ClinVar Miner

List of variants in gene EXT2 reported as benign for connective tissue neoplasm

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 47
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HGVS dbSNP
NM_000401.3(EXT2):c.*3C>T rs542907948
NM_000401.3(EXT2):c.*472C>T rs74424177
NM_000401.3(EXT2):c.*56G>A rs77554103
NM_000401.3(EXT2):c.*646C>T rs189528648
NM_000401.3(EXT2):c.*795C>A rs76505631
NM_000401.3(EXT2):c.*802A>G rs531942530
NM_000401.3(EXT2):c.1017C>T (p.Phe339=) rs35436405
NM_000401.3(EXT2):c.1064G>A (p.Arg355His) rs149727518
NM_000401.3(EXT2):c.1098T>C (p.Asp366=) rs61733300
NM_000401.3(EXT2):c.1116T>C (p.Cys372=) rs11828047
NM_000401.3(EXT2):c.1122G>A (p.Pro374=) rs757323768
NM_000401.3(EXT2):c.1179-18T>A rs11037882
NM_000401.3(EXT2):c.1209G>T (p.Met403Ile) rs34084767
NM_000401.3(EXT2):c.1222A>G (p.Ser408Gly) rs369029338
NM_000401.3(EXT2):c.1277G>A (p.Arg426Gln) rs138187791
NM_000401.3(EXT2):c.127C>A (p.Arg43=) rs4755228
NM_000401.3(EXT2):c.1633G>T (p.Val545Leu) rs147753803
NM_000401.3(EXT2):c.1740C>T (p.Asp580=) rs75987184
NM_000401.3(EXT2):c.1744C>T (p.Leu582=) rs142565472
NM_000401.3(EXT2):c.1860G>A (p.Thr620=) rs16937864
NM_000401.3(EXT2):c.1905+9del rs372901342
NM_000401.3(EXT2):c.2035-41T>C rs3740878
NM_000401.3(EXT2):c.223A>G (p.Met75Val) rs4755779
NM_000401.3(EXT2):c.359T>G (p.Met120Arg) rs140075817
NM_000401.3(EXT2):c.363C>T (p.His121=) rs35455466
NM_000401.3(EXT2):c.618G>C (p.Ala206=) rs148121594
NM_000401.3(EXT2):c.619A>C (p.Met207Leu) rs111589746
NM_000401.3(EXT2):c.809C>T (p.Ser270Leu) rs139525250
NM_000401.3(EXT2):c.843-10T>G rs200943294
NM_000401.3(EXT2):c.995G>A (p.Arg332His) rs76901081
NM_207122.1(EXT2):c.-148G>A rs115238130
NM_207122.1(EXT2):c.-197C>G rs78395259
NM_207122.1(EXT2):c.-31+7G>T rs58861092
NM_207122.1(EXT2):c.-311G>A rs3923808
NM_207122.1(EXT2):c.-331T>C rs10458911
NM_207122.1(EXT2):c.-61C>G rs12800404
NM_207122.2(EXT2):c.1005A>G (p.Leu335=) rs141977888
NM_207122.2(EXT2):c.1126A>G (p.Ile376Val) rs1465688101
NM_207122.2(EXT2):c.1249C>T (p.Arg417Trp)
NM_207122.2(EXT2):c.1250G>A (p.Arg417Gln)
NM_207122.2(EXT2):c.1681G>C (p.Asp561His)
NM_207122.2(EXT2):c.1806+10C>T
NM_207122.2(EXT2):c.1807-51T>C
NM_207122.2(EXT2):c.2019-14T>C
NM_207122.2(EXT2):c.201G>A (p.Pro67=)
NM_207122.2(EXT2):c.605C>T (p.Ala202Val)
NM_207122.2(EXT2):c.889C>T (p.Arg297Cys)

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