ClinVar Miner

List of variants in gene EXT2, LOC126861201 studied for Exostoses, multiple, type 2

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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_207122.2(EXT2):c.1407C>T (p.Leu469=) rs148753786 0.00011
NM_207122.2(EXT2):c.1425A>G (p.Glu475=) rs533065326 0.00011
NM_207122.2(EXT2):c.1344G>A (p.Leu448=) rs752888790 0.00008
NM_207122.2(EXT2):c.1372G>A (p.Ala458Thr) rs146086025 0.00008
NM_207122.2(EXT2):c.1412G>A (p.Arg471Gln) rs141256266 0.00006
NM_207122.2(EXT2):c.1341G>A (p.Pro447=) rs774039598 0.00005
NM_207122.2(EXT2):c.1487C>T (p.Pro496Leu) rs772530256 0.00005
NM_207122.2(EXT2):c.1495+9C>G rs768311130 0.00004
NM_207122.2(EXT2):c.1371C>T (p.Thr457=) rs749466870 0.00003
NM_207122.2(EXT2):c.1449C>T (p.Ser483=) rs551375998 0.00003
NM_207122.2(EXT2):c.1454T>C (p.Leu485Pro) rs367946456 0.00003
NM_207122.2(EXT2):c.1461C>T (p.Val487=) rs150758739 0.00003
NM_207122.2(EXT2):c.1306-7C>G rs771232346 0.00002
NM_207122.2(EXT2):c.1389C>T (p.Tyr463=) rs1166915261 0.00002
NM_207122.2(EXT2):c.1393C>T (p.Arg465Ter) rs772690312 0.00002
NM_207122.2(EXT2):c.1308G>A (p.Lys436=) rs142792087 0.00001
NM_207122.2(EXT2):c.1315A>G (p.Ser439Gly) rs760086935 0.00001
NM_207122.2(EXT2):c.1319T>A (p.Val440Glu) rs1053473840 0.00001
NM_207122.2(EXT2):c.1328C>T (p.Pro443Leu) rs765073924 0.00001
NM_207122.2(EXT2):c.1340C>T (p.Pro447Leu) rs758411926 0.00001
NM_207122.2(EXT2):c.1342C>T (p.Leu448=) rs1294967203 0.00001
NM_207122.2(EXT2):c.1350A>G (p.Pro450=) rs756080500 0.00001
NM_207122.2(EXT2):c.1353A>G (p.Pro451=) rs777988008 0.00001
NM_207122.2(EXT2):c.1354C>G (p.Gln452Glu) rs1955475218 0.00001
NM_207122.2(EXT2):c.1375A>G (p.Ile459Val) rs779292816 0.00001
NM_207122.2(EXT2):c.1376T>C (p.Ile459Thr) rs1955475862 0.00001
NM_207122.2(EXT2):c.1409T>C (p.Phe470Ser) rs1360036719 0.00001
NM_207122.2(EXT2):c.1436T>A (p.Val479Glu) rs1477010752 0.00001
NM_207122.2(EXT2):c.1438C>T (p.Pro480Ser) rs1183076518 0.00001
NM_207122.2(EXT2):c.1462G>A (p.Val488Ile) rs139153420 0.00001
NM_207122.2(EXT2):c.1484A>G (p.Asn495Ser) rs1590640131 0.00001
NC_000011.10:g.(?_44144227)_(44198038_?)del
NM_207122.2(EXT2):c.1306-13T>C rs749657208
NM_207122.2(EXT2):c.1306-14C>A rs1051825327
NM_207122.2(EXT2):c.1306-14C>T rs1051825327
NM_207122.2(EXT2):c.1306-8T>C rs2539716282
NM_207122.2(EXT2):c.1308G>T (p.Lys436Asn) rs142792087
NM_207122.2(EXT2):c.1312G>T (p.Gly438Cys) rs775111831
NM_207122.2(EXT2):c.1330C>T (p.Leu444Phe) rs2539716483
NM_207122.2(EXT2):c.1335C>T (p.Phe445=)
NM_207122.2(EXT2):c.1338C>T (p.Leu446=) rs1955474586
NM_207122.2(EXT2):c.1363G>A (p.Gly455Arg) rs2135184956
NM_207122.2(EXT2):c.1370C>A (p.Thr457Asn) rs1218000813
NM_207122.2(EXT2):c.1390G>A (p.Asp464Asn)
NM_207122.2(EXT2):c.1392C>T (p.Asp464=) rs746206387
NM_207122.2(EXT2):c.1394G>A (p.Arg465Gln) rs1162561512
NM_207122.2(EXT2):c.1397_1401del (p.Val466fs) rs960497646
NM_207122.2(EXT2):c.1411C>T (p.Arg471Trp) rs370844900
NM_207122.2(EXT2):c.1440C>T (p.Pro480=) rs2135185399
NM_207122.2(EXT2):c.1448C>T (p.Ser483Phe) rs2539717117
NM_207122.2(EXT2):c.1458T>A (p.Leu486=) rs1343630556
NM_207122.2(EXT2):c.1459GTC[1] (p.Val488del) rs1955478108
NM_207122.2(EXT2):c.1462G>T (p.Val488Phe) rs139153420
NM_207122.2(EXT2):c.1465T>C (p.Trp489Arg) rs2135185580
NM_207122.2(EXT2):c.1466G>C (p.Trp489Ser) rs1374879447
NM_207122.2(EXT2):c.1484del (p.Asn495fs) rs2539717285
NM_207122.2(EXT2):c.1486C>G (p.Pro496Ala) rs1317020965
NM_207122.2(EXT2):c.1489_1495+12del rs1565231185
NM_207122.2(EXT2):c.1495+12T>C rs1955479323
NM_207122.2(EXT2):c.1495+7dup rs1376958816
NM_207122.2(EXT2):c.1495G>A (p.Asp499Asn) rs1314735230

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