ClinVar Miner

List of variants in gene EXT2 reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 212
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_207122.2(EXT2):c.1305+254G>C rs12791572 0.03058
NM_207122.2(EXT2):c.-31+474G>A rs112082531 0.02206
NM_207122.2(EXT2):c.124A>G (p.Met42Val) rs4755779 0.01478
NM_207122.2(EXT2):c.-30-80A>C rs75844681 0.01471
NM_207122.2(EXT2):c.1761G>A (p.Thr587=) rs16937864 0.01303
NM_207122.2(EXT2):c.999T>C (p.Asp333=) rs61733300 0.01271
NM_207122.2(EXT2):c.-31+657G>A rs74980806 0.01266
NM_207122.2(EXT2):c.940-203A>G rs111293320 0.01038
NM_207122.2(EXT2):c.1017T>C (p.Cys339=) rs11828047 0.00930
NM_207122.2(EXT2):c.1936-179C>T rs117782883 0.00722
NM_207122.2(EXT2):c.*56G>A rs77554103 0.00371
NM_207122.2(EXT2):c.*101G>C rs117755165 0.00332
NM_207122.2(EXT2):c.710C>T (p.Ser237Leu) rs139525250 0.00236
NM_207122.2(EXT2):c.1178G>A (p.Arg393Gln) rs138187791 0.00113
NM_207122.2(EXT2):c.1588G>A (p.Glu530Lys) rs148711133 0.00079
NM_207122.2(EXT2):c.965G>A (p.Arg322His) rs149727518 0.00076
NM_207122.2(EXT2):c.358G>A (p.Val120Ile) rs115948531 0.00070
NM_207122.2(EXT2):c.1760C>T (p.Thr587Met) rs138495222 0.00063
NM_207122.2(EXT2):c.1005A>G (p.Leu335=) rs141977888 0.00058
NM_207122.2(EXT2):c.1534G>T (p.Val512Leu) rs147753803 0.00048
NM_207122.2(EXT2):c.1087G>A (p.Val363Met) rs138943091 0.00046
NM_207122.2(EXT2):c.1022C>T (p.Pro341Leu) rs141035971 0.00044
NM_207122.2(EXT2):c.1527A>G (p.Leu509=) rs145649534 0.00039
NM_207122.2(EXT2):c.744-10T>G rs200943294 0.00036
NM_207122.2(EXT2):c.1912G>A (p.Val638Ile) rs145024832 0.00031
NM_207122.2(EXT2):c.260T>G (p.Met87Arg) rs140075817 0.00031
NM_207122.2(EXT2):c.1806+11G>A rs372517964 0.00029
NM_207122.2(EXT2):c.509C>T (p.Thr170Ile) rs113846849 0.00029
NM_207122.2(EXT2):c.843A>G (p.Leu281=) rs111320923 0.00027
NM_207122.2(EXT2):c.1645C>T (p.Leu549=) rs142565472 0.00025
NM_207122.2(EXT2):c.939+19C>G rs370017441 0.00025
NM_207122.2(EXT2):c.444C>T (p.Asn148=) rs145884580 0.00024
NM_207122.2(EXT2):c.1519G>A (p.Val507Ile) rs567445428 0.00022
NM_207122.2(EXT2):c.2013G>A (p.Val671=) rs371019537 0.00020
NM_207122.2(EXT2):c.896G>A (p.Arg299His) rs76901081 0.00020
NM_207122.2(EXT2):c.1554G>A (p.Lys518=) rs144238557 0.00018
NM_207122.2(EXT2):c.889C>T (p.Arg297Cys) rs146098187 0.00014
NM_207122.2(EXT2):c.*129C>G rs141864253 0.00011
NM_207122.2(EXT2):c.*139C>G rs191451519 0.00011
NM_207122.2(EXT2):c.1916C>T (p.Thr639Met) rs138722406 0.00010
NM_207122.2(EXT2):c.1685G>A (p.Arg562Gln) rs140561784 0.00008
NM_207122.2(EXT2):c.182G>A (p.Arg61His) rs151228794 0.00006
