ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 56
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_207122.2(EXT2):c.1425A>G (p.Glu475=) rs533065326 0.00027
NM_207122.2(EXT2):c.1407C>T (p.Leu469=) rs148753786 0.00011
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.1461C>T (p.Val487=) rs150758739 0.00003
NM_207122.2(EXT2):c.1306-7C>G rs771232346 0.00002
NM_207122.2(EXT2):c.1315A>G (p.Ser439Gly) rs760086935 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.1319T>A (p.Val440Glu) rs1053473840 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.1409T>C (p.Phe470Ser) rs1360036719 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
NM_207122.2(EXT2):c.1306-14C>T
NM_207122.2(EXT2):c.1306-8T>C
NM_207122.2(EXT2):c.1308G>A (p.Lys436=)
NM_207122.2(EXT2):c.1308G>T (p.Lys436Asn)
NM_207122.2(EXT2):c.1312G>T (p.Gly438Cys) rs775111831
NM_207122.2(EXT2):c.1328C>T (p.Pro443Leu)
NM_207122.2(EXT2):c.1330C>T (p.Leu444Phe)
NM_207122.2(EXT2):c.1338C>T (p.Leu446=) rs1955474586
NM_207122.2(EXT2):c.1340C>T (p.Pro447Leu)
NM_207122.2(EXT2):c.1342C>T (p.Leu448=)
NM_207122.2(EXT2):c.1344G>A (p.Leu448=)
NM_207122.2(EXT2):c.1350A>G (p.Pro450=)
NM_207122.2(EXT2):c.1353A>G (p.Pro451=)
NM_207122.2(EXT2):c.1363G>A (p.Gly455Arg)
NM_207122.2(EXT2):c.1370C>A (p.Thr457Asn)
NM_207122.2(EXT2):c.1371C>T (p.Thr457=)
NM_207122.2(EXT2):c.1376T>C (p.Ile459Thr)
NM_207122.2(EXT2):c.1392C>T (p.Asp464=)
NM_207122.2(EXT2):c.1394G>A (p.Arg465Gln)
NM_207122.2(EXT2):c.1411C>T (p.Arg471Trp)
NM_207122.2(EXT2):c.1436T>A (p.Val479Glu)
NM_207122.2(EXT2):c.1438C>T (p.Pro480Ser)
NM_207122.2(EXT2):c.1440C>T (p.Pro480=) rs2135185399
NM_207122.2(EXT2):c.1448C>T (p.Ser483Phe)
NM_207122.2(EXT2):c.1449C>T (p.Ser483=)
NM_207122.2(EXT2):c.1454T>C (p.Leu485Pro)
NM_207122.2(EXT2):c.1458T>A (p.Leu486=) rs1343630556
NM_207122.2(EXT2):c.1462G>A (p.Val488Ile)
NM_207122.2(EXT2):c.1462G>T (p.Val488Phe)
NM_207122.2(EXT2):c.1465T>C (p.Trp489Arg) rs2135185580
NM_207122.2(EXT2):c.1466G>C (p.Trp489Ser)
NM_207122.2(EXT2):c.1484del (p.Asn495fs)
NM_207122.2(EXT2):c.1489_1495+12del
NM_207122.2(EXT2):c.1495+12T>C
NM_207122.2(EXT2):c.1495+7dup rs1376958816
NM_207122.2(EXT2):c.1495G>A (p.Asp499Asn) rs1314735230

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.