ClinVar Miner

List of variants studied for connective tissue neoplasm by Mendelics

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP
NM_000127.2(EXT1):c.1065C>T (p.Cys355=) rs11546829
NM_000127.3(EXT1):c.2072G>A (p.Arg691His) rs746678682
NM_000127.3(EXT1):c.2143A>G (p.Met715Val) rs1225915837
NM_000401.3(EXT2):c.1859C>T (p.Thr620Met) rs138495222
NM_000401.3(EXT2):c.359T>G (p.Met120Arg) rs140075817
NM_000401.3(EXT2):c.809C>T (p.Ser270Leu) rs139525250
NM_002451.4(MTAP):c.166G>A (p.Val56Ile) rs7023954
NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val) rs114435947
NM_003977.4(AIP):c.145G>A (p.Val49Met) rs1063385
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190
NM_015922.3(NSDHL):c.*129C>T rs145978994
NM_054021.1(GPR101):c.924G>C (p.Glu308Asp) rs73637412
NM_058172.6(ANTXR2):c.1069G>C (p.Ala357Pro) rs12647691

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.