NM_207122.2(EXT2):c.357C>T (p.Gly119=) rs753325648 0.00006
NM_207122.2(EXT2):c.284G>A (p.Arg95His) rs143703574 0.00005
NM_207122.2(EXT2):c.588C>T (p.Pro196=) rs200009614 0.00005
NM_207122.2(EXT2):c.8C>T (p.Ala3Val) rs201185639 0.00005
NM_207122.2(EXT2):c.1704T>A (p.Gly568=) rs145878394 0.00004
NM_207122.2(EXT2):c.382C>T (p.Arg128Trp) rs200613371 0.00004
NM_207122.2(EXT2):c.849C>T (p.Leu283=) rs749093709 0.00004
NM_207122.2(EXT2):c.1023G>A (p.Pro341=) rs757323768 0.00003
NM_207122.2(EXT2):c.1080-6C>T rs752180821 0.00003
NM_207122.2(EXT2):c.1194G>A (p.Ala398=) rs1011914306 0.00003
NM_207122.2(EXT2):c.1935+11C>G rs764143899 0.00003
NM_207122.2(EXT2):c.2052C>T (p.Phe684=) rs746317053 0.00003
NM_207122.2(EXT2):c.383G>A (p.Arg128Gln) rs771039412 0.00003
NM_207122.2(EXT2):c.699T>C (p.Tyr233=) rs1319747883 0.00003
NM_207122.2(EXT2):c.11C>T (p.Ser4Leu) rs527624522 0.00002
NM_207122.2(EXT2):c.1587C>T (p.Ile529=) rs765251957 0.00002
NM_207122.2(EXT2):c.1642G>A (p.Glu548Lys) rs1804679 0.00002
NM_207122.2(EXT2):c.2018+17C>T rs375554352 0.00002
NM_207122.2(EXT2):c.743+10A>C rs762753229 0.00002
NM_207122.2(EXT2):c.93C>T (p.Ser31=) rs747830835 0.00002
NM_207122.2(EXT2):c.1003T>C (p.Leu335=) rs766467969 0.00001
NM_207122.2(EXT2):c.1173+18G>A rs760436963 0.00001
NM_207122.2(EXT2):c.1180T>G (p.Trp394Gly) rs769052712 0.00001
NM_207122.2(EXT2):c.1208T>C (p.Ile403Thr) rs530523884 0.00001
NM_207122.2(EXT2):c.1231C>T (p.Leu411=) rs914948841 0.00001
NM_207122.2(EXT2):c.1305+12C>G rs767006996 0.00001
NM_207122.2(EXT2):c.1518G>T (p.Arg506=) rs747230848 0.00001
NM_207122.2(EXT2):c.156C>G (p.Ser52=) rs766597724 0.00001
NM_207122.2(EXT2):c.1974A>G (p.Thr658=) rs1319948823 0.00001
NM_207122.2(EXT2):c.211C>T (p.Leu71=) rs766800368 0.00001
NM_207122.2(EXT2):c.2136C>T (p.Phe712=) rs575302404 0.00001
NM_207122.2(EXT2):c.219C>T (p.Ala73=) rs774620075 0.00001
NM_207122.2(EXT2):c.246T>C (p.Asp82=) rs559280035 0.00001
NM_207122.2(EXT2):c.252T>C (p.Ser84=) rs1463030663 0.00001
NM_207122.2(EXT2):c.267G>A (p.Thr89=) rs1386417457 0.00001
NM_207122.2(EXT2):c.408C>T (p.Ala136=) rs777178095 0.00001
NM_207122.2(EXT2):c.537-19A>G rs764148237 0.00001
NM_207122.2(EXT2):c.678C>T (p.Tyr226=) rs1406801697 0.00001
NM_207122.2(EXT2):c.744-11T>A rs754484381 0.00001
NM_207122.2(EXT2):c.753A>G (p.Gln251=) rs1310756667 0.00001
NM_207122.2(EXT2):c.936A>G (p.Leu312=) rs760218623 0.00001
NM_207122.2(EXT2):c.940-9T>C rs374555467 0.00001
NM_207122.2(EXT2):c.9G>A (p.Ala3=) rs774142487 0.00001
NM_207122.2(EXT2):c.*10T>C
NM_207122.2(EXT2):c.*4G>A
