ClinVar Miner

List of variants in gene TTC8 studied for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 170
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_144596.4(TTC8):c.*238G>A rs1048190 0.20574
NM_144596.4(TTC8):c.1432-12T>C rs79747892 0.03653
NM_144596.4(TTC8):c.*472A>C rs59300815 0.03638
NM_144596.4(TTC8):c.*57C>T rs74079414 0.01106
NM_144596.4(TTC8):c.*493T>C rs60082659 0.01012
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.284A>G (p.Lys95Arg) rs150880478 0.00272
NM_144596.4(TTC8):c.*93G>A rs116740320 0.00263
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.1327C>T (p.Arg443Trp) rs140698625 0.00064
NM_144596.4(TTC8):c.*83A>G rs147325843 0.00059
NM_144596.4(TTC8):c.330-15T>A rs187484893 0.00059
NM_144596.4(TTC8):c.910-16T>G rs199763558 0.00053
NM_144596.4(TTC8):c.669G>A (p.Lys223=) rs141304350 0.00026
NM_144596.4(TTC8):c.*92C>T rs148799039 0.00024
NM_144596.4(TTC8):c.909+18T>C rs111707320 0.00024
NM_144596.4(TTC8):c.1262G>C (p.Arg421Thr) rs374742528 0.00021
NM_144596.4(TTC8):c.1417A>G (p.Thr473Ala) rs376411291 0.00021
NM_144596.4(TTC8):c.1463C>T (p.Ala488Val) rs199649536 0.00016
NM_144596.4(TTC8):c.1063A>T (p.Met355Leu) rs140163629 0.00012
NM_144596.4(TTC8):c.433G>A (p.Ala145Thr) rs540856754 0.00010
NM_144596.4(TTC8):c.1294G>A (p.Glu432Lys) rs114401181 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.905A>G (p.Tyr302Cys) rs370111364 0.00008
NM_144596.4(TTC8):c.308G>T (p.Gly103Val) rs140710339 0.00007
NM_144596.4(TTC8):c.*247T>C rs886050879 0.00006
NM_144596.4(TTC8):c.1051C>T (p.Arg351Trp) rs755412340 0.00006
NM_144596.4(TTC8):c.4A>G (p.Ser2Gly) rs759112760 0.00006
NM_144596.4(TTC8):c.874G>A (p.Val292Ile) rs375086490 0.00006
NM_144596.4(TTC8):c.913A>G (p.Met305Val) rs143237548 0.00006
NM_144596.4(TTC8):c.1078G>A (p.Gly360Ser) rs771231605 0.00005
NM_144596.4(TTC8):c.489G>A (p.Thr163=) rs119103286 0.00004
NM_144596.4(TTC8):c.800T>A (p.Val267Asp) rs770333148 0.00004
NM_144596.4(TTC8):c.54G>A (p.Arg18=) rs745942356 0.00003
NM_144596.4(TTC8):c.980A>G (p.Glu327Gly) rs749721461 0.00003
NM_144596.4(TTC8):c.1042T>C (p.Phe348Leu) rs200086953 0.00002
NM_144596.4(TTC8):c.1382C>T (p.Ala461Val) rs139195149 0.00002
NM_144596.4(TTC8):c.322G>A (p.Ala108Thr) rs1000702394 0.00002
NM_144596.4(TTC8):c.43T>C (p.Phe15Leu) rs1379428942 0.00002
NM_144596.4(TTC8):c.445C>T (p.Arg149Cys) rs781214218 0.00002
NM_144596.4(TTC8):c.466G>A (p.Gly156Arg) rs750521601 0.00002
NM_144596.4(TTC8):c.5G>A (p.Ser2Asn) rs199571677 0.00002
NM_144596.4(TTC8):c.607G>A (p.Glu203Lys) rs1018209116 0.00002
NM_144596.4(TTC8):c.625-12T>C rs372412832 0.00002
NM_144596.4(TTC8):c.799-11C>T rs768485587 0.00002
