ClinVar Miner

List of variants reported as benign for connective tissue neoplasm by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 168
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HGVS dbSNP
NM_000127.2(EXT1):c.-266C>T rs76805972
NM_000127.2(EXT1):c.-324C>G rs144282710
NM_000127.2(EXT1):c.-500T>G rs372210548
NM_000127.2(EXT1):c.-509C>G rs78824154
NM_000127.2(EXT1):c.-635C>T rs188740055
NM_000127.2(EXT1):c.-722T>C rs192302720
NM_000127.2(EXT1):c.1065C>T (p.Cys355=) rs11546829
NM_000127.2(EXT1):c.114A>G (p.Glu38=) rs17506447
NM_000127.2(EXT1):c.1359C>T (p.Phe453=) rs148922894
NM_000127.2(EXT1):c.1431C>T (p.Pro477=) rs17439693
NM_000127.2(EXT1):c.1761G>A (p.Glu587=) rs7837891
NM_000127.2(EXT1):c.1779C>T (p.Pro593=) rs143881630
NM_000127.2(EXT1):c.1782G>A (p.Ala594=) rs61753261
NM_000127.2(EXT1):c.1959G>A (p.Glu653=) rs142710059
NM_000388.4(CASR):c.*1015A>G rs9740
NM_000388.4(CASR):c.*1093C>T rs1802757
NM_000388.4(CASR):c.*1198T>C rs10190
NM_000388.4(CASR):c.*1235A>G rs34042920
NM_000388.4(CASR):c.*188dup rs33974189
NM_000388.4(CASR):c.*574C>G rs6438718
NM_000388.4(CASR):c.*60A>T rs4677948
NM_000388.4(CASR):c.*87C>T rs202045621
NM_000388.4(CASR):c.1285C>T (p.His429Tyr) rs142818334
NM_000388.4(CASR):c.1333A>G (p.Thr445Ala) rs12493789
NM_000388.4(CASR):c.1775A>G (p.Asn592Ser) rs117375173
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser) rs1801725
NM_000388.4(CASR):c.2968A>G (p.Arg990Gly) rs1042636
NM_000388.4(CASR):c.573G>A (p.Glu191=) rs141631116
NM_000388.4(CASR):c.78C>G (p.Ala26=) rs77852524
NM_000401.3(EXT2):c.*3C>T rs542907948
NM_000401.3(EXT2):c.*472C>T rs74424177
NM_000401.3(EXT2):c.*646C>T rs189528648
NM_000401.3(EXT2):c.*795C>A rs76505631
NM_000401.3(EXT2):c.*802A>G rs531942530
NM_000401.3(EXT2):c.1017C>T (p.Phe339=) rs35436405
NM_000401.3(EXT2):c.1064G>A (p.Arg355His) rs149727518
NM_000401.3(EXT2):c.1098T>C (p.Asp366=) rs61733300
NM_000401.3(EXT2):c.1209G>T (p.Met403Ile) rs34084767
NM_000401.3(EXT2):c.1222A>G (p.Ser408Gly) rs369029338
NM_000401.3(EXT2):c.127C>A (p.Arg43=) rs4755228
NM_000401.3(EXT2):c.1633G>T (p.Val545Leu) rs147753803
NM_000401.3(EXT2):c.1740C>T (p.Asp580=) rs75987184
NM_000401.3(EXT2):c.1744C>T (p.Leu582=) rs142565472
NM_000401.3(EXT2):c.359T>G (p.Met120Arg) rs140075817
NM_000401.3(EXT2):c.363C>T (p.His121=) rs35455466
NM_000401.3(EXT2):c.618G>C (p.Ala206=) rs148121594
NM_000401.3(EXT2):c.619A>C (p.Met207Leu) rs111589746
NM_000401.3(EXT2):c.843-10T>G rs200943294
NM_000460.4(THPO):c.*35G>A rs6141
