ClinVar Miner

List of variants in gene TTC7A reported as likely benign for Multiple gastrointestinal atresias

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Gene type:
ClinVar version:
Total variants: 337
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HGVS dbSNP gnomAD frequency
NM_020458.4(TTC7A):c.649-10C>T rs149360779 0.00698
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.1543C>T (p.Arg515Trp) rs144064667 0.00167
NM_020458.4(TTC7A):c.1447G>A (p.Gly483Arg) rs150438028 0.00166
NM_020458.4(TTC7A):c.2484G>C (p.Gln828His) rs151032299 0.00088
NM_020458.4(TTC7A):c.347C>T (p.Ser116Leu) rs115234247 0.00084
NM_020458.4(TTC7A):c.1138G>A (p.Ala380Thr) rs115479276 0.00082
NM_020458.4(TTC7A):c.1633G>A (p.Val545Ile) rs6755258 0.00076
NM_020458.4(TTC7A):c.328C>G (p.Leu110Val) rs201960602 0.00055
NM_020458.4(TTC7A):c.974G>A (p.Arg325Gln) rs144971707 0.00055
NM_020458.4(TTC7A):c.1137C>T (p.Ala379=) rs144690060 0.00042
NM_020458.4(TTC7A):c.1125C>T (p.Ser375=) rs144037049 0.00041
NM_020458.4(TTC7A):c.2246A>G (p.Tyr749Cys) rs200237098 0.00035
NM_020458.4(TTC7A):c.2258G>A (p.Arg753Gln) rs201842124 0.00030
NM_020458.4(TTC7A):c.1449G>A (p.Gly483=) rs142810509 0.00024
NM_020458.4(TTC7A):c.1569-9C>T rs375554852 0.00024
NM_020458.4(TTC7A):c.1803-10G>A rs111758559 0.00021
NM_020458.4(TTC7A):c.843+10G>A rs369535348 0.00019
NM_020458.4(TTC7A):c.185-14A>G rs370585197 0.00015
NM_020458.4(TTC7A):c.1392+9G>T rs368491762 0.00013
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.1224G>A (p.Lys408=) rs761745008 0.00011
NM_020458.4(TTC7A):c.1288-7T>C rs967109047 0.00011
NM_020458.4(TTC7A):c.1392+17G>A rs371584761 0.00011
NM_020458.4(TTC7A):c.1919+10C>T rs201704252 0.00011
NM_020458.4(TTC7A):c.2015C>T (p.Ser672Phe) rs143184428 0.00011
NM_020458.4(TTC7A):c.2091G>A (p.Ser697=) rs756068587 0.00011
NM_020458.4(TTC7A):c.1365G>A (p.Ala455=) rs372929050 0.00010
NM_020458.4(TTC7A):c.1093G>A (p.Val365Met) rs202176990 0.00009
NM_020458.4(TTC7A):c.1510+10A>G rs769710597 0.00009
NM_020458.4(TTC7A):c.1570G>T (p.Ala524Ser) rs201008860 0.00009
NM_020458.4(TTC7A):c.2444C>T (p.Ala815Val) rs748142531 0.00007
NM_020458.4(TTC7A):c.1803-11C>T rs779327982 0.00006
NM_020458.4(TTC7A):c.2017+9G>A rs370376585 0.00006
NM_020458.4(TTC7A):c.2433G>A (p.Thr811=) rs549236013 0.00006
