ClinVar Miner

List of variants in gene TTC8 reported as likely benign for Bardet-Biedl syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 127
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_144596.4(TTC8):c.299A>G (p.Asn100Ser) rs139392523 0.00230
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.910-16T>G rs199763558 0.00053
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.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=)

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.