ClinVar Miner

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

Included ClinVar conditions (133):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 184
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HGVS dbSNP gnomAD frequency
NM_003977.4(AIP):c.920= (p.Arg307=) rs4930199 0.99984
NM_058172.6(ANTXR2):c.*3695T>C rs4611863 0.98122
NM_000388.4(CASR):c.*574C>G rs6438718 0.96802
NM_003977.4(AIP):c.682C>A (p.Gln228Lys) rs641081 0.84113
NM_058172.6(ANTXR2):c.*1521A>G rs7747 0.80751
NM_058172.6(ANTXR2):c.*784T>G rs1139638 0.80420
NM_058172.6(ANTXR2):c.*785T>C rs63539261 0.80416
NM_058172.6(ANTXR2):c.378+8A>C rs4594664 0.61456
NM_058172.6(ANTXR2):c.*4272C>T rs56708107 0.57619
NM_000388.4(CASR):c.*1198T>C rs10190 0.54750
NM_207122.1(EXT2):c.-311G>A rs3923808 0.50004
NM_002451.4(MTAP):c.*3829T>C rs6475592 0.44086
NM_002451.4(MTAP):c.*884T>A rs1134871 0.44065
NM_002451.4(MTAP):c.*2365C>T rs10117550 0.43789
NM_002451.4(MTAP):c.166G>A (p.Val56Ile) rs7023954 0.42302
NM_002451.4(MTAP):c.*258A>C rs15735 0.40160
NM_058172.6(ANTXR2):c.-82C>A rs13140055 0.38249
NM_000127.3(EXT1):c.1761G>A (p.Glu587=) rs7837891 0.36094
NM_058172.6(ANTXR2):c.*4056T>A rs11946205 0.31619
NM_000388.4(CASR):c.*1015A>G rs9740 0.27327
NM_207122.1(EXT2):c.-331T>C rs10458911 0.25844
NM_002451.4(MTAP):c.*2085G>A rs10117507 0.24202
NM_000127.3(EXT1):c.1065C>T (p.Cys355=) rs11546829 0.23625
NM_002451.4(MTAP):c.*3093T>C rs4977735 0.21917
NM_002451.4(MTAP):c.*3946A>C rs10965168 0.21553
NM_002451.4(MTAP):c.*2522A>G rs3802394 0.21540
NM_058172.6(ANTXR2):c.-319C>G rs11557908 0.18441
NM_058172.6(ANTXR2):c.-410G>A rs72869605 0.18258
NM_000127.3(EXT1):c.1431C>T (p.Pro477=) rs17439693 0.17547
NM_000388.4(CASR):c.*1093C>T rs1802757 0.17297
NM_058172.6(ANTXR2):c.*1671T>G rs2760 0.11504
NM_058172.6(ANTXR2):c.*5602C>G rs4331719 0.10728
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser) rs1801725 0.10682
NM_002451.4(MTAP):c.*536G>A rs1134870 0.09270
NM_207122.2(EXT2):c.-31+7G>T rs58861092 0.08791
NM_000388.4(CASR):c.2968A>G (p.Arg990Gly) rs1042636 0.08688
NM_058172.6(ANTXR2):c.*28C>T rs61048419 0.08261
NM_058172.6(ANTXR2):c.1395G>A (p.Arg465=) rs35798108 0.06853
NM_000388.4(CASR):c.*1235A>G rs34042920 0.06757
NM_000127.3(EXT1):c.-722T>C rs192302720 0.06363
NM_058172.6(ANTXR2):c.-230_-229del rs80314910 0.06101
NM_002451.4(MTAP):c.561C>T (p.Arg187=) rs10965163 0.05936
NM_002451.4(MTAP):c.*797C>T rs58555715 0.05202
NM_000127.3(EXT1):c.-266C>T rs76805972 0.04072
NM_058172.6(ANTXR2):c.*1663G>A rs113322831 0.03500
NM_003977.4(AIP):c.516C>T (p.Asp172=) rs2276020 0.03152
NM_002451.4(MTAP):c.*3916C>T rs80226037 0.02945
NM_002451.4(MTAP):c.*2539A>G rs10123713 0.02620
NM_003977.4(AIP):c.132C>T (p.Asp44=) rs11822907 0.02357
NM_000127.3(EXT1):c.-635C>T rs188740055 0.02060
NM_002451.4(MTAP):c.*2255A>G rs79020697 0.02054
NM_058172.6(ANTXR2):c.*677C>T rs149404014 0.01921
NM_024529.5(CDC73):c.*1267A>G rs78218016 0.01764
NM_000127.3(EXT1):c.114A>G (p.Glu38=) rs17506447 0.01623
NM_058172.6(ANTXR2):c.-590A>T rs142313419 0.01544
NM_000127.3(EXT1):c.-509C>G rs78824154 0.01491
NM_000388.4(CASR):c.1333A>G (p.Thr445Ala) rs12493789 0.01436
NM_058172.6(ANTXR2):c.225-4G>A rs141355689 0.01410