NM_020458.4(TTC7A):c.2439C>T (p.His813=) rs145740358 0.00006
NM_020458.4(TTC7A):c.2514C>T (p.Thr838=) rs200826158 0.00006
NM_020458.4(TTC7A):c.432C>T (p.Tyr144=) rs767549499 0.00006
NM_020458.4(TTC7A):c.453C>T (p.Asp151=) rs201840479 0.00006
NM_020458.4(TTC7A):c.462G>A (p.Met154Ile) rs148261355 0.00006
NM_020458.4(TTC7A):c.1560G>A (p.Thr520=) rs372796290 0.00005
NM_020458.4(TTC7A):c.2550C>T (p.Pro850=) rs780449127 0.00005
NM_020458.4(TTC7A):c.517+14C>G rs770037054 0.00005
NM_020458.4(TTC7A):c.1164C>T (p.Ile388=) rs369262649 0.00004
NM_020458.4(TTC7A):c.1446C>T (p.Ala482=) rs955968971 0.00004
NM_020458.4(TTC7A):c.1518G>A (p.Leu506=) rs759226270 0.00004
NM_020458.4(TTC7A):c.1603A>T (p.Ile535Phe) rs749071692 0.00004
NM_020458.4(TTC7A):c.1887G>A (p.Leu629=) rs771835099 0.00004
NM_020458.4(TTC7A):c.1944C>T (p.Phe648=) rs200604937 0.00004
NM_020458.4(TTC7A):c.2153-14T>C rs371981287 0.00004
NM_020458.4(TTC7A):c.2214G>A (p.Ala738=) rs369839639 0.00004
NM_020458.4(TTC7A):c.2355+19C>T rs762272685 0.00004
NM_020458.4(TTC7A):c.2356-8G>A rs376434109 0.00004
NM_020458.4(TTC7A):c.2415C>T (p.Ala805=) rs771372965 0.00004
NM_020458.4(TTC7A):c.349-12T>C rs370771002 0.00004
NM_020458.4(TTC7A):c.408A>G (p.Ser136=) rs772523623 0.00004
NM_020458.4(TTC7A):c.693G>A (p.Pro231=) rs542007144 0.00004
NM_020458.4(TTC7A):c.771C>T (p.Ile257=) rs755109997 0.00004
NM_020458.4(TTC7A):c.1203+9G>A rs201020082 0.00003
NM_020458.4(TTC7A):c.1344C>T (p.Pro448=) rs754482689 0.00003
NM_020458.4(TTC7A):c.1347C>T (p.Thr449=) rs374960733 0.00003
NM_020458.4(TTC7A):c.1569-4A>G rs981435309 0.00003
NM_020458.4(TTC7A):c.1642-16C>T rs375063813 0.00003
NM_020458.4(TTC7A):c.1917G>T (p.Leu639=) rs763222341 0.00003
NM_020458.4(TTC7A):c.2017+8C>T rs367595962 0.00003
NM_020458.4(TTC7A):c.2241A>G (p.Val747=) rs752874925 0.00003
NM_020458.4(TTC7A):c.2356-9C>T rs373276280 0.00003
NM_020458.4(TTC7A):c.765-14C>T rs767354746 0.00003
NM_020458.4(TTC7A):c.844-7C>G rs765541604 0.00003
NM_020458.4(TTC7A):c.969C>G (p.Ala323=) rs139339890 0.00003
NM_020458.4(TTC7A):c.1001+12C>T rs746964282 0.00002
NM_020458.4(TTC7A):c.1002-16C>T rs772273957 0.00002
NM_020458.4(TTC7A):c.1056C>T (p.Ser352=) rs887426063 0.00002
NM_020458.4(TTC7A):c.1098G>A (p.Pro366=) rs368215180 0.00002
NM_020458.4(TTC7A):c.1209G>A (p.Leu403=) rs371480526 0.00002
NM_020458.4(TTC7A):c.1455C>T (p.Phe485=) rs747356513 0.00002
