ClinVar Miner

List of variants in gene TTC8 reported as likely benign for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 136
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HGVS dbSNP gnomAD frequency
NM_144596.4(TTC8):c.625-5C>T rs137853922 0.00807
NM_144596.4(TTC8):c.194A>G (p.Asp65Gly) rs114557412 0.00354
NM_144596.4(TTC8):c.1401G>A (p.Pro467=) rs114064158 0.00319
NM_144596.4(TTC8):c.-25G>A rs7145692 0.00290
NM_144596.4(TTC8):c.*93G>A rs116740320 0.00263
NM_144596.4(TTC8):c.299A>G (p.Asn100Ser) rs139392523 0.00230
NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg) rs142938748 0.00227
NM_144596.4(TTC8):c.1077C>T (p.Asn359=) rs150896551 0.00141
NM_144596.4(TTC8):c.1231G>A (p.Gly411Arg) rs139773124 0.00071
NM_144596.4(TTC8):c.*83A>G rs147325843 0.00059
NM_144596.4(TTC8):c.910-16T>G rs199763558 0.00053
NM_144596.4(TTC8):c.909+18T>C rs111707320 0.00024
NM_144596.4(TTC8):c.1463C>T (p.Ala488Val) rs199649536 0.00016
NM_144596.4(TTC8):c.1432-16C>T rs373971173 0.00009
NM_144596.4(TTC8):c.1347+18G>A rs368504643 0.00008
NM_144596.4(TTC8):c.267C>A (p.Arg89=) rs200113889 0.00008
NM_144596.4(TTC8):c.171G>A (p.Ala57=) rs776886643 0.00005
NM_144596.4(TTC8):c.357T>C (p.Ile119=) rs567203939 0.00005
NM_144596.4(TTC8):c.1431+12C>T rs201053086 0.00004
NM_144596.4(TTC8):c.1328G>A (p.Arg443Gln) rs746920262 0.00003
NM_144596.4(TTC8):c.54G>A (p.Arg18=) rs745942356 0.00003
NM_144596.4(TTC8):c.372G>A (p.Arg124=) rs762722585 0.00002
NM_144596.4(TTC8):c.432C>T (p.Thr144=) rs748561167 0.00002
NM_144596.4(TTC8):c.625-12T>C rs372412832 0.00002
NM_144596.4(TTC8):c.642C>G (p.Ala214=) rs141305911 0.00002
NM_144596.4(TTC8):c.753C>T (p.Ala251=) rs367897453 0.00002
NM_144596.4(TTC8):c.799-11C>T rs768485587 0.00002
NM_144596.4(TTC8):c.114+12C>A rs372634452 0.00001
NM_144596.4(TTC8):c.1143C>T (p.Thr381=) rs1427115411 0.00001
NM_144596.4(TTC8):c.1158C>T (p.Ala386=) rs575960949 0.00001
NM_144596.4(TTC8):c.1257C>T (p.Cys419=) rs1304915093 0.00001
NM_144596.4(TTC8):c.1290C>T (p.His430=) rs370238882 0.00001
NM_144596.4(TTC8):c.1293C>T (p.Ala431=) rs757305114 0.00001
NM_144596.4(TTC8):c.1335C>T (p.Gly445=) rs770430375 0.00001
NM_144596.4(TTC8):c.1347+17C>T rs371494539 0.00001
NM_144596.4(TTC8):c.1353G>A (p.Arg451=) rs2094951123 0.00001
NM_144596.4(TTC8):c.1432-20T>C rs767425214 0.00001
NM_144596.4(TTC8):c.145-10T>C rs754997963 0.00001
NM_144596.4(TTC8):c.22C>T (p.Leu8=) rs139659023 0.00001
NM_144596.4(TTC8):c.266-5C>G rs982758929 0.00001
NM_144596.4(TTC8):c.329+19T>C rs1052249656 0.00001
NM_144596.4(TTC8):c.330-18A>C rs750012179 0.00001
NM_144596.4(TTC8):c.399C>A (p.Gly133=) rs766975286 0.00001
NM_144596.4(TTC8):c.462C>T (p.Ser154=) rs766005336 0.00001
NM_144596.4(TTC8):c.465C>T (p.Ser155=) rs1253468754 0.00001
NM_144596.4(TTC8):c.534T>C (p.Ser178=) rs200318980 0.00001
NM_144596.4(TTC8):c.711-16A>C rs747396066 0.00001
NM_144596.4(TTC8):c.84G>A (p.Thr28=) rs1390636663 0.00001
NM_144596.4(TTC8):c.885C>T (p.Leu295=) rs1052480994 0.00001
NM_144596.4(TTC8):c.987C>T (p.Ile329=) rs1024139303 0.00001
NM_144596.4(TTC8):c.1049+11C>T rs762777832
NM_144596.4(TTC8):c.1049+7T>G
NM_144596.4(TTC8):c.1050-13C>G
NM_144596.4(TTC8):c.1050-20G>A
NM_144596.4(TTC8):c.1071T>A (p.Ile357=)
NM_144596.4(TTC8):c.1101G>C (p.Gly367=) rs2141036668
