ClinVar Miner

List of variants in gene TTC7A studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 168
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020458.4(TTC7A):c.2355+291G>C rs940737 0.85285
NM_020458.4(TTC7A):c.1641+136T>C rs6713052 0.58495
NM_020458.4(TTC7A):c.2017+22C>A rs3816066 0.51005
NM_020458.4(TTC7A):c.1569-301A>G rs919880 0.47408
NM_020458.4(TTC7A):c.1802+279G>C rs7602479 0.42934
NM_020458.4(TTC7A):c.1510+121A>G rs3814036 0.42566
NM_020458.4(TTC7A):c.1393-274T>C rs13000736 0.38042
NM_020458.4(TTC7A):c.1642-305G>A rs4332965 0.37989
NM_020458.4(TTC7A):c.1393-275A>G rs13023952 0.37668
NM_020458.4(TTC7A):c.1568+215A>G rs12988535 0.36713
NM_020458.4(TTC7A):c.1002-274T>C rs57182920 0.28790
NM_020458.4(TTC7A):c.1919+98G>A rs12712986 0.26226
NM_020458.4(TTC7A):c.348+122G>T rs2033533 0.20382
NM_020458.4(TTC7A):c.1920-45C>G rs2304287 0.20268
NM_020458.4(TTC7A):c.1642-66C>T rs2304289 0.19043
NM_020458.4(TTC7A):c.1641+200T>C rs13400315 0.18911
NM_020458.4(TTC7A):c.1612G>C (p.Val538Leu) rs2304290 0.18833
NM_020458.4(TTC7A):c.1641+57G>T rs72872958 0.18408
NM_020458.4(TTC7A):c.1204-31T>C rs13424540 0.18373
NM_020458.4(TTC7A):c.2018-99G>T rs34012189 0.18069
NM_020458.4(TTC7A):c.2544A>G (p.Val848=) rs3739099 0.17974
NM_020458.4(TTC7A):c.1066-13G>A rs13407983 0.17668
NM_020458.4(TTC7A):c.184+139C>T rs6755303 0.17553
NM_020458.4(TTC7A):c.1001+40A>G rs7576915 0.17382
NM_020458.4(TTC7A):c.1001+231A>G rs17480988 0.17356
NM_020458.4(TTC7A):c.765-140dup rs60188383 0.17321
NM_020458.4(TTC7A):c.1001+275T>C rs7564728 0.17147
NM_020458.4(TTC7A):c.2018-62C>T rs17482356 0.17097
NM_020458.4(TTC7A):c.2018-275C>T rs11693262 0.17091
NM_020458.4(TTC7A):c.798G>A (p.Glu266=) rs17480869 0.17038
NM_020458.4(TTC7A):c.844-303C>T rs6754795 0.16878
NM_020458.4(TTC7A):c.844-299G>C rs6755001 0.16869
NM_020458.4(TTC7A):c.1641+280C>T rs72806602 0.16734
NM_020458.4(TTC7A):c.1641+227G>A rs72806599 0.16623
NM_020458.4(TTC7A):c.765-175T>A rs6544948 0.12243
NM_020458.4(TTC7A):c.844-281A>C rs13411760 0.12241
NM_020458.4(TTC7A):c.1393-168A>G rs7565682 0.11997
NM_020458.4(TTC7A):c.1393-167A>C rs7565683 0.11996
NM_020458.4(TTC7A):c.765-248C>T rs72888558 0.09964
NM_020458.4(TTC7A):c.1641+279A>C rs72806600 0.09917
NM_020458.4(TTC7A):c.2034G>A (p.Ser678=) rs3739100 0.09488
NM_020458.4(TTC7A):c.300C>T (p.Ser100=) rs61738825 0.07730
