ClinVar Miner

List of variants in gene TRAPPC9 reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001160372.4(TRAPPC9):c.3163G>A (p.Val1055Ile) rs35578974 0.00512
NM_001160372.4(TRAPPC9):c.3056A>C (p.Asp1019Ala) rs755371528 0.00004
NM_001160372.4(TRAPPC9):c.1414C>T (p.Arg472Ter) rs267607137 0.00003
NM_001160372.4(TRAPPC9):c.1982-1G>A rs1465738840 0.00002
NM_001160372.4(TRAPPC9):c.2811-1G>A rs1064795801 0.00001
NM_001160372.4(TRAPPC9):c.2854G>T (p.Glu952Ter) rs766614772 0.00001
NM_001160372.4(TRAPPC9):c.367G>T (p.Glu123Ter) rs587780486 0.00001
NC_000008.11:g.(?_140417391)_(140444832_?)del
NM_001160372.4(TRAPPC9):c.-10-2A>G
NM_001160372.4(TRAPPC9):c.1045del (p.Ile349fs)
NM_001160372.4(TRAPPC9):c.1234G>A (p.Ala412Thr) rs201836353
NM_001160372.4(TRAPPC9):c.151C>T (p.Arg51Ter) rs2071449158
NM_001160372.4(TRAPPC9):c.1623-1G>A
NM_001160372.4(TRAPPC9):c.1675dup (p.Ser559fs)
NM_001160372.4(TRAPPC9):c.1768+1G>A
NM_001160372.4(TRAPPC9):c.1928del (p.Tyr643fs)
NM_001160372.4(TRAPPC9):c.2173C>T (p.Gln725Ter)
NM_001160372.4(TRAPPC9):c.2278+1G>T
NM_001160372.4(TRAPPC9):c.239T>C (p.Leu80Pro) rs2132705299
NM_001160372.4(TRAPPC9):c.2432-1G>A rs2131321747
NM_001160372.4(TRAPPC9):c.2700-2A>T rs1042063281
NM_001160372.4(TRAPPC9):c.274_280del (p.Trp92fs) rs1554689964
NM_001160372.4(TRAPPC9):c.2810+1G>A
NM_001160372.4(TRAPPC9):c.2815dup (p.Ala939fs)
NM_001160372.4(TRAPPC9):c.2890A>G (p.Lys964Glu) rs1357591960
NM_001160372.4(TRAPPC9):c.2920C>T (p.Arg974Ter)
NM_001160372.4(TRAPPC9):c.2982_2986dup (p.Glu996fs) rs2131117340
NM_001160372.4(TRAPPC9):c.3034C>T (p.Gln1012Ter) rs786205595
NM_001160372.4(TRAPPC9):c.731-2A>C
NM_001160372.4(TRAPPC9):c.943_944del (p.Lys315fs) rs1588295226
NM_031466.7(TRAPPC9):c.[2415_2416insC];[3349+1G>A]
NM_031466.8(TRAPPC9):c.-243C>T
NM_031466.8(TRAPPC9):c.-68C>T

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.