NM_000460.4(THPO):c.*482A>T rs3804618
NM_000460.4(THPO):c.*59G>A rs78565404
NM_000460.4(THPO):c.-136T>C rs956732
NM_000460.4(THPO):c.1030A>G (p.Thr344Ala) rs35794435
NM_002451.4(MTAP):c.*1038A>G rs180861815
NM_002451.4(MTAP):c.*1065A>G rs187215052
NM_002451.4(MTAP):c.*1181A>G rs182505150
NM_002451.4(MTAP):c.*1225G>A rs556119629
NM_002451.4(MTAP):c.*1341C>T rs111408881
NM_002451.4(MTAP):c.*15C>A
NM_002451.4(MTAP):c.*1622del rs11358276
NM_002451.4(MTAP):c.*1643G>T rs79546636
NM_002451.4(MTAP):c.*1729G>A rs182527165
NM_002451.4(MTAP):c.*17A>G rs553057304
NM_002451.4(MTAP):c.*1936C>T rs117552951
NM_002451.4(MTAP):c.*2085G>A rs10117507
NM_002451.4(MTAP):c.*2188C>T
NM_002451.4(MTAP):c.*2238C>T rs150727017
NM_002451.4(MTAP):c.*2255A>G rs79020697
NM_002451.4(MTAP):c.*2279T>G rs529226542
NM_002451.4(MTAP):c.*2348dup rs397972510
NM_002451.4(MTAP):c.*2365C>T rs10117550
NM_002451.4(MTAP):c.*2522A>G rs3802394
NM_002451.4(MTAP):c.*2539A>G rs10123713
NM_002451.4(MTAP):c.*258A>C rs15735
NM_002451.4(MTAP):c.*259C>A rs78195856
NM_002451.4(MTAP):c.*2873C>T rs75664572
NM_002451.4(MTAP):c.*3093T>C rs4977735
NM_002451.4(MTAP):c.*3144G>A rs148910202
NM_002451.4(MTAP):c.*328T>C rs150414950
NM_002451.4(MTAP):c.*3307G>T rs41270139
NM_002451.4(MTAP):c.*3829T>C rs6475592
NM_002451.4(MTAP):c.*3851C>G rs76751525
NM_002451.4(MTAP):c.*3862C>T rs560167088
NM_002451.4(MTAP):c.*3916C>T rs80226037
NM_002451.4(MTAP):c.*393G>C rs78389853
NM_002451.4(MTAP):c.*3946A>C rs10965168
NM_002451.4(MTAP):c.*536G>A rs1134870
NM_002451.4(MTAP):c.*606A>G rs566061531
NM_002451.4(MTAP):c.*657T>C rs146095448
NM_002451.4(MTAP):c.*707A>G rs138936486
NM_002451.4(MTAP):c.*775dup rs58147941
NM_002451.4(MTAP):c.*797C>T rs58555715
NM_002451.4(MTAP):c.*804T>C rs142144597
NM_002451.4(MTAP):c.*884T>A rs1134871
NM_002451.4(MTAP):c.*895G>A rs41270137
NM_002451.4(MTAP):c.-5C>G rs375344882
NM_002451.4(MTAP):c.111A>G (p.Pro37=)
NM_002451.4(MTAP):c.121-10T>C rs201864201
NM_002451.4(MTAP):c.136A>C (p.Ile46Leu)
NM_002451.4(MTAP):c.166G>A (p.Val56Ile) rs7023954
NM_002451.4(MTAP):c.179+12T>A rs369294437
NM_002451.4(MTAP):c.315C>T (p.Gly105=) rs147319145
NM_002451.4(MTAP):c.39A>C (p.Gly13=) rs139020435
NM_002451.4(MTAP):c.561C>T (p.Arg187=) rs10965163
NM_002451.4(MTAP):c.566G>T (p.Trp189Leu) rs184520335
NM_002451.4(MTAP):c.603G>A (p.Glu201=) rs189392570
NM_002451.4(MTAP):c.653C>T (p.Ala218Val) rs143080527
NM_002451.4(MTAP):c.691-13A>G rs77412364
NM_002451.4(MTAP):c.768T>G (p.Pro256=) rs62556500