NM_020458.4(TTC7A):c.1506C>T (p.Thr502=) rs534000380 0.00002
NM_020458.4(TTC7A):c.1584G>A (p.Ala528=) rs761294322 0.00002
NM_020458.4(TTC7A):c.1701C>T (p.His567=) rs375117959 0.00002
NM_020458.4(TTC7A):c.1803-12C>A rs768399184 0.00002
NM_020458.4(TTC7A):c.2153-10G>C rs375320678 0.00002
NM_020458.4(TTC7A):c.2153-12C>G rs750558169 0.00002
NM_020458.4(TTC7A):c.2256C>T (p.Gly752=) rs1401751108 0.00002
NM_020458.4(TTC7A):c.2355+13C>A rs376777040 0.00002
NM_020458.4(TTC7A):c.291G>A (p.Pro97=) rs768316317 0.00002
NM_020458.4(TTC7A):c.348+17C>T rs747141396 0.00002
NM_020458.4(TTC7A):c.348+9T>C rs368365011 0.00002
NM_020458.4(TTC7A):c.349-8C>T rs374828712 0.00002
NM_020458.4(TTC7A):c.849G>A (p.Ala283=) rs763190482 0.00002
NM_020458.4(TTC7A):c.1001+9T>C rs1675962842 0.00001
NM_020458.4(TTC7A):c.1188C>T (p.Tyr396=) rs749892467 0.00001
NM_020458.4(TTC7A):c.1200G>A (p.Ser400=) rs762949675 0.00001
NM_020458.4(TTC7A):c.1230G>A (p.Ala410=) rs370371832 0.00001
NM_020458.4(TTC7A):c.1287+9C>T rs1677447803 0.00001
NM_020458.4(TTC7A):c.1296C>T (p.Tyr432=) rs746938326 0.00001
NM_020458.4(TTC7A):c.1335C>T (p.Pro445=) rs1678029487 0.00001
NM_020458.4(TTC7A):c.1338G>A (p.Ser446=) rs768056090 0.00001
NM_020458.4(TTC7A):c.1362C>T (p.Ala454=) rs1351341629 0.00001
NM_020458.4(TTC7A):c.1511-8C>G rs746661224 0.00001
NM_020458.4(TTC7A):c.1614C>T (p.Val538=) rs200124779 0.00001
NM_020458.4(TTC7A):c.1641+11C>T rs773220247 0.00001
NM_020458.4(TTC7A):c.1689G>A (p.Lys563=) rs770191427 0.00001
NM_020458.4(TTC7A):c.1746C>T (p.His582=) rs1190370481 0.00001
NM_020458.4(TTC7A):c.1782C>T (p.Thr594=) rs780233999 0.00001
NM_020458.4(TTC7A):c.1824G>A (p.Lys608=) rs547770140 0.00001
NM_020458.4(TTC7A):c.1839G>A (p.Leu613=) rs1410698111 0.00001
NM_020458.4(TTC7A):c.1866C>A (p.Thr622=) rs746346812 0.00001
NM_020458.4(TTC7A):c.1920-4C>G rs376383856 0.00001
NM_020458.4(TTC7A):c.1953C>T (p.Gly651=) rs1682709750 0.00001
NM_020458.4(TTC7A):c.1956C>T (p.Leu652=) rs1482937341 0.00001
NM_020458.4(TTC7A):c.2097G>C (p.Leu699=) rs746097698 0.00001
NM_020458.4(TTC7A):c.2109C>T (p.Pro703=) rs144816809 0.00001
NM_020458.4(TTC7A):c.2187A>G (p.Glu729=) rs374828304 0.00001
NM_020458.4(TTC7A):c.2193T>C (p.Gly731=) rs748964105 0.00001
NM_020458.4(TTC7A):c.2244C>G (p.Leu748=) rs1306445913 0.00001
