ClinVar Miner

List of variants in gene EXT2 reported as uncertain significance for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_207122.2(EXT2):c.1588G>A (p.Glu530Lys) rs148711133 0.00063
NM_207122.2(EXT2):c.1534G>T (p.Val512Leu) rs147753803 0.00048
NM_207122.2(EXT2):c.1912G>A (p.Val638Ile) rs145024832 0.00030
NM_207122.2(EXT2):c.1177C>T (p.Arg393Trp) rs145903120 0.00006
NM_207122.2(EXT2):c.1249C>T (p.Arg417Trp) rs540229057 0.00006
NM_207122.2(EXT2):c.512C>A (p.Ala171Glu) rs149621055 0.00005
NM_207122.2(EXT2):c.698A>G (p.Tyr233Cys) rs146316660 0.00005
NM_207122.2(EXT2):c.1582G>A (p.Glu528Lys) rs761890554 0.00004
NM_207122.2(EXT2):c.1681G>C (p.Asp561His) rs151291188 0.00003
NM_207122.2(EXT2):c.200C>T (p.Pro67Leu) rs748292026 0.00003
NM_207122.2(EXT2):c.1043A>G (p.Tyr348Cys) rs758785296 0.00002
NM_207122.2(EXT2):c.265A>G (p.Thr89Ala) rs746889702 0.00002
NM_207122.2(EXT2):c.68G>A (p.Arg23Gln) rs369368661 0.00002
NM_207122.2(EXT2):c.832G>A (p.Glu278Lys) rs117329700 0.00002
NM_207122.2(EXT2):c.1259C>T (p.Pro420Leu) rs747153343 0.00001
NM_207122.2(EXT2):c.640G>A (p.Gly214Ser) rs550761834 0.00001
NM_207122.2(EXT2):c.646G>A (p.Gly216Ser) rs1208541215 0.00001
NM_207122.2(EXT2):c.656C>T (p.Thr219Met) rs202208526 0.00001
NM_207122.2(EXT2):c.757T>C (p.Phe253Leu) rs774329716 0.00001
NM_207122.2(EXT2):c.760C>T (p.Leu254Phe) rs768788739 0.00001
NM_207122.2(EXT2):c.988G>A (p.Val330Ile) rs1317963489 0.00001
NM_207122.2(EXT2):c.1062A>C (p.Glu354Asp) rs2539568993
NM_207122.2(EXT2):c.1093G>A (p.Val365Ile) rs2135029065
NM_207122.2(EXT2):c.1124G>A (p.Ser375Asn) rs1270509963
NM_207122.2(EXT2):c.1295C>G (p.Pro432Arg)
NM_207122.2(EXT2):c.155C>A (p.Ser52Tyr)
NM_207122.2(EXT2):c.1684C>G (p.Arg562Gly) rs749343014
NM_207122.2(EXT2):c.176A>G (p.Glu59Gly)
NM_207122.2(EXT2):c.1838C>T (p.Pro613Leu) rs1564987350
NM_207122.2(EXT2):c.1868A>G (p.His623Arg) rs2539783603
NM_207122.2(EXT2):c.1889C>T (p.Ala630Val)
NM_207122.2(EXT2):c.1898T>C (p.Phe633Ser)
NM_207122.2(EXT2):c.452G>C (p.Cys151Ser) rs891474861
NM_207122.2(EXT2):c.469A>C (p.Ile157Leu) rs2539517587
NM_207122.2(EXT2):c.472G>A (p.Asp158Asn) rs768999889
NM_207122.2(EXT2):c.56A>G (p.Lys19Arg) rs2539514357
NM_207122.2(EXT2):c.635T>C (p.Leu212Ser)
NM_207122.2(EXT2):c.745C>T (p.Pro249Ser)
NM_207122.2(EXT2):c.755A>G (p.Tyr252Cys) rs2539562587
NM_207122.2(EXT2):c.857G>A (p.Cys286Tyr) rs778720458
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.