NM_002451.4(MTAP):c.*657T>C rs146095448 0.01370
NM_207122.2(EXT2):c.264C>T (p.His88=) rs35455466 0.01345
NM_002451.4(MTAP):c.*2873C>T rs75664572 0.01292
NM_207122.2(EXT2):c.999T>C (p.Asp333=) rs61733300 0.01271
NM_024529.5(CDC73):c.*580A>T rs191600804 0.01264
NM_002451.4(MTAP):c.*3851C>G rs76751525 0.01197
NM_058172.6(ANTXR2):c.331C>T (p.Arg111Cys) rs61741646 0.01167
NM_024529.5(CDC73):c.*2950A>G rs144681513 0.01153
NM_024529.5(CDC73):c.*3507G>T rs151216299 0.01140
NM_058172.6(ANTXR2):c.796+9C>T rs113482034 0.01026
NM_002451.4(MTAP):c.*1181A>G rs182505150 0.00948
NM_002451.4(MTAP):c.*3144G>A rs148910202 0.00907
NM_002451.4(MTAP):c.*1341C>T rs111408881 0.00837
NM_207122.2(EXT2):c.*472C>T rs74424177 0.00819
NM_058172.6(ANTXR2):c.808G>A (p.Val270Ile) rs113707133 0.00790
NM_058172.6(ANTXR2):c.*5547T>C rs114779758 0.00613
NM_003977.4(AIP):c.*64G>A rs115346238 0.00596
NM_003977.4(AIP):c.*60G>C rs146014363 0.00566
NM_002451.4(MTAP):c.*1936C>T rs117552951 0.00557
NM_003977.4(AIP):c.891C>A (p.Ala297=) rs35665586 0.00545
NM_207122.2(EXT2):c.1110G>T (p.Met370Ile) rs34084767 0.00538
NM_002451.4(MTAP):c.768T>G (p.Pro256=) rs62556500 0.00511
NM_024529.5(CDC73):c.1185A>G (p.Gln395=) rs116358657 0.00511
NM_002451.4(MTAP):c.*393G>C rs78389853 0.00498
NM_002451.4(MTAP):c.*1643G>T rs79546636 0.00491
NM_207122.2(EXT2):c.-148G>A rs115238130 0.00479
NM_058172.6(ANTXR2):c.*1558C>T rs150281545 0.00454
NM_024529.5(CDC73):c.*2304T>G rs144363422 0.00424
NM_000127.3(EXT1):c.1959G>A (p.Glu653=) rs142710059 0.00404
NM_002451.4(MTAP):c.*3862C>T rs560167088 0.00339
NM_002451.4(MTAP):c.*707A>G rs138936486 0.00275
NM_002451.4(MTAP):c.*1038A>G rs180861815 0.00264
NM_002451.4(MTAP):c.*804T>C rs142144597 0.00253
NM_000127.3(EXT1):c.-324C>G rs144282710 0.00224
NM_024529.5(CDC73):c.*2085G>C rs150030810 0.00217
NM_024529.5(CDC73):c.*518A>G rs190433473 0.00195
NM_207122.2(EXT2):c.2019-14T>C rs141747687 0.00173
NM_002451.4(MTAP):c.*3307G>T rs41270139 0.00172
NM_002451.4(MTAP):c.*895G>A rs41270137 0.00170
NM_207122.2(EXT2):c.918C>T (p.Phe306=) rs35436405 0.00139
NM_024529.5(CDC73):c.-95G>A rs143969598 0.00133
NM_207122.2(EXT2):c.*646C>T rs189528648 0.00131
NM_000388.4(CASR):c.1775A>G (p.Asn592Ser) rs117375173 0.00128
NM_003977.4(AIP):c.68G>A (p.Gly23Glu) rs116940576 0.00115
NM_002451.4(MTAP):c.691-13A>G rs77412364 0.00093
NM_207122.2(EXT2):c.1641C>T (p.Asp547=) rs75987184 0.00088
NM_003977.4(AIP):c.-84C>G rs540839310 0.00086
NM_003977.4(AIP):c.301G>A (p.Val101Met) rs147931650 0.00085
NM_207122.2(EXT2):c.965G>A (p.Arg322His) rs149727518 0.00076
NM_000388.4(CASR):c.1285C>T (p.His429Tyr) rs142818334 0.00073
NM_024529.5(CDC73):c.*3524A>G rs548190260 0.00071
NM_024529.5(CDC73):c.1032T>G (p.Val344=) rs148612206 0.00070
NM_000127.3(EXT1):c.1359C>T (p.Phe453=) rs148922894 0.00067
NM_003977.4(AIP):c.-23A>G rs200665479 0.00064
NM_002451.4(MTAP):c.*2238C>T rs150727017 0.00063
NM_000127.3(EXT1):c.1782G>A (p.Ala594=) rs61753261 0.00058
NM_000127.3(EXT1):c.1779C>T (p.Pro593=) rs143881630 0.00056
NM_024529.5(CDC73):c.-11G>A rs80356643 0.00056
NM_002451.4(MTAP):c.*1065A>G rs187215052 0.00049
NM_002451.4(MTAP):c.*328T>C rs150414950 0.00048
NM_207122.2(EXT2):c.1534G>T (p.Val512Leu) rs147753803 0.00048