NM_020458.4(TTC7A):c.2388C>T (p.Ser796=) rs370786690 0.00001
NM_020458.4(TTC7A):c.246T>C (p.His82=) rs368496761 0.00001
NM_020458.4(TTC7A):c.2517C>T (p.Ala839=) rs751895973 0.00001
NM_020458.4(TTC7A):c.2545C>T (p.Leu849=) rs746188502 0.00001
NM_020458.4(TTC7A):c.396C>T (p.Tyr132=) rs780299149 0.00001
NM_020458.4(TTC7A):c.441C>T (p.Ala147=) rs1023666481 0.00001
NM_020458.4(TTC7A):c.450T>C (p.Asp150=) rs748520590 0.00001
NM_020458.4(TTC7A):c.483G>A (p.Gln161=) rs528257900 0.00001
NM_020458.4(TTC7A):c.490C>T (p.Leu164=) rs149634302 0.00001
NM_020458.4(TTC7A):c.649-11T>C rs763466675 0.00001
NM_020458.4(TTC7A):c.649-4C>T rs1467377884 0.00001
NM_020458.4(TTC7A):c.669G>A (p.Ser223=) rs777759191 0.00001
NM_020458.4(TTC7A):c.708C>T (p.Leu236=) rs774899455 0.00001
NM_020458.4(TTC7A):c.764+16T>C rs957545781 0.00001
NM_020458.4(TTC7A):c.843+13G>A rs753160406 0.00001
NM_020458.4(TTC7A):c.843+19A>G rs202113510 0.00001
NM_020458.4(TTC7A):c.844-7C>T rs765541604 0.00001
NM_020458.4(TTC7A):c.864G>A (p.Ala288=) rs1413098454 0.00001
NM_020458.4(TTC7A):c.957C>T (p.Phe319=) rs750924480 0.00001
NM_020458.4(TTC7A):c.984C>T (p.His328=) rs1226296178 0.00001
NM_020458.4(TTC7A):c.1001+14G>T
NM_020458.4(TTC7A):c.1001+15C>A
NM_020458.4(TTC7A):c.1001+16C>T
NM_020458.4(TTC7A):c.1001+20C>G
NM_020458.4(TTC7A):c.1001+20C>T
NM_020458.4(TTC7A):c.1002-11G>C
NM_020458.4(TTC7A):c.1038C>G (p.Leu346=) rs1676052601
NM_020458.4(TTC7A):c.1038C>T (p.Leu346=)
NM_020458.4(TTC7A):c.1066-18_1066-15del rs781771977
NM_020458.4(TTC7A):c.1074A>C (p.Arg358=) rs777671248
NM_020458.4(TTC7A):c.1140A>G (p.Ala380=) rs2104453333
NM_020458.4(TTC7A):c.1158G>C (p.Leu386=) rs749815879
NM_020458.4(TTC7A):c.1167G>A (p.Thr389=) rs201028512
NM_020458.4(TTC7A):c.1203+10G>T
NM_020458.4(TTC7A):c.1203+17_1203+23del
NM_020458.4(TTC7A):c.1203+8C>G
NM_020458.4(TTC7A):c.1204-15A>G
NM_020458.4(TTC7A):c.1204-4C>T
NM_020458.4(TTC7A):c.1204-6C>G
NM_020458.4(TTC7A):c.1212G>A (p.Glu404=)
NM_020458.4(TTC7A):c.1266C>A (p.Leu422=) rs765529675
NM_020458.4(TTC7A):c.1287+10A>T
NM_020458.4(TTC7A):c.1287+17G>A
NM_020458.4(TTC7A):c.1288-13T>C
NM_020458.4(TTC7A):c.1288-19C>T
NM_020458.4(TTC7A):c.1288-20C>G
NM_020458.4(TTC7A):c.1288-20C>T
NM_020458.4(TTC7A):c.1288-4G>A
NM_020458.4(TTC7A):c.1293C>T (p.Ala431=)
NM_020458.4(TTC7A):c.1383C>A (p.Ser461=)
NM_020458.4(TTC7A):c.1392+16G>C