NM_020458.4(TTC7A):c.1203+133_1203+134insACTTGACC rs200441134 0.07321
NM_020458.4(TTC7A):c.2017+213C>T rs76906867 0.07014
NM_020458.4(TTC7A):c.843+173G>A rs6751621 0.06939
NM_020458.4(TTC7A):c.1392+57C>T rs55944397 0.06699
NM_020458.4(TTC7A):c.1920-53C>T rs77908208 0.06668
NM_020458.4(TTC7A):c.1393-256C>T rs7592145 0.06282
NM_020458.4(TTC7A):c.1510+177C>T rs3814037 0.06244
NM_020458.4(TTC7A):c.517+301C>T rs6726941 0.06180
NM_020458.4(TTC7A):c.184+235A>C rs6729569 0.05809
NM_020458.4(TTC7A):c.2202C>T (p.Ile734=) rs17036191 0.05009
NM_020458.4(TTC7A):c.1511-68T>C rs111382384 0.04926
NM_020458.4(TTC7A):c.1288-216G>A rs17036060 0.04515
NM_020458.4(TTC7A):c.1002-39G>T rs114356926 0.04219
NM_020458.4(TTC7A):c.1204-58G>A rs145220423 0.03864
NM_020458.4(TTC7A):c.1204-60G>T rs148834702 0.03861
NM_020458.4(TTC7A):c.1288-87C>A rs61155978 0.03825
NM_020458.4(TTC7A):c.1920-131C>A rs114757316 0.02968
NM_020458.4(TTC7A):c.1860C>T (p.Leu620=) rs13427658 0.02838
NM_020458.4(TTC7A):c.1802+68A>C rs73929359 0.02344
NM_020458.4(TTC7A):c.2017+133C>T rs115411339 0.02276
NM_020458.4(TTC7A):c.1641+194C>T rs73929355 0.02163
NM_020458.4(TTC7A):c.1919+82G>T rs79955986 0.02055
NM_020458.4(TTC7A):c.1919+1001C>T rs115175738 0.02039
NM_020458.4(TTC7A):c.1288-242C>T rs77652838 0.02016
NM_020458.4(TTC7A):c.2017+101G>A rs114824855 0.01978
NM_020458.4(TTC7A):c.1919+873G>T rs4953451 0.01885
NM_020458.4(TTC7A):c.1066-133G>T rs113344115 0.01680
NM_020458.4(TTC7A):c.1919+154A>G rs34868688 0.01617
NM_020458.4(TTC7A):c.844-119C>T rs72888559 0.01562
NM_020458.4(TTC7A):c.2153-101C>A rs73929369 0.01561
NM_020458.4(TTC7A):c.1511-102G>A rs73929354 0.01265
NM_020458.4(TTC7A):c.1641+17C>T rs78064634 0.01232
NM_020458.4(TTC7A):c.1393-299C>G rs10205984 0.01118
NM_020458.4(TTC7A):c.1510+176G>A rs10209037 0.01076
NM_020458.4(TTC7A):c.2356-202G>A rs78575079 0.00949
NM_020458.4(TTC7A):c.873G>C (p.Leu291=) rs113997845 0.00851
NM_020458.4(TTC7A):c.2152+20T>C rs13001154 0.00805
NM_020458.4(TTC7A):c.517+62C>G rs118098285 0.00713
NM_020458.4(TTC7A):c.649-10C>T rs149360779 0.00698
NM_020458.4(TTC7A):c.1919+667A>G rs113150549 0.00695
NM_020458.4(TTC7A):c.649-338C>A rs74553208 0.00578
NM_020458.4(TTC7A):c.870C>G (p.Val290=) rs144304124 0.00509
NM_020458.4(TTC7A):c.2170C>A (p.Gln724Lys) rs140166160 0.00442
NM_020458.4(TTC7A):c.1095G>T (p.Val365=) rs113844968 0.00280
