ClinVar Miner

List of variants reported as pathogenic for Multiple gastrointestinal atresias

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020458.4(TTC7A):c.1784_1787del (p.Glu595fs) rs1300446486 0.00004
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.1616C>T (p.Ser539Leu) rs776906926 0.00001
NM_020458.4(TTC7A):c.1621C>T (p.Gln541Ter) rs765653721 0.00001
NM_020458.4(TTC7A):c.1783G>T (p.Glu595Ter) rs201481224 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.844-1G>T rs777469885 0.00001
NC_000002.11:g.(?_47132602)_(47206066_?)del
NC_000002.11:g.(?_47168661)_(47238594_?)del
NC_000002.11:g.(?_47177482)_(47301062_?)del
NC_000002.11:g.(?_47202092)_(47206066_?)del
NM_001288951.1(TTC7A):c.[1616C>T];[2587G>A]
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.1018dup (p.Asp340fs) rs762504554
NM_020458.4(TTC7A):c.1039dup (p.Leu347fs) rs1572849873
NM_020458.4(TTC7A):c.1072C>T (p.Arg358Ter) rs1297794582
NM_020458.4(TTC7A):c.1213C>T (p.Arg405Ter) rs779549457
NM_020458.4(TTC7A):c.1250G>A (p.Trp417Ter) rs1558568116
NM_020458.4(TTC7A):c.1281_1282insTT (p.Gly428fs)
NM_020458.4(TTC7A):c.1288-1G>T rs568082272
NM_020458.4(TTC7A):c.1322_1323del (p.Val441fs) rs762466884
NM_020458.4(TTC7A):c.1355dup (p.Met453fs) rs2104485613
NM_020458.4(TTC7A):c.1450G>T (p.Glu484Ter)
NM_020458.4(TTC7A):c.1481del (p.Gly494fs) rs587777549
NM_020458.4(TTC7A):c.1510+105T>A rs587777551
NM_020458.4(TTC7A):c.1528C>T (p.Gln510Ter)
NM_020458.4(TTC7A):c.1576C>T (p.Gln526Ter) rs786205698
NM_020458.4(TTC7A):c.1630del (p.Leu544fs)
NM_020458.4(TTC7A):c.1673_1674insG (p.Leu559fs) rs587777550
NM_020458.4(TTC7A):c.176del (p.Pro59fs)
NM_020458.4(TTC7A):c.1869C>A (p.Cys623Ter) rs1682321195
NM_020458.4(TTC7A):c.192del (p.Phe64fs) rs1476031758
NM_020458.4(TTC7A):c.2109del (p.Met704fs)
NM_020458.4(TTC7A):c.2146C>T (p.Gln716Ter) rs762685822
NM_020458.4(TTC7A):c.2264del (p.Ala755fs)
NM_020458.4(TTC7A):c.226C>T (p.Gln76Ter)
NM_020458.4(TTC7A):c.2272A>T (p.Lys758Ter)
NM_020458.4(TTC7A):c.2470C>T (p.Gln824Ter) rs1057516047
NM_020458.4(TTC7A):c.2470dup (p.Gln824fs) rs768053395
NM_020458.4(TTC7A):c.280A>T (p.Lys94Ter) rs766411601
NM_020458.4(TTC7A):c.315_318del (p.Asn104_Tyr105insTer) rs886037747
NM_020458.4(TTC7A):c.499G>T (p.Glu167Ter)
NM_020458.4(TTC7A):c.565del (p.Arg188_Leu189insTer) rs2104231304
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.