NM_020458.4(TTC7A):c.1392+7G>A
NM_020458.4(TTC7A):c.1392+7G>C
NM_020458.4(TTC7A):c.1393-10C>T
NM_020458.4(TTC7A):c.1393-10_1393-8del
NM_020458.4(TTC7A):c.1393-13C>G
NM_020458.4(TTC7A):c.1393-16TC[2]
NM_020458.4(TTC7A):c.1393-17G>T
NM_020458.4(TTC7A):c.1393-4G>A
NM_020458.4(TTC7A):c.1407G>A (p.Glu469=)
NM_020458.4(TTC7A):c.1425G>T (p.Val475=) rs1679327755
NM_020458.4(TTC7A):c.1434C>A (p.Leu478=) rs113261858
NM_020458.4(TTC7A):c.1434C>T (p.Leu478=)
NM_020458.4(TTC7A):c.1476T>C (p.Ala492=) rs2104548670
NM_020458.4(TTC7A):c.1485C>T (p.Leu495=)
NM_020458.4(TTC7A):c.1497G>T (p.Leu499=)
NM_020458.4(TTC7A):c.1510+100_1510+108del
NM_020458.4(TTC7A):c.1510+20A>G
NM_020458.4(TTC7A):c.1511-15T>A
NM_020458.4(TTC7A):c.1511-18C>G
NM_020458.4(TTC7A):c.1511-8C>A
NM_020458.4(TTC7A):c.1511-9C>G rs200911031
NM_020458.4(TTC7A):c.1511-9C>T rs200911031
NM_020458.4(TTC7A):c.1512C>G (p.Ala504=) rs911985240
NM_020458.4(TTC7A):c.1516C>T (p.Leu506=)
NM_020458.4(TTC7A):c.1551A>G (p.Ala517=) rs2104557169
NM_020458.4(TTC7A):c.1568+19G>A
NM_020458.4(TTC7A):c.1568+19G>T
NM_020458.4(TTC7A):c.1568+9G>A rs938180083
NM_020458.4(TTC7A):c.1569-14C>G
NM_020458.4(TTC7A):c.1569-7C>G rs368266789
NM_020458.4(TTC7A):c.1587C>T (p.Pro529=)
NM_020458.4(TTC7A):c.1605C>T (p.Ile535=)
NM_020458.4(TTC7A):c.1632C>G (p.Leu544=)
NM_020458.4(TTC7A):c.1635C>T (p.Val545=)
NM_020458.4(TTC7A):c.1641+12G>A rs11885389
NM_020458.4(TTC7A):c.1641+8G>T
NM_020458.4(TTC7A):c.1642-10C>T rs759243328
NM_020458.4(TTC7A):c.1642-11T>C
NM_020458.4(TTC7A):c.1642-15G>A
NM_020458.4(TTC7A):c.1644C>T (p.Ile548=) rs969064006
NM_020458.4(TTC7A):c.1653C>G (p.Ala551=)
NM_020458.4(TTC7A):c.1656G>C (p.Met552Ile)
NM_020458.4(TTC7A):c.1662G>A (p.Gln554=)
NM_020458.4(TTC7A):c.1663C>T (p.Leu555=)
NM_020458.4(TTC7A):c.1713G>C (p.Leu571=)
NM_020458.4(TTC7A):c.1758G>A (p.Leu586=)
NM_020458.4(TTC7A):c.1758G>C (p.Leu586=)
NM_020458.4(TTC7A):c.1802+13G>A
NM_020458.4(TTC7A):c.1802+17C>T
NM_020458.4(TTC7A):c.1802+20T>C
NM_020458.4(TTC7A):c.1802+9C>T
NM_020458.4(TTC7A):c.1803-10G>C rs111758559
NM_020458.4(TTC7A):c.1803-17A>G
NM_020458.4(TTC7A):c.1804C>T (p.Leu602=) rs2104701737
NM_020458.4(TTC7A):c.1806G>A (p.Leu602=)
NM_020458.4(TTC7A):c.1836G>A (p.Val612=) rs1319104023
NM_020458.4(TTC7A):c.1842A>G (p.Lys614=)
NM_020458.4(TTC7A):c.185-10T>G
NM_020458.4(TTC7A):c.185-13C>T
