ClinVar Miner

List of variants in gene EXT2 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 112
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_207122.2(EXT2):c.1496-195C>T rs1027377 0.90953
NM_207122.2(EXT2):c.1080-138T>C rs7125352 0.90853
NM_207122.2(EXT2):c.1080-18T>A rs11037882 0.26140
NM_207122.2(EXT2):c.1807-51T>C rs11037909 0.25427
NM_207122.2(EXT2):c.-30-147A>T rs11037864 0.24476
NM_207122.2(EXT2):c.1080-115G>T rs11037881 0.24003
NM_207122.2(EXT2):c.1936-41T>C rs3740878 0.23855
NM_207122.2(EXT2):c.536+132G>C rs4755780 0.18716
NM_207122.2(EXT2):c.1305+126T>C rs72903909 0.06164
NM_207122.2(EXT2):c.537-79A>C rs77233576 0.05805
NM_207122.2(EXT2):c.743+143C>T rs11606743 0.03870
NM_207122.2(EXT2):c.1305+254G>C rs12791572 0.03058
NM_207122.2(EXT2):c.744-83_744-82insG rs200495080 0.02755
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.999T>C (p.Asp333=) rs61733300 0.01271
NM_207122.2(EXT2):c.-31+657G>A rs74980806 0.01266
NM_207122.2(EXT2):c.939+30G>A rs77931461 0.01212
NM_207122.2(EXT2):c.1174-18G>T rs143595300 0.01161
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.1936-66G>C rs112586310 0.00811
NM_207122.2(EXT2):c.1936-179C>T rs117782883 0.00722
NM_207122.2(EXT2):c.1110G>T (p.Met370Ile) rs34084767 0.00538
NM_207122.2(EXT2):c.627-187T>A rs76386814 0.00502
NM_207122.2(EXT2):c.1496-109G>A rs114748639 0.00481
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.1760C>T (p.Thr587Met) rs138495222 0.00063
NM_207122.2(EXT2):c.1534G>T (p.Val512Leu) rs147753803 0.00048
NM_207122.2(EXT2):c.1022C>T (p.Pro341Leu) rs141035971 0.00044
NM_207122.2(EXT2):c.260T>G (p.Met87Arg) rs140075817 0.00031
NM_207122.2(EXT2):c.1645C>T (p.Leu549=) rs142565472 0.00025
NM_207122.2(EXT2):c.605C>T (p.Ala202Val) rs771803942 0.00007
NM_207122.2(EXT2):c.284G>A (p.Arg95His) rs143703574 0.00005
NM_207122.2(EXT2):c.698A>G (p.Tyr233Cys) rs146316660 0.00005
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter) rs765648513 0.00004
NM_207122.2(EXT2):c.1564C>T (p.Arg522Cys) rs145507609 0.00003
NM_207122.2(EXT2):c.626+3A>C rs200934340 0.00003
NM_207122.2(EXT2):c.1123A>G (p.Ser375Gly) rs369029338 0.00001
NM_207122.2(EXT2):c.1305+2T>C rs202153611 0.00001
NM_207122.2(EXT2):c.1921A>C (p.Lys641Gln) rs773705067 0.00001
NM_207122.2(EXT2):c.636G>T (p.Leu212Phe) rs532468542 0.00001
NM_207122.2(EXT2):c.667C>T (p.Arg223Trp) rs201062014 0.00001
NM_207122.2(EXT2):c.67C>T (p.Arg23Ter) rs754533434 0.00001
NM_207122.2(EXT2):c.-31+496T>G rs11037860
NM_207122.2(EXT2):c.1021C>A (p.Pro341Thr) rs1131691261
NM_207122.2(EXT2):c.1102G>A (p.Glu368Lys) rs1590575116
NM_207122.2(EXT2):c.1174-270C>A rs4755788
NM_207122.2(EXT2):c.1179dup (p.Trp394fs) rs1955074882
NM_207122.2(EXT2):c.1181G>A (p.Trp394Ter) rs1191238988
NM_207122.2(EXT2):c.1182G>A (p.Trp394Ter) rs1555012835