NM_207122.2(EXT2):c.1008A>G (p.Gln336=)
NM_207122.2(EXT2):c.1026T>C (p.Val342=)
NM_207122.2(EXT2):c.1044T>C (p.Tyr348=) rs2135020895
NM_207122.2(EXT2):c.1056C>T (p.Phe352=)
NM_207122.2(EXT2):c.1079+13T>C
NM_207122.2(EXT2):c.1079+17A>G
NM_207122.2(EXT2):c.1080-14G>A
NM_207122.2(EXT2):c.1083A>G (p.Ala361=)
NM_207122.2(EXT2):c.111C>T (p.Leu37=)
NM_207122.2(EXT2):c.1128T>C (p.Ile376=)
NM_207122.2(EXT2):c.1149A>G (p.Arg383=)
NM_207122.2(EXT2):c.1167G>A (p.Gln389=) rs2135029434
NM_207122.2(EXT2):c.1173+14171G>T
NM_207122.2(EXT2):c.1173+17T>A
NM_207122.2(EXT2):c.1173+8G>A
NM_207122.2(EXT2):c.1173+9C>T
NM_207122.2(EXT2):c.1174-14T>A
NM_207122.2(EXT2):c.1174-19A>G
NM_207122.2(EXT2):c.117C>T (p.Ala39=) rs2134965644
NM_207122.2(EXT2):c.1221C>G (p.Ala407=)
NM_207122.2(EXT2):c.1221C>T (p.Ala407=) rs1315721028
NM_207122.2(EXT2):c.1233G>A (p.Leu411=)
NM_207122.2(EXT2):c.12G>A (p.Ser4=)
NM_207122.2(EXT2):c.1305+14A>G
NM_207122.2(EXT2):c.147T>G (p.Ser49=)
NM_207122.2(EXT2):c.1496-17C>A rs1370105753
NM_207122.2(EXT2):c.1496-204_1496-195del
NM_207122.2(EXT2):c.1496-209del
NM_207122.2(EXT2):c.1518G>A (p.Arg506=)
NM_207122.2(EXT2):c.1524A>G (p.Pro508=)
NM_207122.2(EXT2):c.1524A>T (p.Pro508=)
NM_207122.2(EXT2):c.1525T>C (p.Leu509=)
NM_207122.2(EXT2):c.1575T>C (p.Pro525=) rs372914384
NM_207122.2(EXT2):c.1626T>A (p.Ile542=)
NM_207122.2(EXT2):c.1662+17_1662+18del
NM_207122.2(EXT2):c.1662+18A>G
NM_207122.2(EXT2):c.1662+20T>C
NM_207122.2(EXT2):c.1663-14G>A
NM_207122.2(EXT2):c.1669C>A (p.Arg557=) rs768532662
NM_207122.2(EXT2):c.1683C>T (p.Asp561=) rs1955909250
NM_207122.2(EXT2):c.1701G>A (p.Pro567=)
NM_207122.2(EXT2):c.1708C>T (p.Leu570=)
NM_207122.2(EXT2):c.1743G>A (p.Lys581=) rs772721212
NM_207122.2(EXT2):c.1752T>G (p.Ser584=)
NM_207122.2(EXT2):c.1764T>C (p.Asn588=) rs2135259732
NM_207122.2(EXT2):c.1773C>T (p.Ser591=)
NM_207122.2(EXT2):c.1782C>T (p.Leu594=)
NM_207122.2(EXT2):c.1803C>T (p.His601=) rs1590666591
NM_207122.2(EXT2):c.1806+16C>A
NM_207122.2(EXT2):c.1806+9G>T rs2135260004
NM_207122.2(EXT2):c.1860A>G (p.Val620=)
NM_207122.2(EXT2):c.1863T>C (p.Asp621=)
NM_207122.2(EXT2):c.18G>A (p.Lys6=) rs375300731
NM_207122.2(EXT2):c.1900C>T (p.Leu634=) rs1955932950
NM_207122.2(EXT2):c.1911C>T (p.Asn637=)
NM_207122.2(EXT2):c.1917G>A (p.Thr639=)
NM_207122.2(EXT2):c.192T>C (p.Arg64=) rs2134966282
NM_207122.2(EXT2):c.1935+19C>T
NM_207122.2(EXT2):c.1936-10C>T
NM_207122.2(EXT2):c.1936-12C>T
NM_207122.2(EXT2):c.1936-134GT[10] rs3832748
NM_207122.2(EXT2):c.1936-14T>C rs2135267767
NM_207122.2(EXT2):c.1959G>A (p.Lys653=)
NM_207122.2(EXT2):c.198G>C (p.Val66=) rs775542605
