ClinVar Miner

List of variants in gene TTC7A studied for Gastrointestinal defects and immunodeficiency syndrome 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 58
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020458.4(TTC7A):c.2017+22C>A rs3816066 0.50965
NM_020458.4(TTC7A):c.1612G>C (p.Val538Leu) rs2304290 0.18502
NM_020458.4(TTC7A):c.2544A>G (p.Val848=) rs3739099 0.17069
NM_020458.4(TTC7A):c.2034G>A (p.Ser678=) rs3739100 0.09488
NM_020458.4(TTC7A):c.2014T>C (p.Ser672Pro) rs149602485 0.00217
NM_020458.4(TTC7A):c.1817A>G (p.Lys606Arg) rs139010200 0.00216
NM_020458.4(TTC7A):c.189C>G (p.Asp63Glu) rs112301354 0.00123
NM_020458.4(TTC7A):c.2484G>C (p.Gln828His) rs151032299 0.00088
NM_020458.4(TTC7A):c.1633G>A (p.Val545Ile) rs6755258 0.00076
NM_020458.4(TTC7A):c.974G>A (p.Arg325Gln) rs144971707 0.00055
NM_020458.4(TTC7A):c.1957A>G (p.Thr653Ala) rs113303079 0.00025
NM_020458.4(TTC7A):c.794G>A (p.Arg265Gln) rs78745374 0.00015
NM_020458.4(TTC7A):c.1189G>A (p.Val397Ile) rs146284515 0.00011
NM_020458.4(TTC7A):c.1204-2A>G rs876657392 0.00003
NM_020458.4(TTC7A):c.211G>A (p.Glu71Lys) rs147914967 0.00003
NM_020458.4(TTC7A):c.1433T>C (p.Leu478Pro) rs201100272 0.00002
NM_020458.4(TTC7A):c.2018-1G>C rs948534045 0.00002
NM_020458.4(TTC7A):c.1616C>T (p.Ser539Leu) rs776906926 0.00001
NM_020458.4(TTC7A):c.1621C>T (p.Gln541Ter) rs765653721 0.00001
NM_020458.4(TTC7A):c.2443G>T (p.Ala815Ser) rs779096998 0.00001
NM_020458.4(TTC7A):c.2468T>C (p.Leu823Pro) rs587776972 0.00001
NM_020458.4(TTC7A):c.2494G>A (p.Ala832Thr) rs876657393 0.00001
NM_020458.4(TTC7A):c.2515G>A (p.Ala839Thr) rs202044972 0.00001
NM_020458.4(TTC7A):c.436C>T (p.Arg146Trp) rs138592761 0.00001
NM_020458.4(TTC7A):c.844-1G>T rs777469885 0.00001
NM_020458.4(TTC7A):c.895T>A (p.Cys299Ser) rs1198449310 0.00001
NM_020458.4(TTC7A):c.911del (p.Leu304fs) rs1558551117 0.00001
NM_001288953.1(TTC7A):c.[1715A>G;1912T>C]
NM_020458.4(TTC7A):c.1001+3_1001+6del rs587776971
NM_020458.4(TTC7A):c.1008C>G (p.Tyr336Ter) rs587777548
NM_020458.4(TTC7A):c.1066-2A>T
NM_020458.4(TTC7A):c.1072C>T (p.Arg358Ter) rs1297794582
NM_020458.4(TTC7A):c.1183dup (p.Gln395fs) rs886042806
NM_020458.4(TTC7A):c.1199C>T (p.Ser400Leu)
NM_020458.4(TTC7A):c.1213C>T (p.Arg405Ter) rs779549457
NM_020458.4(TTC7A):c.1288-1G>T rs568082272
NM_020458.4(TTC7A):c.1355T>C (p.Leu452Pro)
NM_020458.4(TTC7A):c.1481del (p.Gly494fs) rs587777549
NM_020458.4(TTC7A):c.1510+105T>A rs587777551
NM_020458.4(TTC7A):c.1576C>T (p.Gln526Ter) rs786205698
NM_020458.4(TTC7A):c.1673_1674insG (p.Leu559fs) rs587777550
NM_020458.4(TTC7A):c.1869C>A (p.Cys623Ter) rs1682321195
NM_020458.4(TTC7A):c.1919+1G>A rs751311194
NM_020458.4(TTC7A):c.192del (p.Phe64fs) rs1476031758
NM_020458.4(TTC7A):c.2017+23A>G rs3816065
NM_020458.4(TTC7A):c.2056_2059delinsTAGT (p.Glu686_Glu687delinsTer)
NM_020458.4(TTC7A):c.2146C>T (p.Gln716Ter) rs762685822
NM_020458.4(TTC7A):c.2355+5G>A
NM_020458.4(TTC7A):c.2393C>T (p.Ala798Val)
NM_020458.4(TTC7A):c.2395C>T (p.Gln799Ter)
NM_020458.4(TTC7A):c.286G>T (p.Glu96Ter) rs886042805
NM_020458.4(TTC7A):c.295A>G (p.Met99Val) rs748068913
NM_020458.4(TTC7A):c.315_318del (p.Asn104_Tyr105insTer) rs886037747
NM_020458.4(TTC7A):c.412C>T (p.Arg138Ter) rs773754673
NM_020458.4(TTC7A):c.437G>T (p.Arg146Leu) rs61746139
NM_020458.4(TTC7A):c.517+1G>A
NM_020458.4(TTC7A):c.764+1del rs886037746
NM_020458.4(TTC7A):c.829C>T (p.Gln277Ter) rs587777547

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.