ClinVar Miner

List of variants in gene combination LOC101927055, TTN reported as uncertain significance

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Total variants: 185
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp) rs36021856 0.01079
NM_001267550.2(TTN):c.4199G>C (p.Ser1400Thr) rs138506461 0.00219
NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile) rs139192633 0.00097
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu) rs151310601 0.00089
NM_001267550.2(TTN):c.4208G>C (p.Arg1403Thr) rs531590921 0.00029
NM_001267550.2(TTN):c.4359A>T (p.Arg1453Ser) rs376857956 0.00028
NM_001267550.2(TTN):c.4262G>A (p.Arg1421Gln) rs147254212 0.00027
NM_001267550.2(TTN):c.4291C>T (p.Arg1431Trp) rs139636676 0.00016
NM_001267550.2(TTN):c.3835A>T (p.Met1279Leu) rs374497665 0.00014
NM_001267550.2(TTN):c.4160T>C (p.Leu1387Pro) rs115303497 0.00012
NM_001267550.2(TTN):c.3940A>G (p.Met1314Val) rs764249439 0.00011
NM_001267550.2(TTN):c.4261C>T (p.Arg1421Trp) rs144672482 0.00011
NM_001267550.2(TTN):c.4668G>A (p.Pro1556=) rs145709534 0.00011
NM_001267550.2(TTN):c.3864T>G (p.Ala1288=) rs368702156 0.00010
NM_001267550.2(TTN):c.4150G>T (p.Ala1384Ser) rs144609506 0.00010
NM_001267550.2(TTN):c.4228G>C (p.Val1410Leu) rs576593161 0.00010
NM_001267550.2(TTN):c.3813T>C (p.Leu1271=) rs773274762 0.00008
NM_001267550.2(TTN):c.4081A>C (p.Ile1361Leu) rs145308734 0.00007
NM_001267550.2(TTN):c.4049G>A (p.Arg1350His) rs539470256 0.00006
NM_001267550.2(TTN):c.4247G>A (p.Arg1416His) rs750278602 0.00006
NM_001267550.2(TTN):c.4462A>G (p.Thr1488Ala) rs146732280 0.00006
NM_001267550.2(TTN):c.4709G>C (p.Gly1570Ala) rs199910114 0.00006
NM_001267550.2(TTN):c.4153G>A (p.Ala1385Thr) rs140760859 0.00005
NM_001267550.2(TTN):c.4321C>T (p.Arg1441Cys) rs146241078 0.00005
NM_001267550.2(TTN):c.4087A>G (p.Thr1363Ala) rs768249663 0.00004
NM_001267550.2(TTN):c.4274C>T (p.Ala1425Val) rs746063269 0.00004
NM_001267550.2(TTN):c.4284T>A (p.Ser1428=) rs771454835 0.00004
NM_001267550.2(TTN):c.4646-7C>A rs758516007 0.00004
NM_001267550.2(TTN):c.3847A>G (p.Ile1283Val) rs1391955404 0.00003
NM_001267550.2(TTN):c.3913G>T (p.Gly1305Trp) rs199889888 0.00003
NM_001267550.2(TTN):c.4373T>G (p.Val1458Gly) rs1164246536 0.00003
NM_001267550.2(TTN):c.4532G>A (p.Gly1511Asp) rs751606948 0.00003
NM_001267550.2(TTN):c.4552G>A (p.Val1518Ile) rs755962102 0.00003
NM_001267550.2(TTN):c.4650G>A (p.Val1550=) rs915170239 0.00003
NM_001267550.2(TTN):c.3899A>G (p.Tyr1300Cys) rs188090472 0.00002
NM_001267550.2(TTN):c.3988C>T (p.Arg1330Cys) rs771294359 0.00002
NM_001267550.2(TTN):c.3989G>A (p.Arg1330His) rs761402128 0.00002
NM_001267550.2(TTN):c.4072G>T (p.Asp1358Tyr) rs373988162 0.00002
NM_001267550.2(TTN):c.4337C>A (p.Thr1446Lys) rs879232192 0.00002
NM_001267550.2(TTN):c.4362A>G (p.Leu1454=) rs794727406 0.00002
NM_001267550.2(TTN):c.4639G>A (p.Val1547Met) rs750678272 0.00002
NM_001267550.2(TTN):c.4889C>T (p.Ala1630Val) rs371601918 0.00002
NM_001267550.2(TTN):c.3737A>T (p.His1246Leu) rs201988645 0.00001
NM_001267550.2(TTN):c.3785T>C (p.Ile1262Thr) rs752505720 0.00001