NM_020458.4(TTC7A):c.185-20A>G
NM_020458.4(TTC7A):c.1857C>T (p.Ala619=)
NM_020458.4(TTC7A):c.1863G>T (p.Val621=)
NM_020458.4(TTC7A):c.1866C>G (p.Thr622=) rs746346812
NM_020458.4(TTC7A):c.1881G>A (p.Leu627=) rs2104702306
NM_020458.4(TTC7A):c.1899G>A (p.Leu633=)
NM_020458.4(TTC7A):c.1919+11G>A rs149412946
NM_020458.4(TTC7A):c.1919+13C>T
NM_020458.4(TTC7A):c.1919+14A>G
NM_020458.4(TTC7A):c.1919+17G>T
NM_020458.4(TTC7A):c.1920-19G>A
NM_020458.4(TTC7A):c.1926A>C (p.Leu642=) rs201897539
NM_020458.4(TTC7A):c.1959C>A (p.Thr653=) rs1032466747
NM_020458.4(TTC7A):c.2007T>C (p.Asp669=)
NM_020458.4(TTC7A):c.2017+15del
NM_020458.4(TTC7A):c.2017+17T>C rs984862096
NM_020458.4(TTC7A):c.2017+19G>A
NM_020458.4(TTC7A):c.2017+20G>A
NM_020458.4(TTC7A):c.2018-19G>A
NM_020458.4(TTC7A):c.2018-20C>T
NM_020458.4(TTC7A):c.2018-6C>T
NM_020458.4(TTC7A):c.202C>T (p.Leu68=) rs923640720
NM_020458.4(TTC7A):c.2040C>T (p.Ile680=)
NM_020458.4(TTC7A):c.204G>C (p.Leu68=)
NM_020458.4(TTC7A):c.2052G>C (p.Arg684=)
NM_020458.4(TTC7A):c.2076G>C (p.Leu692=) rs1406561730
NM_020458.4(TTC7A):c.2091G>C (p.Ser697=)
NM_020458.4(TTC7A):c.2106C>T (p.Gly702=) rs2104732976
NM_020458.4(TTC7A):c.2152+15C>G
NM_020458.4(TTC7A):c.2152+19G>A
NM_020458.4(TTC7A):c.2152+7G>A rs1438887727
NM_020458.4(TTC7A):c.2152+8C>G rs570803123
NM_020458.4(TTC7A):c.2153-9C>A rs760701452
NM_020458.4(TTC7A):c.2160G>A (p.Leu720=)
NM_020458.4(TTC7A):c.2178C>T (p.His726=)
NM_020458.4(TTC7A):c.2199C>T (p.Cys733=)
NM_020458.4(TTC7A):c.2214G>T (p.Ala738=)
NM_020458.4(TTC7A):c.2223C>T (p.Phe741=)
NM_020458.4(TTC7A):c.2229T>C (p.Thr743=)
NM_020458.4(TTC7A):c.2260C>T (p.Leu754=)
NM_020458.4(TTC7A):c.2274G>A (p.Lys758=)
NM_020458.4(TTC7A):c.2334C>T (p.Gly778=)
NM_020458.4(TTC7A):c.2355+12C>T
NM_020458.4(TTC7A):c.2355+15C>T rs2104780015
NM_020458.4(TTC7A):c.2355+16C>T
NM_020458.4(TTC7A):c.2355+17C>G rs775545154
NM_020458.4(TTC7A):c.2355+17C>T
NM_020458.4(TTC7A):c.2355+18G>A
NM_020458.4(TTC7A):c.2355+18_2355+19delinsTT rs2104780079
NM_020458.4(TTC7A):c.2355+7C>T
NM_020458.4(TTC7A):c.2365C>T (p.Leu789=)
NM_020458.4(TTC7A):c.2376G>A (p.Leu792=) rs2103674376
NM_020458.4(TTC7A):c.2409T>G (p.Arg803=) rs2103674939
NM_020458.4(TTC7A):c.2412T>C (p.Asp804=)
NM_020458.4(TTC7A):c.2415C>G (p.Ala805=) rs771372965
NM_020458.4(TTC7A):c.2455C>T (p.Leu819=)