NM_144596.4(TTC8):c.855A>C (p.Leu285Phe) rs774379732 0.00002
NM_144596.4(TTC8):c.988G>A (p.Ala330Thr) rs568563702 0.00002
NM_144596.4(TTC8):c.1133T>C (p.Met378Thr) rs1003053014 0.00001
NM_144596.4(TTC8):c.114+12C>A rs372634452 0.00001
NM_144596.4(TTC8):c.1215T>G (p.His405Gln) rs753212470 0.00001
NM_144596.4(TTC8):c.1363C>A (p.Gln455Lys) rs773278542 0.00001
NM_144596.4(TTC8):c.1402C>T (p.His468Tyr) rs148602884 0.00001
NM_144596.4(TTC8):c.145-10T>C rs754997963 0.00001
NM_144596.4(TTC8):c.265+1G>A rs139234943 0.00001
NM_144596.4(TTC8):c.275C>T (p.Thr92Met) rs886050877 0.00001
NM_144596.4(TTC8):c.298A>G (p.Asn100Asp) rs758294605 0.00001
NM_144596.4(TTC8):c.452T>A (p.Ile151Asn) rs774233751 0.00001
NM_144596.4(TTC8):c.640G>A (p.Ala214Thr) rs1295139564 0.00001
NM_144596.4(TTC8):c.711-16A>C rs747396066 0.00001
NM_144596.4(TTC8):c.915del (p.Met305fs) rs1431207606 0.00001
NM_144596.4(TTC8):c.950A>C (p.Glu317Ala) rs1220094479 0.00001
NM_144596.4(TTC8):c.*17A>G rs1164204068
NM_144596.4(TTC8):c.*377C>T rs1395639006
NM_144596.4(TTC8):c.*418G>A rs2094963356
NM_144596.4(TTC8):c.*45A>C rs1273103151
NM_144596.4(TTC8):c.-38C>A rs886050876
NM_144596.4(TTC8):c.-44C>T rs571786285
NM_144596.4(TTC8):c.1013A>T (p.Tyr338Phe)
NM_144596.4(TTC8):c.1037T>C (p.Leu346Pro)
NM_144596.4(TTC8):c.1101G>T (p.Gly367=)
NM_144596.4(TTC8):c.1124A>C (p.Gln375Pro) rs774216735
NM_144596.4(TTC8):c.1131_1135delinsC (p.Met378fs)
NM_144596.4(TTC8):c.1132_1133del (p.Met378fs)
NM_144596.4(TTC8):c.113A>G (p.Gln38Arg) rs1224545398
NM_144596.4(TTC8):c.114+5C>T
NM_144596.4(TTC8):c.1145C>T (p.Ser382Leu)
NM_144596.4(TTC8):c.115-2A>G rs587777809
NM_144596.4(TTC8):c.1224+1G>C
NM_144596.4(TTC8):c.1238C>G (p.Thr413Arg)
NM_144596.4(TTC8):c.1277A>G (p.Asn426Ser)
NM_144596.4(TTC8):c.1309C>G (p.Leu437Val)
NM_144596.4(TTC8):c.1309dup (p.Leu437fs)
NM_144596.4(TTC8):c.1323G>T (p.Glu441Asp)
NM_144596.4(TTC8):c.1338C>T (p.His446=)
NM_144596.4(TTC8):c.1340T>C (p.Val447Ala)
NM_144596.4(TTC8):c.1343_1347+17del rs2141038703
NM_144596.4(TTC8):c.1347+4A>G
NM_144596.4(TTC8):c.1347G>C (p.Gln449His) rs876661403
NM_144596.4(TTC8):c.1348-1G>A
NM_144596.4(TTC8):c.1400C>T (p.Pro467Leu)
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.148G>T (p.Ala50Ser)
NM_144596.4(TTC8):c.1491C>T (p.Asp497=) rs886050878
NM_144596.4(TTC8):c.170C>T (p.Ala57Val)
NM_144596.4(TTC8):c.172C>A (p.Leu58Ile)
NM_144596.4(TTC8):c.173T>C (p.Leu58Pro)
NM_144596.4(TTC8):c.176C>T (p.Thr59Ile)
NM_144596.4(TTC8):c.192A>G (p.Ile64Met)
NM_144596.4(TTC8):c.193G>A (p.Asp65Asn) rs2094769718
NM_144596.4(TTC8):c.1A>G (p.Met1Val) rs747906724
NM_144596.4(TTC8):c.1A>T (p.Met1Leu)
NM_144596.4(TTC8):c.201_204del (p.Ile67fs)
NM_144596.4(TTC8):c.209A>T (p.Asp70Val)
