ClinVar Miner

List of variants in gene TRIOBP reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 43
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter) rs200045032 0.00054
NM_001039141.3(TRIOBP):c.1933C>T (p.Gln645Ter) rs377748152 0.00016
NM_001039141.3(TRIOBP):c.1039C>T (p.Arg347Ter) rs118204026 0.00010
NM_001039141.3(TRIOBP):c.3073C>T (p.Arg1025Ter) rs776962899 0.00006
NM_001039141.3(TRIOBP):c.3349C>T (p.Arg1117Ter) rs118204031 0.00003
NM_001039141.3(TRIOBP):c.2362C>T (p.Arg788Ter) rs118204029 0.00002
NM_001039141.3(TRIOBP):c.3202C>T (p.Arg1068Ter) rs118204030 0.00001
NC_000022.10:g.(?_38111750)_(38111961_?)del
NM_001039141.3(TRIOBP):c.1195C>T (p.Arg399Ter) rs750078356
NM_001039141.3(TRIOBP):c.1222C>T (p.Gln408Ter) rs2145832569
NM_001039141.3(TRIOBP):c.1342del (p.Arg448fs)
NM_001039141.3(TRIOBP):c.1420C>T (p.Arg474Ter) rs1225633423
NM_001039141.3(TRIOBP):c.1447C>T (p.Gln483Ter) rs1060499809
NM_001039141.3(TRIOBP):c.1741C>T (p.Gln581Ter) rs118204027
NM_001039141.3(TRIOBP):c.1783C>T (p.Arg595Ter) rs371412957
NM_001039141.3(TRIOBP):c.1861C>T (p.Arg621Ter)
NM_001039141.3(TRIOBP):c.1960C>T (p.Arg654Ter)
NM_001039141.3(TRIOBP):c.2472del (p.Arg825fs)
NM_001039141.3(TRIOBP):c.251_254+22del rs1555894574
NM_001039141.3(TRIOBP):c.2548C>T (p.Gln850Ter)
NM_001039141.3(TRIOBP):c.2581C>T (p.Arg861Ter)
NM_001039141.3(TRIOBP):c.2968C>T (p.Arg990Ter) rs1228392408
NM_001039141.3(TRIOBP):c.3055G>A (p.Gly1019Arg) rs549095193
NM_001039141.3(TRIOBP):c.3202_3203del (p.Asp1069fs) rs1601632909
NM_001039141.3(TRIOBP):c.3214dup (p.Arg1072fs) rs1485334519
NM_001039141.3(TRIOBP):c.3232dup (p.Arg1078fs) rs768625959
NM_001039141.3(TRIOBP):c.3295C>T (p.Gln1099Ter)
NM_001039141.3(TRIOBP):c.3460_3461del (p.Leu1154fs) rs771696726
NM_001039141.3(TRIOBP):c.3487_3533del (p.Pro1163fs) rs1569042640
NM_001039141.3(TRIOBP):c.3524C>A (p.Ser1175Ter) rs1569042693
NM_001039141.3(TRIOBP):c.3616_3617del (p.Leu1206fs)
NM_001039141.3(TRIOBP):c.3634_3646del (p.Leu1212fs) rs1569042782
NM_001039141.3(TRIOBP):c.3672_3673del (p.Arg1225fs) rs2145835560
NM_001039141.3(TRIOBP):c.3718del (p.Leu1240fs)
NM_001039141.3(TRIOBP):c.3854_3855del (p.Arg1285fs) rs750744696
NM_001039141.3(TRIOBP):c.4291G>T (p.Glu1431Ter) rs1569046250
NM_001039141.3(TRIOBP):c.4294G>T (p.Glu1432Ter)
NM_001039141.3(TRIOBP):c.4320_4321del (p.His1440fs)
NM_001039141.3(TRIOBP):c.4987dup (p.Gln1663fs)
NM_001039141.3(TRIOBP):c.5300_5301del (p.Leu1767fs)
NM_001039141.3(TRIOBP):c.6260del (p.Glu2087fs) rs2145871872
NM_001039141.3(TRIOBP):c.6598C>T (p.Arg2200Ter) rs727503528
NM_001039141.3(TRIOBP):c.889C>T (p.Gln297Ter) rs118204028

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.