ClinVar Miner

List of variants in gene TTC7A reported as pathogenic

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Total variants: 53
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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.793C>T (p.Arg265Trp) rs150269540 0.00003
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.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.(?_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.1183dup (p.Gln395fs) rs886042806
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.1802+3G>C rs1572961263
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.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.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.499G>T (p.Glu167Ter)
NM_020458.4(TTC7A):c.764+1del rs886037746
NM_020458.4(TTC7A):c.829C>T (p.Gln277Ter) rs587777547

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