NM_003977.4(AIP):c.*60G>C rs146014363
NM_003977.4(AIP):c.*64G>A rs115346238
NM_003977.4(AIP):c.-23A>G rs200665479
NM_003977.4(AIP):c.-84C>G rs540839310
NM_003977.4(AIP):c.132C>T (p.Asp44=) rs11822907
NM_003977.4(AIP):c.144C>T (p.Thr48=) rs772658134
NM_003977.4(AIP):c.301G>A (p.Val101Met) rs147931650
NM_003977.4(AIP):c.366C>T (p.Cys122=) rs748883061
NM_003977.4(AIP):c.36G>A (p.Gly12=) rs79662690
NM_003977.4(AIP):c.516C>T (p.Asp172=) rs2276020
NM_003977.4(AIP):c.517G>A (p.Glu173Lys) rs138902236
NM_003977.4(AIP):c.571C>T (p.Arg191Cys) rs189861025
NM_003977.4(AIP):c.682C>A (p.Gln228Lys) rs641081
NM_003977.4(AIP):c.68G>A (p.Gly23Glu) rs116940576
NM_003977.4(AIP):c.753G>A (p.Leu251=) rs147351993
NM_003977.4(AIP):c.891C>A (p.Ala297=) rs35665586
NM_003977.4(AIP):c.920= (p.Arg307=) rs4930199
NM_005373.2(MPL):c.690A>G (p.Glu230=) rs16830693
NM_058172.6(ANTXR2):c.*1521A>G
NM_058172.6(ANTXR2):c.*1558C>T
NM_058172.6(ANTXR2):c.*1663G>A
NM_058172.6(ANTXR2):c.*1671T>G
NM_058172.6(ANTXR2):c.*28C>T
NM_058172.6(ANTXR2):c.*336C>T
NM_058172.6(ANTXR2):c.*3695T>C
NM_058172.6(ANTXR2):c.*4056T>A
NM_058172.6(ANTXR2):c.*4272C>T
NM_058172.6(ANTXR2):c.*5547T>C
NM_058172.6(ANTXR2):c.*5602C>G
NM_058172.6(ANTXR2):c.*677C>T
NM_058172.6(ANTXR2):c.*784T>G
NM_058172.6(ANTXR2):c.*785T>C
NM_058172.6(ANTXR2):c.-230_-229del rs80314910
NM_058172.6(ANTXR2):c.-319C>G rs11557908
NM_058172.6(ANTXR2):c.-410G>A rs72869605
NM_058172.6(ANTXR2):c.-590A>T rs142313419
NM_058172.6(ANTXR2):c.-82C>A rs13140055
NM_058172.6(ANTXR2):c.1068C>A (p.Pro356=) rs72653288
NM_058172.6(ANTXR2):c.1068C>G (p.Pro356=) rs72653288
NM_058172.6(ANTXR2):c.1069G>C (p.Ala357Pro) rs12647691
NM_058172.6(ANTXR2):c.1395G>A (p.Arg465=) rs35798108
NM_058172.6(ANTXR2):c.225-4G>A rs141355689
NM_058172.6(ANTXR2):c.331C>T (p.Arg111Cys) rs61741646
NM_058172.6(ANTXR2):c.378+8A>C rs4594664
NM_058172.6(ANTXR2):c.637-10del rs373672335
NM_058172.6(ANTXR2):c.796+9C>T rs113482034
NM_058172.6(ANTXR2):c.808G>A (p.Val270Ile) rs113707133
NM_207122.1(EXT2):c.-148G>A rs115238130
NM_207122.1(EXT2):c.-197C>G rs78395259
NM_207122.1(EXT2):c.-31+7G>T rs58861092
NM_207122.1(EXT2):c.-311G>A rs3923808
NM_207122.1(EXT2):c.-331T>C rs10458911
NM_207122.1(EXT2):c.-61C>G rs12800404
NM_207122.2(EXT2):c.1249C>T (p.Arg417Trp)
NM_207122.2(EXT2):c.1250G>A (p.Arg417Gln)
NM_207122.2(EXT2):c.2019-14T>C
NM_207122.2(EXT2):c.201G>A (p.Pro67=)
NM_207122.2(EXT2):c.605C>T (p.Ala202Val)
NM_207122.2(EXT2):c.889C>T (p.Arg297Cys)

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