NM_020458.4(TTC7A):c.2460C>T (p.Gly820=) rs58422168 0.00260
NM_020458.4(TTC7A):c.1817A>G (p.Lys606Arg) rs139010200 0.00210
NM_020458.4(TTC7A):c.2014T>C (p.Ser672Pro) rs149602485 0.00210
NM_020458.4(TTC7A):c.1337C>T (p.Ser446Leu) rs114202807 0.00207
NM_020458.4(TTC7A):c.2211G>A (p.Ala737=) rs142959785 0.00177
NM_020458.4(TTC7A):c.1543C>T (p.Arg515Trp) rs144064667 0.00167
NM_020458.4(TTC7A):c.1447G>A (p.Gly483Arg) rs150438028 0.00166
NM_020458.4(TTC7A):c.1348G>A (p.Val450Met) rs114276698 0.00136
NM_020458.4(TTC7A):c.1129C>G (p.Gln377Glu) rs117304542 0.00117
NM_020458.4(TTC7A):c.2085C>G (p.Pro695=) rs139460494 0.00095
NM_020458.4(TTC7A):c.347C>T (p.Ser116Leu) rs115234247 0.00084
NM_020458.4(TTC7A):c.974G>A (p.Arg325Gln) rs144971707 0.00055
NM_020458.4(TTC7A):c.1449G>A (p.Gly483=) rs142810509 0.00025
NM_020458.4(TTC7A):c.1189G>A (p.Val397Ile) rs146284515 0.00016
NM_020458.4(TTC7A):c.794G>A (p.Arg265Gln) rs78745374 0.00014
NM_020458.4(TTC7A):c.2496C>T (p.Ala832=) rs553994940 0.00013
NM_020458.4(TTC7A):c.1070C>G (p.Thr357Ser) rs200443615 0.00011
NM_020458.4(TTC7A):c.1641+3G>C rs370452371 0.00011
NM_020458.4(TTC7A):c.1919+10C>T rs201704252 0.00011
NM_020458.4(TTC7A):c.1093G>A (p.Val365Met) rs202176990 0.00009
NM_020458.4(TTC7A):c.806G>A (p.Arg269Gln) rs200332198 0.00009
NM_020458.4(TTC7A):c.2444C>T (p.Ala815Val) rs748142531 0.00007
NM_020458.4(TTC7A):c.432C>T (p.Tyr144=) rs767549499 0.00006
NM_020458.4(TTC7A):c.1509C>T (p.Asp503=) rs753851181 0.00004
NM_020458.4(TTC7A):c.1518G>A (p.Leu506=) rs759226270 0.00004
NM_020458.4(TTC7A):c.1433T>C (p.Leu478Pro) rs201100272 0.00003
NM_020458.4(TTC7A):c.208G>A (p.Ala70Thr) rs367596523 0.00003
NM_020458.4(TTC7A):c.211G>A (p.Glu71Lys) rs147914967 0.00003
NM_020458.4(TTC7A):c.2252G>A (p.Arg751Gln) rs549475664 0.00003
NM_020458.4(TTC7A):c.2312C>T (p.Ala771Val) rs538380438 0.00003
NM_020458.4(TTC7A):c.280A>C (p.Lys94Gln) rs766411601 0.00003
NM_020458.4(TTC7A):c.1016A>G (p.Lys339Arg) rs777088531 0.00002
NM_020458.4(TTC7A):c.2018-1G>C rs948534045 0.00002
NM_020458.4(TTC7A):c.497C>T (p.Ser166Leu) rs752931401 0.00002
NM_020458.4(TTC7A):c.668C>T (p.Ser223Leu) rs267599393 0.00002
NM_020458.4(TTC7A):c.849G>A (p.Ala283=) rs763190482 0.00002
NM_020458.4(TTC7A):c.1008C>T (p.Tyr336=) rs587777548 0.00001
NM_020458.4(TTC7A):c.1214G>A (p.Arg405Gln) rs768367263 0.00001
NM_020458.4(TTC7A):c.1402G>A (p.Ala468Thr) rs1191845827 0.00001