NM_207122.2(EXT2):c.1234C>T (p.Gln412Ter) rs1448103584
NM_207122.2(EXT2):c.1262_1263dup (p.Ala422fs) rs1590618958
NM_207122.2(EXT2):c.1301C>T (p.Ala434Val)
NM_207122.2(EXT2):c.1496-204_1496-195del
NM_207122.2(EXT2):c.1496-209del
NM_207122.2(EXT2):c.1684C>T (p.Arg562Trp)
NM_207122.2(EXT2):c.1706G>A (p.Arg569His)
NM_207122.2(EXT2):c.1744T>C (p.Tyr582His)
NM_207122.2(EXT2):c.1929del (p.Ile644fs) rs1064796192
NM_207122.2(EXT2):c.1936-134GT[10] rs3832748
NM_207122.2(EXT2):c.1996G>T (p.Asp666Tyr) rs1441921649
NM_207122.2(EXT2):c.2084G>A (p.Arg695Gln) rs1956071680
NM_207122.2(EXT2):c.2155T>G (p.Ter719Gly) rs1057520184
NM_207122.2(EXT2):c.245A>C (p.Asp82Ala) rs534539796
NM_207122.2(EXT2):c.245dup (p.Asp82fs) rs1555002460
NM_207122.2(EXT2):c.28C>A (p.Arg10=) rs4755228
NM_207122.2(EXT2):c.307A>G (p.Lys103Glu) rs907886635
NM_207122.2(EXT2):c.394G>C (p.Glu132Gln) rs1954086080
NM_207122.2(EXT2):c.398_401dup (p.Met135fs) rs886041272
NM_207122.2(EXT2):c.404T>C (p.Met135Thr) rs2134967784
NM_207122.2(EXT2):c.422A>T (p.Asp141Val)
NM_207122.2(EXT2):c.442_455del (p.Asn148fs) rs1590548183
NM_207122.2(EXT2):c.481_482dup (p.Asn161fs) rs1590548336
NM_207122.2(EXT2):c.484C>T (p.Gln162Ter) rs2134968489
NM_207122.2(EXT2):c.514C>T (p.Gln172Ter) rs121918279
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.536+1G>A rs1954091762
NM_207122.2(EXT2):c.539G>A (p.Trp180Ter) rs886039565
NM_207122.2(EXT2):c.540G>A (p.Trp180Ter) rs2134971524
NM_207122.2(EXT2):c.544C>T (p.Arg182Ter) rs886039358
NM_207122.2(EXT2):c.553_558del (p.Asn185_His186del) rs761364688
NM_207122.2(EXT2):c.56del (p.Lys19fs) rs1085307877
NM_207122.2(EXT2):c.580G>T (p.Gly194Ter) rs886039566
NM_207122.2(EXT2):c.626+1G>A rs1057521132
NM_207122.2(EXT2):c.626+1G>T rs1057521132
NM_207122.2(EXT2):c.626+262C>G rs76685253
NM_207122.2(EXT2):c.627-2A>G rs1064793854
NM_207122.2(EXT2):c.670C>T (p.Gln224Ter) rs1565199251
NM_207122.2(EXT2):c.678C>G (p.Tyr226Ter)
NM_207122.2(EXT2):c.679G>A (p.Asp227Asn) rs121918280
NM_207122.2(EXT2):c.740C>A (p.Pro247Gln) rs372237191
NM_207122.2(EXT2):c.743+1G>A rs886039567
NM_207122.2(EXT2):c.743+1_743+2dup rs1590555709
NM_207122.2(EXT2):c.744-82A>G rs10769018
NM_207122.2(EXT2):c.744-82A>T rs10769018
NM_207122.2(EXT2):c.785dup (p.His262fs) rs1555005328
NM_207122.2(EXT2):c.795C>G (p.Tyr265Ter)
NM_207122.2(EXT2):c.817C>T (p.Gln273Ter) rs1954375189
NM_207122.2(EXT2):c.829G>T (p.Gly277Ter)
NM_207122.2(EXT2):c.871G>T (p.Glu291Ter)
NM_207122.2(EXT2):c.87_88del (p.Phe30fs) rs886039744
NM_207122.2(EXT2):c.906_907dup (p.His303fs) rs886041199
NM_207122.2(EXT2):c.937C>T (p.Gln313Ter) rs763718818
NM_207122.2(EXT2):c.93del (p.Ile32fs)
NM_207122.2(EXT2):c.940-79A>C
NM_207122.2(EXT2):c.979G>C (p.Gly327Arg) rs200427972

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.