NM_001267550.2(TTN):c.3819A>C (p.Glu1273Asp) rs765443634 0.00001
NM_001267550.2(TTN):c.3868G>A (p.Glu1290Lys) rs748755381 0.00001
NM_001267550.2(TTN):c.4031A>G (p.Asp1344Gly) rs1203373476 0.00001
NM_001267550.2(TTN):c.4042A>G (p.Ser1348Gly) rs397517591 0.00001
NM_001267550.2(TTN):c.4076A>G (p.Glu1359Gly) rs370978752 0.00001
NM_001267550.2(TTN):c.4098C>T (p.Ala1366=) rs760223250 0.00001
NM_001267550.2(TTN):c.4101C>A (p.Ser1367Arg) rs1307238681 0.00001
NM_001267550.2(TTN):c.4108A>G (p.Lys1370Glu) rs1453568535 0.00001
NM_001267550.2(TTN):c.4117G>A (p.Ala1373Thr) rs867802403 0.00001
NM_001267550.2(TTN):c.4147C>G (p.Pro1383Ala) rs377658313 0.00001
NM_001267550.2(TTN):c.4169C>T (p.Pro1390Leu) rs144011561 0.00001
NM_001267550.2(TTN):c.4238C>G (p.Ser1413Cys) rs886042744 0.00001
NM_001267550.2(TTN):c.4292G>A (p.Arg1431Gln) rs373690688 0.00001
NM_001267550.2(TTN):c.4309A>G (p.Met1437Val) rs758098952 0.00001
NM_001267550.2(TTN):c.4310T>A (p.Met1437Lys) rs1018666766 0.00001
NM_001267550.2(TTN):c.4442T>C (p.Val1481Ala) rs1252349535 0.00001
NM_001267550.2(TTN):c.4453A>G (p.Met1485Val) rs753632784 0.00001
NM_001267550.2(TTN):c.4480G>A (p.Gly1494Ser) rs774506028 0.00001
NM_001267550.2(TTN):c.4558G>A (p.Ala1520Thr) rs1060500440 0.00001
NM_001267550.2(TTN):c.4612A>G (p.Arg1538Gly) rs766463184 0.00001
NM_001267550.2(TTN):c.4641G>T (p.Val1547=) rs1012929202 0.00001
NM_001267550.2(TTN):c.4649T>C (p.Val1550Ala) rs765557850 0.00001
NM_001267550.2(TTN):c.4700T>C (p.Ile1567Thr) rs145957227 0.00001
NM_001267550.2(TTN):c.4784T>G (p.Ile1595Ser) rs1012905833 0.00001
NM_001267550.2(TTN):c.4837G>A (p.Ala1613Thr) rs757349504 0.00001
NM_001267550.2(TTN):c.4874C>G (p.Ser1625Cys) rs185789611 0.00001
NM_001267550.2(TTN):c.4894G>A (p.Ala1632Thr) rs1250136125 0.00001
NM_001267550.2(TTN):c.4903A>G (p.Lys1635Glu) rs776274777 0.00001
NM_001267550.2(TTN):c.3730-5C>T rs1574709001
NM_001267550.2(TTN):c.3736C>A (p.His1246Asn) rs1554012975
NM_001267550.2(TTN):c.3742_3745del (p.Ser1248fs) rs2154347788
NM_001267550.2(TTN):c.3817G>T (p.Glu1273Ter) rs2154347744
NM_001267550.2(TTN):c.3822T>G (p.Asp1274Glu)
NM_001267550.2(TTN):c.3829G>T (p.Glu1277Ter)
NM_001267550.2(TTN):c.3831_3835del (p.Glu1277fs) rs1060500558
NM_001267550.2(TTN):c.3838del (p.Ala1280fs)
NM_001267550.2(TTN):c.3854A>T (p.Glu1285Val) rs1554012705
NM_001267550.2(TTN):c.3864del (p.Val1289fs) rs2154347714
NM_001267550.2(TTN):c.3874G>T (p.Gly1292Ter) rs886042433
NM_001267550.2(TTN):c.3887G>A (p.Arg1296Lys)
NM_001267550.2(TTN):c.3926C>T (p.Thr1309Ile)
NM_001267550.2(TTN):c.3934T>C (p.Cys1312Arg)
NM_001267550.2(TTN):c.3942G>A (p.Met1314Ile)
NM_001267550.2(TTN):c.3955T>A (p.Leu1319Ile)
NM_001267550.2(TTN):c.3963+1G>T rs1561325112
NM_001267550.2(TTN):c.3963+3A>G rs2092547968
NM_001267550.2(TTN):c.3963+4A>G rs2154347664
NM_001267550.2(TTN):c.3968C>T (p.Ala1323Val) rs774954394
NM_001267550.2(TTN):c.3972G>A (p.Trp1324Ter) rs1561323791
NM_001267550.2(TTN):c.3972G>C (p.Trp1324Cys)
NM_001267550.2(TTN):c.4008del (p.Arg1336fs)
