ClinVar Miner

List of variants in gene TGFBR2 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 66
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003242.6(TGFBR2):c.*330C>A rs304840 0.01221
NM_003242.6(TGFBR2):c.*1880G>A rs11466534 0.01174
NM_003242.6(TGFBR2):c.*835C>A rs17026332 0.00994
NM_003242.6(TGFBR2):c.264-35T>G rs11466495 0.00944
NM_003242.5(TGFBR2):c.-302A>G rs138010137 0.00832
NM_003242.6(TGFBR2):c.454+74A>G rs11466496 0.00724
NC_000003.12:g.30606225T>G rs6808594 0.00693
NM_003242.6(TGFBR2):c.1397-116G>A rs11466526 0.00656
NM_003242.6(TGFBR2):c.1254+98A>G rs11466513 0.00634
NM_003242.6(TGFBR2):c.454+278C>T rs11466498 0.00471
NM_003242.6(TGFBR2):c.*599C>A rs79755385 0.00431
NM_003242.6(TGFBR2):c.*149A>T rs143024112 0.00415
NM_003242.6(TGFBR2):c.1396+116C>A rs72850837 0.00409
NM_003242.6(TGFBR2):c.94+40G>T rs561070366 0.00151
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00130
NM_003242.6(TGFBR2):c.94+16245G>A rs61732532 0.00111
NM_003242.6(TGFBR2):c.106A>G (p.Met36Val) rs17025864 0.00092
NM_003242.6(TGFBR2):c.649G>C (p.Ala217Pro) rs149141477 0.00046
NM_003242.6(TGFBR2):c.94+16202A>G rs375610471 0.00039
NM_003242.6(TGFBR2):c.263+17A>C rs34771516 0.00029
NM_003242.6(TGFBR2):c.1548G>A (p.Thr516=) rs140662877 0.00021
NM_003242.6(TGFBR2):c.1092T>C (p.Asp364=) rs149195553 0.00010
NM_003242.6(TGFBR2):c.95-20A>G rs371326218 0.00010
NM_003242.6(TGFBR2):c.1464G>A (p.Lys488=) rs753282415 0.00007
NM_003242.6(TGFBR2):c.94+16263A>C rs200111443 0.00006
NM_003242.6(TGFBR2):c.985G>A (p.Ala329Thr) rs148665451 0.00006
NM_003242.6(TGFBR2):c.567C>T (p.Tyr189=) rs371221124 0.00005
NM_003242.6(TGFBR2):c.1524+10G>C rs377397188 0.00004
NM_003242.6(TGFBR2):c.1569C>T (p.His523=) rs760107571 0.00004
NM_003242.6(TGFBR2):c.69G>T (p.Thr23=) rs878854612 0.00004
NM_003242.6(TGFBR2):c.975C>T (p.Thr325=) rs532098604 0.00004
NM_003242.6(TGFBR2):c.639C>T (p.Ser213=) rs200332401 0.00003
NM_003242.6(TGFBR2):c.690G>A (p.Thr230=) rs201560560 0.00003
NM_003242.6(TGFBR2):c.81C>T (p.His27=) rs1057520957 0.00003
NM_003242.6(TGFBR2):c.1158C>T (p.Leu386=) rs757158964 0.00002
NM_003242.6(TGFBR2):c.94+16308T>C rs770994456 0.00002
NM_003242.6(TGFBR2):c.-31G>A rs767154664 0.00001
NM_003242.6(TGFBR2):c.1014G>A (p.Thr338=) rs764720370 0.00001
NM_003242.6(TGFBR2):c.1185G>C (p.Leu395=) rs193922663 0.00001
NM_003242.6(TGFBR2):c.1208G>A (p.Arg403His) rs143095746 0.00001
NM_003242.6(TGFBR2):c.1254+12C>T rs763098114 0.00001
NM_003242.6(TGFBR2):c.1452C>T (p.Val484=) rs185502982 0.00001
NM_003242.6(TGFBR2):c.1525-5T>C rs770896804 0.00001
NM_003242.6(TGFBR2):c.1525-6C>G rs748388518 0.00001
NM_003242.6(TGFBR2):c.1659G>A (p.Ser553=) rs771926828 0.00001
NM_003242.6(TGFBR2):c.263+22T>C rs566716859 0.00001
NM_003242.6(TGFBR2):c.263+6C>T rs758501054 0.00001
NM_003242.6(TGFBR2):c.437A>G (p.Asn146Ser) rs863223836 0.00001
NM_003242.6(TGFBR2):c.6T>C (p.Gly2=) rs758864131 0.00001
NM_003242.6(TGFBR2):c.933G>A (p.Glu311=) rs754003334 0.00001
NM_003242.5(TGFBR2):c.454+17_454+47del31ins22
NM_003242.6(TGFBR2):c.*2248del rs34914516
NM_003242.6(TGFBR2):c.*310_*311del rs199931498
NM_003242.6(TGFBR2):c.*312AT[11] rs4016180
NM_003242.6(TGFBR2):c.*330_*331del rs561991238
NM_003242.6(TGFBR2):c.1128G>A (p.Val376=) rs1057523953
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu) rs35766612
NM_003242.6(TGFBR2):c.1254+8A>G rs200630803
NM_003242.6(TGFBR2):c.1525-11del rs1064795299
NM_003242.6(TGFBR2):c.263+7_263+9delinsGAC rs1064794518
NM_003242.6(TGFBR2):c.264-7A>G rs1001983657
NM_003242.6(TGFBR2):c.455-4T>C rs11466512
NM_003242.6(TGFBR2):c.464C>T (p.Thr155Ile) rs727504406
NM_003242.6(TGFBR2):c.903T>C (p.His301=) rs1369484772
NM_003242.6(TGFBR2):c.978C>T (p.Ala326=) rs1575157891

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.