NM_020458.4(TTC7A):c.2466G>C (p.Val822=) rs2103675905
NM_020458.4(TTC7A):c.2467C>T (p.Leu823=)
NM_020458.4(TTC7A):c.2505C>T (p.Cys835=) rs1553418566
NM_020458.4(TTC7A):c.2541T>C (p.Pro847=)
NM_020458.4(TTC7A):c.2547G>T (p.Leu849=) rs770156094
NM_020458.4(TTC7A):c.2553C>T (p.Phe851=)
NM_020458.4(TTC7A):c.2559C>T (p.Ile853=) rs368008956
NM_020458.4(TTC7A):c.2562C>A (p.Ile854=) rs1201272520
NM_020458.4(TTC7A):c.2565C>G (p.Pro855=)
NM_020458.4(TTC7A):c.2574C>T (p.Leu858=) rs2103677768
NM_020458.4(TTC7A):c.2576G>A (p.Ter859=)
NM_020458.4(TTC7A):c.264C>T (p.Ser88=) rs2103966391
NM_020458.4(TTC7A):c.303A>G (p.Glu101=) rs1290444100
NM_020458.4(TTC7A):c.315T>C (p.Tyr105=) rs2103966961
NM_020458.4(TTC7A):c.339G>A (p.Gly113=)
NM_020458.4(TTC7A):c.348+16_348+23del
NM_020458.4(TTC7A):c.348+7C>A rs553269542
NM_020458.4(TTC7A):c.348+7C>T rs553269542
NM_020458.4(TTC7A):c.348+7_348+8delinsGT rs2103967369
NM_020458.4(TTC7A):c.348+8G>A rs574898082
NM_020458.4(TTC7A):c.349-5T>A
NM_020458.4(TTC7A):c.349-8C>G rs374828712
NM_020458.4(TTC7A):c.375G>C (p.Leu125=)
NM_020458.4(TTC7A):c.390G>A (p.Leu130=)
NM_020458.4(TTC7A):c.465G>A (p.Glu155=)
NM_020458.4(TTC7A):c.477G>A (p.Leu159=)
NM_020458.4(TTC7A):c.498G>A (p.Ser166=)
NM_020458.4(TTC7A):c.517+11G>T
NM_020458.4(TTC7A):c.517+8T>G rs781762867
NM_020458.4(TTC7A):c.666G>C (p.Thr222=) rs374954171
NM_020458.4(TTC7A):c.666G>T (p.Thr222=) rs374954171
NM_020458.4(TTC7A):c.669G>C (p.Ser223=) rs777759191
NM_020458.4(TTC7A):c.729C>G (p.Ala243=) rs759278466
NM_020458.4(TTC7A):c.764+10T>C
NM_020458.4(TTC7A):c.764+11_764+12delinsCT
NM_020458.4(TTC7A):c.764+7C>T
NM_020458.4(TTC7A):c.764+9C>G rs1423132210
NM_020458.4(TTC7A):c.765-10C>T
NM_020458.4(TTC7A):c.765-13G>A
NM_020458.4(TTC7A):c.765-14C>G
NM_020458.4(TTC7A):c.765-5A>G
NM_020458.4(TTC7A):c.765-6C>T rs2104381156
NM_020458.4(TTC7A):c.828T>G (p.Thr276=)
NM_020458.4(TTC7A):c.843+15T>C
NM_020458.4(TTC7A):c.843+20G>A
NM_020458.4(TTC7A):c.849G>C (p.Ala283=)
NM_020458.4(TTC7A):c.873G>T (p.Leu291=) rs113997845
NM_020458.4(TTC7A):c.882C>T (p.Ser294=) rs1572846942
NM_020458.4(TTC7A):c.883C>T (p.Leu295=)
NM_020458.4(TTC7A):c.894G>A (p.Glu298=)
NM_020458.4(TTC7A):c.900C>T (p.Tyr300=)
NM_020458.4(TTC7A):c.990T>C (p.Tyr330=) rs2104387716
NM_020458.4(TTC7A):c.996A>C (p.Gly332=)

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