ClinVar Miner

List of variants in gene TGFB3 reported as pathogenic for Loeys-Dietz syndrome

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NC_000014.9:g.(?_75958692)_(75980923_?)del
NM_003239.5(TGFB3):c.1034C>G (p.Ser345Ter) rs1060502827
NM_003239.5(TGFB3):c.109A>T (p.Lys37Ter) rs2035418540
NM_003239.5(TGFB3):c.1102_1105del (p.Leu368fs) rs1555360047
NM_003239.5(TGFB3):c.1219A>T (p.Lys407Ter) rs1248127840
NM_003239.5(TGFB3):c.1226G>A (p.Cys409Tyr) rs398122984
NM_003239.5(TGFB3):c.170_171del (p.Pro57fs)
NM_003239.5(TGFB3):c.170del (p.Pro57fs)
NM_003239.5(TGFB3):c.170dup (p.Pro57_Glu58insTer) rs2140254449
NM_003239.5(TGFB3):c.321dup (p.Phe108fs) rs1555361385
NM_003239.5(TGFB3):c.355del (p.Glu119fs) rs2140246004
NM_003239.5(TGFB3):c.427A>T (p.Arg143Ter)
NM_003239.5(TGFB3):c.436del (p.Leu146fs) rs2140245836
NM_003239.5(TGFB3):c.442C>T (p.Arg148Ter) rs1057523647
NM_003239.5(TGFB3):c.496C>T (p.Gln166Ter)
NM_003239.5(TGFB3):c.496_497del (p.Gln166fs)
NM_003239.5(TGFB3):c.516+1G>T
NM_003239.5(TGFB3):c.547C>T (p.Gln183Ter)
NM_003239.5(TGFB3):c.621del (p.Val208fs) rs2140245186
NM_003239.5(TGFB3):c.638del (p.Leu212_Leu213insTer)
NM_003239.5(TGFB3):c.704del (p.Asn235fs) rs875989817
NM_003239.5(TGFB3):c.722del (p.Asn241fs)
NM_003239.5(TGFB3):c.723del (p.Asn241fs) rs2140240223
NM_003239.5(TGFB3):c.754+2T>C rs875989816
NM_003239.5(TGFB3):c.787G>C (p.Asp263His) rs796051886
NM_003239.5(TGFB3):c.878del (p.Gln293fs)
NM_003239.5(TGFB3):c.883_884del (p.Gly295fs) rs1060502826
NM_003239.5(TGFB3):c.886_893dup (p.Lys298fs) rs1555360368
NM_003239.5(TGFB3):c.898C>T (p.Arg300Trp) rs796051885
NM_003239.5(TGFB3):c.899G>A (p.Arg300Gln) rs587777617
NM_003239.5(TGFB3):c.912dup (p.Asn305fs)
NM_003239.5(TGFB3):c.95_96insA (p.Phe32fs)
NM_003239.5(TGFB3):c.973C>T (p.Arg325Ter) rs1555360229
NM_003239.5(TGFB3):c.989G>A (p.Trp330Ter) rs1555360222
NM_003239.5(TGFB3):c.990G>A (p.Trp330Ter) rs2140236217
NM_003239.5(TGFB3):c.996G>A (p.Trp332Ter) rs2140236210

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.