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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 127

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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=)

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