NM_207122.2(EXT2):c.2018+17C>A
NM_207122.2(EXT2):c.2028C>T (p.Cys676=)
NM_207122.2(EXT2):c.2046A>G (p.Ser682=)
NM_207122.2(EXT2):c.2103C>T (p.Tyr701=)
NM_207122.2(EXT2):c.210G>A (p.Arg70=)
NM_207122.2(EXT2):c.2130G>A (p.Lys710=) rs2135284224
NM_207122.2(EXT2):c.245A>C (p.Asp82Ala) rs534539796
NM_207122.2(EXT2):c.306C>T (p.Asn102=) rs2134967175
NM_207122.2(EXT2):c.315G>A (p.Lys105=)
NM_207122.2(EXT2):c.321T>C (p.Tyr107=)
NM_207122.2(EXT2):c.33T>C (p.Gly11=)
NM_207122.2(EXT2):c.393T>C (p.Asn131=)
NM_207122.2(EXT2):c.404T>C (p.Met135Thr) rs2134967784
NM_207122.2(EXT2):c.417C>T (p.Asp139=)
NM_207122.2(EXT2):c.423C>T (p.Asp141=) rs199916419
NM_207122.2(EXT2):c.443A>G (p.Asn148Ser)
NM_207122.2(EXT2):c.456G>C (p.Leu152=)
NM_207122.2(EXT2):c.495G>A (p.Leu165=)
NM_207122.2(EXT2):c.516A>G (p.Gln172=)
NM_207122.2(EXT2):c.519G>A (p.Ala173=)
NM_207122.2(EXT2):c.519G>C (p.Ala173=) rs148121594
NM_207122.2(EXT2):c.520A>C (p.Met174Leu) rs111589746
NM_207122.2(EXT2):c.520A>T (p.Met174Leu) rs111589746
NM_207122.2(EXT2):c.534T>C (p.Ser178=)
NM_207122.2(EXT2):c.536+10A>T rs748432706
NM_207122.2(EXT2):c.536+14A>G
NM_207122.2(EXT2):c.536+15T>A
NM_207122.2(EXT2):c.536+17C>A
NM_207122.2(EXT2):c.536+19G>C
NM_207122.2(EXT2):c.536+20C>G
NM_207122.2(EXT2):c.536+7C>G rs755324495
NM_207122.2(EXT2):c.545G>T (p.Arg182Leu) rs563383543
NM_207122.2(EXT2):c.558C>T (p.His186=)
NM_207122.2(EXT2):c.561G>C (p.Leu187=)
NM_207122.2(EXT2):c.570C>T (p.Asn190=)
NM_207122.2(EXT2):c.618C>A (p.Pro206=)
NM_207122.2(EXT2):c.626+14T>C
NM_207122.2(EXT2):c.626+19G>A rs370903897
NM_207122.2(EXT2):c.626+262C>G rs76685253
NM_207122.2(EXT2):c.626+6_626+8del
NM_207122.2(EXT2):c.627-18A>G
NM_207122.2(EXT2):c.657G>A (p.Thr219=)
NM_207122.2(EXT2):c.669G>A (p.Arg223=) rs141410374
NM_207122.2(EXT2):c.687C>T (p.Ser229=) rs2134984902
NM_207122.2(EXT2):c.705A>G (p.Pro235=)
NM_207122.2(EXT2):c.717G>A (p.Glu239=)
NM_207122.2(EXT2):c.744-12T>C
NM_207122.2(EXT2):c.744-20C>T rs2135014483
NM_207122.2(EXT2):c.744-8C>T
NM_207122.2(EXT2):c.798A>G (p.Arg266=)
NM_207122.2(EXT2):c.84C>A (p.Thr28=)
NM_207122.2(EXT2):c.84C>T (p.Thr28=) rs1954077511
NM_207122.2(EXT2):c.939+11T>C
NM_207122.2(EXT2):c.939+14A>C
NM_207122.2(EXT2):c.940-13del rs765515424
NM_207122.2(EXT2):c.940-14T>G
NM_207122.2(EXT2):c.940-15T>C
NM_207122.2(EXT2):c.940-79A>C
NM_207122.2(EXT2):c.942G>A (p.Glu314=)
NM_207122.2(EXT2):c.951C>T (p.Phe317=) rs2135020214
NM_207122.2(EXT2):c.969A>G (p.Gly323=)

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. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.