NM_144596.4(TTC8):c.1125G>A (p.Gln375=) rs2141036744
NM_144596.4(TTC8):c.114+15C>G
NM_144596.4(TTC8):c.114+19C>T
NM_144596.4(TTC8):c.114+7G>C
NM_144596.4(TTC8):c.1224+15T>C rs777976437
NM_144596.4(TTC8):c.1224+15T>G
NM_144596.4(TTC8):c.1224+20T>C
NM_144596.4(TTC8):c.1224+8G>T
NM_144596.4(TTC8):c.1225-12T>C
NM_144596.4(TTC8):c.1225-18A>G
NM_144596.4(TTC8):c.1225-4G>T rs2094937777
NM_144596.4(TTC8):c.1233A>T (p.Gly411=)
NM_144596.4(TTC8):c.1281C>T (p.Asn427=)
NM_144596.4(TTC8):c.1308C>T (p.Asn436=) rs756352262
NM_144596.4(TTC8):c.1327C>A (p.Arg443=) rs140698625
NM_144596.4(TTC8):c.1347+7G>C rs774856265
NM_144596.4(TTC8):c.1356A>G (p.Ala452=) rs2141044281
NM_144596.4(TTC8):c.1401G>T (p.Pro467=)
NM_144596.4(TTC8):c.1431+10T>G
NM_144596.4(TTC8):c.1431+20_1431+24del
NM_144596.4(TTC8):c.1431+8C>G
NM_144596.4(TTC8):c.1449A>G (p.Arg483=)
NM_144596.4(TTC8):c.1452C>T (p.Ser484=) rs1353769883
NM_144596.4(TTC8):c.1464G>A (p.Ala488=) rs142073418
NM_144596.4(TTC8):c.1464G>C (p.Ala488=) rs142073418
NM_144596.4(TTC8):c.1491C>T (p.Asp497=) rs886050878
NM_144596.4(TTC8):c.1503A>G (p.Thr501=) rs1754480274
NM_144596.4(TTC8):c.1530G>A (p.Gln510=)
NM_144596.4(TTC8):c.156C>T (p.Ile52=) rs2140973252
NM_144596.4(TTC8):c.174A>G (p.Leu58=)
NM_144596.4(TTC8):c.177A>G (p.Thr59=)
NM_144596.4(TTC8):c.222T>C (p.Ile74=)
NM_144596.4(TTC8):c.265+19G>C
NM_144596.4(TTC8):c.265+8T>G rs182898340
NM_144596.4(TTC8):c.266-10del rs759785529
NM_144596.4(TTC8):c.266-4C>A
NM_144596.4(TTC8):c.276G>A (p.Thr92=)
NM_144596.4(TTC8):c.324C>T (p.Ala108=) rs571883979
NM_144596.4(TTC8):c.329+11C>G
NM_144596.4(TTC8):c.329+12T>C rs2140976349
NM_144596.4(TTC8):c.329+18A>G
NM_144596.4(TTC8):c.354C>A (p.Pro118=) rs2140976722
NM_144596.4(TTC8):c.366C>T (p.Phe122=)
NM_144596.4(TTC8):c.375C>T (p.Pro125=)
NM_144596.4(TTC8):c.381G>A (p.Thr127=)
NM_144596.4(TTC8):c.390A>G (p.Gly130=)
NM_144596.4(TTC8):c.432C>A (p.Thr144=) rs748561167
NM_144596.4(TTC8):c.438C>T (p.Tyr146=) rs2140977060
NM_144596.4(TTC8):c.465C>G (p.Ser155=)
NM_144596.4(TTC8):c.477C>T (p.Val159=)
NM_144596.4(TTC8):c.490-9C>A rs770386094
NM_144596.4(TTC8):c.490-9C>T rs770386094
NM_144596.4(TTC8):c.507T>C (p.Ser169=)
NM_144596.4(TTC8):c.528T>C (p.Asn176=) rs1555391010
NM_144596.4(TTC8):c.52A>C (p.Arg18=)
NM_144596.4(TTC8):c.552G>A (p.Lys184=) rs2094781397
NM_144596.4(TTC8):c.579+19T>G
NM_144596.4(TTC8):c.579+7A>G rs2140977991
NM_144596.4(TTC8):c.585G>A (p.Leu195=)
NM_144596.4(TTC8):c.624+19C>G
NM_144596.4(TTC8):c.624+8T>C rs2140982585
NM_144596.4(TTC8):c.625-20A>G
NM_144596.4(TTC8):c.69C>T (p.Cys23=) rs749406406
NM_144596.4(TTC8):c.711-13T>C
NM_144596.4(TTC8):c.729A>G (p.Glu243=)
NM_144596.4(TTC8):c.738A>G (p.Lys246=)
NM_144596.4(TTC8):c.777T>C (p.Asp259=) rs1164321723
NM_144596.4(TTC8):c.784C>T (p.Leu262=)
NM_144596.4(TTC8):c.786G>A (p.Leu262=) rs2094861022
NM_144596.4(TTC8):c.789C>T (p.Tyr263=)
NM_144596.4(TTC8):c.799-10T>C
NM_144596.4(TTC8):c.799-20G>T
NM_144596.4(TTC8):c.810A>C (p.Ser270=)
NM_144596.4(TTC8):c.864T>C (p.Phe288=)
NM_144596.4(TTC8):c.882G>A (p.Leu294=)
NM_144596.4(TTC8):c.903C>T (p.Ile301=) rs2141016259
NM_144596.4(TTC8):c.909+10G>A rs1566851784
NM_144596.4(TTC8):c.942T>C (p.Tyr314=) rs1340345868
NM_144596.4(TTC8):c.948A>G (p.Lys316=)
NM_144596.4(TTC8):c.96G>A (p.Glu32=)

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