NM_003977.4(AIP):c.36G>A (p.Gly12=) rs79662690 0.00038
NM_002451.4(MTAP):c.*1729G>A rs182527165 0.00036
NM_207122.2(EXT2):c.744-10T>G rs200943294 0.00036
NM_003977.4(AIP):c.517G>A (p.Glu173Lys) rs138902236 0.00034
NM_207122.2(EXT2):c.260T>G (p.Met87Arg) rs140075817 0.00031
NM_002451.4(MTAP):c.653C>T (p.Ala218Val) rs143080527 0.00030
NM_002451.4(MTAP):c.121-10T>C rs201864201 0.00026
NM_002451.4(MTAP):c.179+12T>A rs369294437 0.00025
NM_207122.2(EXT2):c.1645C>T (p.Leu549=) rs142565472 0.00025
NM_024529.5(CDC73):c.-10G>T rs188082584 0.00024
NM_002451.4(MTAP):c.39A>C (p.Gly13=) rs139020435 0.00023
NM_000388.4(CASR):c.*87C>T rs202045621 0.00020
NM_002451.4(MTAP):c.566G>T (p.Trp189Leu) rs184520335 0.00019
NM_024529.5(CDC73):c.*1833A>G rs150894778 0.00018
NM_000388.4(CASR):c.573G>A (p.Glu191=) rs141631116 0.00016
NM_003977.4(AIP):c.753G>A (p.Leu251=) rs147351993 0.00016
NM_207122.2(EXT2):c.889C>T (p.Arg297Cys) rs146098187 0.00014
NM_024529.5(CDC73):c.*2427T>C rs372585994 0.00013
NM_002451.4(MTAP):c.-5C>G rs375344882 0.00010
NM_024529.5(CDC73):c.*2677G>A rs192018514 0.00010
NM_000127.3(EXT1):c.-500T>G rs372210548 0.00009
NM_002451.4(MTAP):c.136A>C (p.Ile46Leu) rs750076531 0.00009
NM_024529.5(CDC73):c.*1499T>A rs138503809 0.00009
NM_207122.2(EXT2):c.605C>T (p.Ala202Val) rs771803942 0.00007
NM_002451.4(MTAP):c.315C>T (p.Gly105=) rs147319145 0.00006
NM_024529.5(CDC73):c.*1083A>T rs367704451 0.00006
NM_207122.2(EXT2):c.1249C>T (p.Arg417Trp) rs540229057 0.00006
NM_207122.2(EXT2):c.201G>A (p.Pro67=) rs201374853 0.00006
NM_002451.4(MTAP):c.*1225G>A rs556119629 0.00004
NM_002451.4(MTAP):c.603G>A (p.Glu201=) rs189392570 0.00004
NM_002451.4(MTAP):c.*606A>G rs566061531 0.00003
NM_002451.4(MTAP):c.111A>G (p.Pro37=) rs774955664 0.00003
NM_003977.4(AIP):c.366C>T (p.Cys122=) rs748883061 0.00002
NM_002451.4(MTAP):c.*17A>G rs553057304 0.00001
NM_002451.4(MTAP):c.*2188C>T rs117300281 0.00001
NM_003977.4(AIP):c.144C>T (p.Thr48=) rs772658134 0.00001
NM_003977.4(AIP):c.571C>T (p.Arg191Cys) rs189861025 0.00001
NM_024529.5(CDC73):c.*3063G>A rs182545034 0.00001
NM_024529.5(CDC73):c.534A>G (p.Ser178=) rs150365980 0.00001
NM_207122.2(EXT2):c.*3C>T rs542907948 0.00001
NM_207122.2(EXT2):c.1123A>G (p.Ser375Gly) rs369029338 0.00001
NM_000388.4(CASR):c.*188dup rs33974189
NM_000388.4(CASR):c.*60A>T rs4677948
NM_000388.4(CASR):c.78C>G (p.Ala26=) rs77852524
NM_002451.4(MTAP):c.*15C>A rs754086497
NM_002451.4(MTAP):c.*1622del rs11358276
NM_002451.4(MTAP):c.*2279T>G rs529226542
NM_002451.4(MTAP):c.*2348dup rs397972510
NM_002451.4(MTAP):c.*259C>A rs78195856
NM_002451.4(MTAP):c.*775dup rs58147941
NM_024529.5(CDC73):c.*3786T>A rs74130943
NM_024529.5(CDC73):c.*3786T>C rs74130943
NM_058172.6(ANTXR2):c.*336C>T rs4690108
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.637-10del rs373672335
NM_207122.2(EXT2):c.*795C>A rs76505631
NM_207122.2(EXT2):c.*802A>G rs531942530
NM_207122.2(EXT2):c.-197C>G rs78395259
NM_207122.2(EXT2):c.-61C>G rs12800404
NM_207122.2(EXT2):c.1250G>A (p.Arg417Gln) rs753542290
NM_207122.2(EXT2):c.28C>A (p.Arg10=) rs4755228
NM_207122.2(EXT2):c.519G>C (p.Ala173=) rs148121594
NM_207122.2(EXT2):c.520A>C (p.Met174Leu) rs111589746

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