ClinVar Miner

List of variants in gene TRAF7 studied for Cardiac, facial, and digital anomalies with developmental delay

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032271.3(TRAF7):c.584C>T (p.Ala195Val) rs761486543 0.00003
NM_032271.3(TRAF7):c.1660G>A (p.Val554Ile) rs749613683 0.00002
NM_032271.3(TRAF7):c.1014C>T (p.Asp338=) rs201641425 0.00001
NM_032271.3(TRAF7):c.1063C>T (p.Arg355Trp) rs2093122295 0.00001
NM_032271.3(TRAF7):c.1787C>T (p.Thr596Met) rs1316961587 0.00001
NM_032271.3(TRAF7):c.487G>A (p.Val163Met) rs751318317 0.00001
NM_032271.3(TRAF7):c.1036A>G (p.Lys346Glu) rs1567252467
NM_032271.3(TRAF7):c.1111C>G (p.Arg371Gly) rs1567252659
NM_032271.3(TRAF7):c.1111C>T (p.Arg371Trp) rs1567252659
NM_032271.3(TRAF7):c.1112G>A (p.Arg371Gln) rs1567252663
NM_032271.3(TRAF7):c.1135+7A>G rs2141290647
NM_032271.3(TRAF7):c.1204C>G (p.Leu402Val) rs2141291233
NM_032271.3(TRAF7):c.1331C>T (p.Ala444Val) rs2545008173
NM_032271.3(TRAF7):c.1347-1G>C rs2093130178
NM_032271.3(TRAF7):c.1510G>C (p.Asp504His) rs1596680065
NM_032271.3(TRAF7):c.1529T>A (p.Leu510Gln)
NM_032271.3(TRAF7):c.1567G>T (p.Val523Leu) rs763780388
NM_032271.3(TRAF7):c.1570C>T (p.Arg524Trp) rs2093132159
NM_032271.3(TRAF7):c.160A>C (p.Lys54Gln)
NM_032271.3(TRAF7):c.1673C>T (p.Ser558Phe) rs2141297268
NM_032271.3(TRAF7):c.1746+2dup
NM_032271.3(TRAF7):c.1783C>G (p.Leu595Val) rs2141298490
NM_032271.3(TRAF7):c.178C>T (p.Pro60Ser) rs1567249641
NM_032271.3(TRAF7):c.1795G>A (p.Val599Met)
NM_032271.3(TRAF7):c.1798G>A (p.Gly600Ser) rs2141298527
NM_032271.3(TRAF7):c.1801A>G (p.Thr601Ala) rs1567254067
NM_032271.3(TRAF7):c.1839_1843del (p.Thr614fs) rs2093134778
NM_032271.3(TRAF7):c.1886G>A (p.Ser629Asn) rs2093135960
NM_032271.3(TRAF7):c.1919T>C (p.Leu640Pro) rs2141299157
NM_032271.3(TRAF7):c.1936G>A (p.Val646Ile)
NM_032271.3(TRAF7):c.1958G>T (p.Arg653Leu) rs2545012659
NM_032271.3(TRAF7):c.1964G>A (p.Arg655Gln) rs1331463984
NM_032271.3(TRAF7):c.1999G>C (p.Val667Leu) rs2545013180
NM_032271.3(TRAF7):c.2010C>A (p.Cys670Ter)
NM_032271.3(TRAF7):c.238A>G (p.Ile80Val)
NM_032271.3(TRAF7):c.852C>G (p.Phe284Leu)
NM_032271.3(TRAF7):c.905A>G (p.His302Arg)
NM_032271.3(TRAF7):c.943_944delinsGG (p.Leu315Gly) rs2545006585

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.