NM_144596.4(TTC8):c.214G>A (p.Glu72Lys)
NM_144596.4(TTC8):c.214G>T (p.Glu72Ter)
NM_144596.4(TTC8):c.256C>T (p.Gln86Ter)
NM_144596.4(TTC8):c.265+1_265+2del rs1595939517
NM_144596.4(TTC8):c.265+1del
NM_144596.4(TTC8):c.293del (p.Gly98fs) rs1271312946
NM_144596.4(TTC8):c.2T>C (p.Met1Thr) rs776086794
NM_144596.4(TTC8):c.305C>T (p.Thr102Ile) rs1341297017
NM_144596.4(TTC8):c.324C>T (p.Ala108=) rs571883979
NM_144596.4(TTC8):c.329+4T>C
NM_144596.4(TTC8):c.336C>G (p.Ile112Met) rs2140976682
NM_144596.4(TTC8):c.337A>G (p.Thr113Ala)
NM_144596.4(TTC8):c.340C>T (p.Gln114Ter)
NM_144596.4(TTC8):c.341A>G (p.Gln114Arg)
NM_144596.4(TTC8):c.400A>G (p.Thr134Ala)
NM_144596.4(TTC8):c.417C>G (p.Ile139Met) rs2094779029
NM_144596.4(TTC8):c.44T>C (p.Phe15Ser)
NM_144596.4(TTC8):c.456dup (p.Ser153fs)
NM_144596.4(TTC8):c.488C>T (p.Thr163Met) rs758942370
NM_144596.4(TTC8):c.502dup (p.Thr168fs)
NM_144596.4(TTC8):c.506G>A (p.Ser169Asn)
NM_144596.4(TTC8):c.532_535del (p.Ser178fs)
NM_144596.4(TTC8):c.533C>G (p.Ser178Cys)
NM_144596.4(TTC8):c.555T>G (p.Tyr185Ter)
NM_144596.4(TTC8):c.559C>T (p.Gln187Ter) rs376035653
NM_144596.4(TTC8):c.580-2A>G
NM_144596.4(TTC8):c.600dup (p.His201fs)
NM_144596.4(TTC8):c.624+1_624+2del
NM_144596.4(TTC8):c.625-1G>T
NM_144596.4(TTC8):c.62A>T (p.Gln21Leu) rs2094690662
NM_144596.4(TTC8):c.638dup (p.Ala214fs)
NM_144596.4(TTC8):c.650C>A (p.Thr217Lys)
NM_144596.4(TTC8):c.662A>G (p.Gln221Arg)
NM_144596.4(TTC8):c.677G>A (p.Trp226Ter)
NM_144596.4(TTC8):c.681G>A (p.Trp227Ter)
NM_144596.4(TTC8):c.710+4A>C rs1352481954
NM_144596.4(TTC8):c.711-2A>G
NM_144596.4(TTC8):c.715G>C (p.Gly239Arg) rs374351698
NM_144596.4(TTC8):c.725G>A (p.Arg242His)
NM_144596.4(TTC8):c.739C>T (p.Gln247Ter)
NM_144596.4(TTC8):c.747del (p.Lys249fs)
NM_144596.4(TTC8):c.785T>C (p.Leu262Pro) rs1459496188
NM_144596.4(TTC8):c.798+1G>A
NM_144596.4(TTC8):c.798+4A>G
NM_144596.4(TTC8):c.799-2A>G rs771218088
NM_144596.4(TTC8):c.823_839dup (p.Leu280_Phe281insTer)
NM_144596.4(TTC8):c.851del (p.Gly284fs)
NM_144596.4(TTC8):c.859A>G (p.Lys287Glu)
NM_144596.4(TTC8):c.866C>T (p.Pro289Leu)
NM_144596.4(TTC8):c.88A>G (p.Met30Val)
NM_144596.4(TTC8):c.8C>T (p.Ser3Leu) rs752229926
NM_144596.4(TTC8):c.905A>C (p.Tyr302Ser)
NM_144596.4(TTC8):c.910-8G>T
NM_144596.4(TTC8):c.917A>G (p.Asn306Ser)
NM_144596.4(TTC8):c.923T>C (p.Met308Thr) rs2094927396
NM_144596.4(TTC8):c.936del (p.Glu313fs)
NM_144596.4(TTC8):c.949G>T (p.Glu317Ter)
NM_144596.4(TTC8):c.94G>A (p.Glu32Lys)
NM_144596.4(TTC8):c.94G>T (p.Glu32Ter)
NM_144596.4(TTC8):c.964G>A (p.Asp322Asn) rs2094927630
NM_144596.4(TTC8):c.983C>T (p.Ala328Val) rs755533153

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.