957.4(ADAMTS10):c.1176C>T (p.His392=) rs371013844
NM_030957.4(ADAMTS10):c.1530C>G (p.Thr510=) rs886054715
NM_030957.4(ADAMTS10):c.1568C>T (p.Thr523Met) rs782308360
NM_030957.4(ADAMTS10):c.1569G>A (p.Thr523=) rs150203950
NM_030957.4(ADAMTS10):c.1794G>C (p.Thr598=) rs145420448
NM_030957.4(ADAMTS10):c.1880A>C (p.Lys627Thr) rs782712334
NM_030957.4(ADAMTS10):c.1935G>A (p.Ala645=) rs200551849
NM_030957.4(ADAMTS10):c.1987C>A (p.Pro663Thr) rs886054714
NM_030957.4(ADAMTS10):c.1994G>A (p.Arg665His) rs370179236
NM_030957.4(ADAMTS10):c.2005G>T (p.Val669Leu) rs144596955
NM_030957.4(ADAMTS10):c.2125G>A (p.Glu709Lys) rs550588972
NM_030957.4(ADAMTS10):c.2220C>T (p.Asn740=) rs886054713
NM_030957.4(ADAMTS10):c.2239+10T>C rs782597342
NM_030957.4(ADAMTS10):c.2261C>T (p.Ser754Phe) rs142353301
NM_030957.4(ADAMTS10):c.2409G>C (p.Leu803=) rs61757472
NM_030957.4(ADAMTS10):c.2433C>T (p.Leu811=) rs886054712
NM_030957.4(ADAMTS10):c.2530+9G>A rs782625211
NM_030957.4(ADAMTS10):c.303C>T (p.His101=) rs141630862
NM_030957.4(ADAMTS10):c.3043-8C>T rs759098979
NM_030957.4(ADAMTS10):c.3159T>C (p.Cys1053=) rs886054711
NM_030957.4(ADAMTS10):c.3202+13C>T rs886054710
NM_030957.4(ADAMTS10):c.3268G>A (p.Ala1090Thr) rs782053556
NM_030957.4(ADAMTS10):c.613C>T (p.Arg205Trp) rs147270233
NM_030957.4(ADAMTS10):c.834G>A (p.Ser278=) rs782449192
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.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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