ClinVar Miner

List of variants reported as pathogenic for Multiple gastrointestinal atresias by Invitae

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Total variants: 36
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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.1621C>T (p.Gln541Ter) rs765653721 0.00001
NM_020458.4(TTC7A):c.1783G>T (p.Glu595Ter) rs201481224 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_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.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.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.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

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