NM_020458.4(TTC7A):c.1616C>T (p.Ser539Leu) rs776906926 0.00001
NM_020458.4(TTC7A):c.2051G>A (p.Arg684Gln) rs781599404 0.00001
NM_020458.4(TTC7A):c.2067G>A (p.Met689Ile) rs1387193729 0.00001
NM_020458.4(TTC7A):c.2127G>A (p.Thr709=) rs759287273 0.00001
NM_020458.4(TTC7A):c.2468T>C (p.Leu823Pro) rs587776972 0.00001
NM_020458.4(TTC7A):c.2495C>T (p.Ala832Val) rs755985958 0.00001
NM_020458.4(TTC7A):c.2517C>T (p.Ala839=) rs751895973 0.00001
NM_020458.4(TTC7A):c.396C>T (p.Tyr132=) rs780299149 0.00001
NM_020458.4(TTC7A):c.911del (p.Leu304fs) rs1558551117 0.00001
NM_020458.4(TTC7A):c.1026C>T (p.Ile342=) rs151317740
NM_020458.4(TTC7A):c.1073G>T (p.Arg358Leu) rs752771480
NM_020458.4(TTC7A):c.1183dup (p.Gln395fs) rs886042806
NM_020458.4(TTC7A):c.1203+132del rs879889384
NM_020458.4(TTC7A):c.1250G>A (p.Trp417Ter) rs1558568116
NM_020458.4(TTC7A):c.1297G>T (p.Ala433Ser) rs925918293
NM_020458.4(TTC7A):c.1318T>C (p.Cys440Arg) rs1326323845
NM_020458.4(TTC7A):c.1390T>A (p.Trp464Arg) rs1131691950
NM_020458.4(TTC7A):c.1580T>C (p.Leu527Pro) rs1679632817
NM_020458.4(TTC7A):c.1641+12G>C rs11885389
NM_020458.4(TTC7A):c.1641+229C>G rs74443796
NM_020458.4(TTC7A):c.1802+95A>G rs7575628
NM_020458.4(TTC7A):c.1919+162G>A rs7593339
NM_020458.4(TTC7A):c.1978A>T (p.Met660Leu) rs375666264
NM_020458.4(TTC7A):c.2017+23A>G rs3816065
NM_020458.4(TTC7A):c.2018-19G>T rs143365344
NM_020458.4(TTC7A):c.2114A>G (p.Gln705Arg)
NM_020458.4(TTC7A):c.2275G>A (p.Gly759Ser) rs1422354897
NM_020458.4(TTC7A):c.2354T>C (p.Leu785Pro) rs1573068097
NM_020458.4(TTC7A):c.2355+202C>G rs919879
NM_020458.4(TTC7A):c.2378G>A (p.Gly793Asp)
NM_020458.4(TTC7A):c.2470dup (p.Gln824fs) rs768053395
NM_020458.4(TTC7A):c.2577A>C (p.Ter859Cys) rs1685001234
NM_020458.4(TTC7A):c.286G>T (p.Glu96Ter) rs886042805
NM_020458.4(TTC7A):c.412C>T (p.Arg138Ter) rs773754673
NM_020458.4(TTC7A):c.437G>T (p.Arg146Leu) rs61746139
NM_020458.4(TTC7A):c.649-226_649-217dup rs74444627
NM_020458.4(TTC7A):c.649-228_649-217dup rs74444627
NM_020458.4(TTC7A):c.765-304T>G rs6708635
NM_020458.4(TTC7A):c.843+117G>A rs6751599
NM_020458.4(TTC7A):c.873G>T (p.Leu291=) rs113997845
NM_020458.4(TTC7A):c.899A>G (p.Tyr300Cys) rs146719089
NM_020458.4(TTC7A):c.903G>A (p.Trp301Ter) rs989682938
NM_020458.4(TTC7A):c.912G>C (p.Leu304=) rs1572847181

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.