ClinVar Miner

List of variants in gene TTC7A studied for not provided

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Gene type:
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Total variants: 168
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HGVS dbSNP gnomAD frequency
NM_020458.4(TTC7A):c.2355+291G>C rs940737 0.85285
NM_020458.4(TTC7A):c.1641+136T>C rs6713052 0.58113
NM_020458.4(TTC7A):c.2017+22C>A rs3816066 0.50965
NM_020458.4(TTC7A):c.1569-301A>G rs919880 0.47408
NM_020458.4(TTC7A):c.1802+279G>C rs7602479 0.43425
NM_020458.4(TTC7A):c.1510+121A>G rs3814036 0.42566
NM_020458.4(TTC7A):c.1393-275A>G rs13023952 0.37668
NM_020458.4(TTC7A):c.1393-274T>C rs13000736 0.37644
NM_020458.4(TTC7A):c.1642-305G>A rs4332965 0.36880
NM_020458.4(TTC7A):c.1568+215A>G rs12988535 0.36439
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 0.20623
NM_020458.4(TTC7A):c.1920-45C>G rs2304287 0.20529
NM_020458.4(TTC7A):c.1641+200T>C rs13400315 0.19249
NM_020458.4(TTC7A):c.1642-66C>T rs2304289 0.19043
NM_020458.4(TTC7A):c.1612G>C (p.Val538Leu) rs2304290 0.18502
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.1066-13G>A rs13407983 0.17668
NM_020458.4(TTC7A):c.184+139C>T rs6755303 0.17553
NM_020458.4(TTC7A):c.1001+275T>C rs7564728 0.17417
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.798G>A (p.Glu266=) rs17480869 0.17316
NM_020458.4(TTC7A):c.844-303C>T rs6754795 0.17128
NM_020458.4(TTC7A):c.844-299G>C rs6755001 0.17117
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.2544A>G (p.Val848=) rs3739099 0.17069
NM_020458.4(TTC7A):c.1641+227G>A rs72806599 0.16793
NM_020458.4(TTC7A):c.1641+280C>T rs72806602 0.16734
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.1641+279A>C rs72806600 0.10086
NM_020458.4(TTC7A):c.765-248C>T rs72888558 0.09964
NM_020458.4(TTC7A):c.2034G>A (p.Ser678=) rs3739100 0.09488
NM_020458.4(TTC7A):c.300C>T (p.Ser100=) rs61738825 0.07874
NM_020458.4(TTC7A):c.1203+133_1203+134insACTTGACC rs200441134 0.07327
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.1920-53C>T rs77908208 0.06828
NM_020458.4(TTC7A):c.1392+57C>T rs55944397 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 0.06125
NM_020458.4(TTC7A):c.2202C>T (p.Ile734=) rs17036191 0.05377
NM_020458.4(TTC7A):c.1511-68T>C rs111382384 0.05308
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.1288-87C>A rs61155978 0.03978
NM_020458.4(TTC7A):c.1204-58G>A rs145220423 0.03928
NM_020458.4(TTC7A):c.1204-60G>T rs148834702 0.03926
NM_020458.4(TTC7A):c.1860C>T (p.Leu620=) rs13427658 0.03052
NM_020458.4(TTC7A):c.1920-131C>A rs114757316 0.02968
NM_020458.4(TTC7A):c.1802+68A>C rs73929359 0.02344
NM_020458.4(TTC7A):c.1641+194C>T rs73929355 0.02325
NM_020458.4(TTC7A):c.2017+133C>T rs115411339 0.02276
NM_020458.4(TTC7A):c.1919+82G>T rs79955986 0.02193
NM_020458.4(TTC7A):c.2017+101G>A rs114824855 0.02132
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.844-119C>T rs72888559 0.01697
NM_020458.4(TTC7A):c.1066-133G>T rs113344115 0.01680
NM_020458.4(TTC7A):c.2153-101C>A rs73929369 0.01675
NM_020458.4(TTC7A):c.1919+154A>G rs34868688 0.01617
NM_020458.4(TTC7A):c.1919+873G>T rs4953451 0.01424
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 0.01210
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.1919+667A>G rs113150549 0.00751
NM_020458.4(TTC7A):c.517+62C>G rs118098285 0.00701
NM_020458.4(TTC7A):c.649-10C>T rs149360779 0.00698
NM_020458.4(TTC7A):c.649-338C>A rs74553208 0.00578
NM_020458.4(TTC7A):c.870C>G (p.Val290=) rs144304124 0.00556
NM_020458.4(TTC7A):c.2170C>A (p.Gln724Lys) rs140166160 0.00442
NM_020458.4(TTC7A):c.1095G>T (p.Val365=) rs113844968 0.00279
NM_020458.4(TTC7A):c.2460C>T (p.Gly820=) rs58422168 0.00272
NM_020458.4(TTC7A):c.2014T>C (p.Ser672Pro) rs149602485 0.00217
NM_020458.4(TTC7A):c.1817A>G (p.Lys606Arg) rs139010200 0.00216
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 0.00024
NM_020458.4(TTC7A):c.794G>A (p.Arg265Gln) rs78745374 0.00015
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.1189G>A (p.Val397Ile) rs146284515 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.208G>A (p.Ala70Thr) rs367596523 0.00004
NM_020458.4(TTC7A):c.211G>A (p.Glu71Lys) rs147914967 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.1433T>C (p.Leu478Pro) rs201100272 0.00002
NM_020458.4(TTC7A):c.1978A>T (p.Met660Leu) rs375666264 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.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.2067G>A (p.Met689Ile) rs1387193729 0.00001
NM_020458.4(TTC7A):c.2127G>A (p.Thr709=) rs759287273 0.00001
NM_020458.4(TTC7A):c.2312C>T (p.Ala771Val) rs538380438 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.1008C>T (p.Tyr336=) rs587777548
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)
NM_020458.4(TTC7A):c.1318T>C (p.Cys440Arg)
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.2017+23A>G rs3816065
NM_020458.4(TTC7A):c.2018-19G>T rs143365344
NM_020458.4(TTC7A):c.2051G>A (p.Arg684Gln)
NM_020458.4(TTC7A):c.2114A>G (p.Gln705Arg)
NM_020458.4(TTC7A):c.2252G>A (p.Arg751Gln)
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

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