ClinVar Miner

List of variants in gene TGFB2 reported as uncertain significance for Loeys-Dietz syndrome 4

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 57
Download table as spreadsheet
HGVS dbSNP
NM_001135599.3(TGFB2):c.*1229T>C rs781757001
NM_001135599.3(TGFB2):c.*2980G>C rs886045993
NM_001135599.3(TGFB2):c.*3141A>G rs886045994
NM_001135599.3(TGFB2):c.*45A>G rs769232186
NM_001135599.3(TGFB2):c.*589C>A rs886045981
NM_001135599.3(TGFB2):c.*772C>T rs886045982
NM_001135599.3(TGFB2):c.*962A>G rs886045984
NM_001135599.3(TGFB2):c.-1153G>T rs886045959
NM_001135599.3(TGFB2):c.-1271A>G rs886045958
NM_001135599.3(TGFB2):c.-338T>A rs148765724
NM_001135599.3(TGFB2):c.-542C>T rs886045973
NM_001135599.3(TGFB2):c.-569T>C rs886045972
NM_001135599.3(TGFB2):c.-620G>A rs886045971
NM_001135599.3(TGFB2):c.-644A>G rs747761067
NM_001135599.3(TGFB2):c.-646G>A rs886045968
NM_001135599.3(TGFB2):c.-663C>T rs886045965
NM_001135599.3(TGFB2):c.-679G>A rs886045964
NM_001135599.3(TGFB2):c.-682C>G rs886045963
NM_001135599.3(TGFB2):c.-683C>A rs886045962
NM_001135599.3(TGFB2):c.-699A>C rs886045961
NM_001135599.3(TGFB2):c.-794T>C rs886045960
NM_001135599.3(TGFB2):c.1002G>A (p.Ala334=) rs767936611
NM_001135599.3(TGFB2):c.1113C>T (p.Ala371=) rs886045979
NM_001135599.3(TGFB2):c.1137G>A (p.Pro379=) rs142741166
NM_001135599.3(TGFB2):c.1265T>C (p.Ile422Thr) rs886045980
NM_001135599.3(TGFB2):c.1316G>C (p.Cys439Ser) rs1553303761
NM_001135599.3(TGFB2):c.194C>T (p.Pro65Leu) rs750324465
NM_001135599.3(TGFB2):c.199G>A (p.Val67Met) rs201761868
NM_001135599.3(TGFB2):c.303G>A (p.Lys101=) rs147052890
NM_001135599.3(TGFB2):c.440C>T (p.Pro147Leu) rs149533093
NM_001135599.3(TGFB2):c.470T>C (p.Ile157Thr) rs752823052
NM_001135599.3(TGFB2):c.52G>A (p.Ala18Thr) rs886045975
NM_001135599.3(TGFB2):c.54G>T (p.Ala18=) rs781126315
NM_001135599.3(TGFB2):c.673G>A (p.Glu225Lys) rs764028978
NM_001135599.3(TGFB2):c.703G>C (p.Val235Leu) rs10482810
NM_001135599.3(TGFB2):c.754T>G (p.Leu252Val) rs886045978
NM_001135599.3(TGFB2):c.857C>T (p.Thr286Ile) rs373352179
NM_003238.6(TGFB2):c.*1034A>C
NM_003238.6(TGFB2):c.*193A>C
NM_003238.6(TGFB2):c.*3076G>A
NM_003238.6(TGFB2):c.*3193A>G
NM_003238.6(TGFB2):c.*3210C>T
NM_003238.6(TGFB2):c.*338C>T
NM_003238.6(TGFB2):c.*489A>G
NM_003238.6(TGFB2):c.*972A>C
NM_003238.6(TGFB2):c.-101A>G
NM_003238.6(TGFB2):c.-1237G>C
NM_003238.6(TGFB2):c.-1249G>A
NM_003238.6(TGFB2):c.-514T>C
NM_003238.6(TGFB2):c.-540A>T
NM_003238.6(TGFB2):c.-616G>A
NM_003238.6(TGFB2):c.-758G>C
NM_003238.6(TGFB2):c.-96C>A
NM_003238.6(TGFB2):c.1087-13T>G
NM_003238.6(TGFB2):c.347-10T>A
NM_003238.6(TGFB2):c.510+9C>T
NM_003238.6(TGFB2):c.734A>T (p.Glu245Val)

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.