NM_001267550.2(TTN):c.4017G>C (p.Met1339Ile) rs1561323191
NM_001267550.2(TTN):c.4019A>G (p.Asp1340Gly)
NM_001267550.2(TTN):c.4027C>T (p.Gln1343Ter) rs727503697
NM_001267550.2(TTN):c.4040C>G (p.Ala1347Gly) rs1561322862
NM_001267550.2(TTN):c.4057G>C (p.Val1353Leu)
NM_001267550.2(TTN):c.4057GTT[1] (p.Val1354del) rs878854304
NM_001267550.2(TTN):c.4066C>T (p.Pro1356Ser) rs2154347555
NM_001267550.2(TTN):c.4081A>G (p.Ile1361Val) rs145308734
NM_001267550.2(TTN):c.4085A>G (p.Tyr1362Cys) rs965997128
NM_001267550.2(TTN):c.4090G>A (p.Ala1364Thr)
NM_001267550.2(TTN):c.4092_4097del (p.Phe1365_Ala1366del)
NM_001267550.2(TTN):c.4102A>C (p.Asn1368His) rs1377114122
NM_001267550.2(TTN):c.4118C>T (p.Ala1373Val)
NM_001267550.2(TTN):c.4126T>C (p.Ser1376Pro) rs1060500425
NM_001267550.2(TTN):c.4130G>A (p.Gly1377Glu) rs794729573
NM_001267550.2(TTN):c.4135T>G (p.Leu1379Val)
NM_001267550.2(TTN):c.4136T>C (p.Leu1379Ser)
NM_001267550.2(TTN):c.4150G>A (p.Ala1384Thr) rs144609506
NM_001267550.2(TTN):c.4153G>C (p.Ala1385Pro) rs140760859
NM_001267550.2(TTN):c.4195G>T (p.Val1399Leu) rs1554011657
NM_001267550.2(TTN):c.4206C>T (p.Ile1402=) rs1554011604
NM_001267550.2(TTN):c.4208G>A (p.Arg1403Lys)
NM_001267550.2(TTN):c.4216_4219del (p.Ser1406fs) rs2154346896
NM_001267550.2(TTN):c.4218_4219del (p.Pro1407fs)
NM_001267550.2(TTN):c.4220C>A (p.Pro1407Gln)
NM_001267550.2(TTN):c.4222C>T (p.Arg1408Cys)
NM_001267550.2(TTN):c.4227A>G (p.Ser1409=) rs2154346890
NM_001267550.2(TTN):c.4247G>C (p.Arg1416Pro) rs750278602
NM_001267550.2(TTN):c.4254_4268dup (p.Pro1439_Gly1440insAlaArgMetSerPro)
NM_001267550.2(TTN):c.4269_4298del (p.1420ARMSP[2]) rs727503696
NM_001267550.2(TTN):c.4270C>T (p.Pro1424Ser) rs772479207
NM_001267550.2(TTN):c.4276_4290del (p.1420ARMSP[3])
NM_001267550.2(TTN):c.4283C>T (p.Ser1428Phe)
NM_001267550.2(TTN):c.4284_4298dup (p.Pro1439_Gly1440insAlaArgMetSerPro)
NM_001267550.2(TTN):c.4289C>A (p.Ala1430Glu) rs577298130
NM_001267550.2(TTN):c.4300C>T (p.Pro1434Ser)
NM_001267550.2(TTN):c.4301del (p.Pro1434fs)
NM_001267550.2(TTN):c.4302T>C (p.Pro1434=) rs1561310756
NM_001267550.2(TTN):c.4319G>T (p.Gly1440Val) rs150579194
NM_001267550.2(TTN):c.4322G>A (p.Arg1441His) rs72647876
NM_001267550.2(TTN):c.4330G>T (p.Glu1444Ter)
NM_001267550.2(TTN):c.4330del (p.Glu1444fs)
NM_001267550.2(TTN):c.4378G>A (p.Val1460Met)
NM_001267550.2(TTN):c.4385_4386delinsG (p.Lys1462fs) rs2092387027
NM_001267550.2(TTN):c.4413del (p.Gln1472fs) rs2092384255
NM_001267550.2(TTN):c.4426T>C (p.Phe1476Leu) rs2092383287
NM_001267550.2(TTN):c.4440T>G (p.Val1480=)
NM_001267550.2(TTN):c.4441G>A (p.Val1481Ile) rs794729574
NM_001267550.2(TTN):c.4451C>T (p.Pro1484Leu)
NM_001267550.2(TTN):c.4475A>T (p.His1492Leu)
NM_001267550.2(TTN):c.4480+1G>A rs766581255
NM_001267550.2(TTN):c.4480+1G>T rs766581255
NM_001267550.2(TTN):c.4480G>T (p.Gly1494Cys)
NM_001267550.2(TTN):c.4487_4488insT (p.Gln1496fs) rs1554009454
NM_001267550.2(TTN):c.4498G>T (p.Asp1500Tyr) rs2092362997
NM_001267550.2(TTN):c.4506C>T (p.Thr1502=) rs185660585
NM_001267550.2(TTN):c.4526A>C (p.Glu1509Ala) rs794729575
NM_001267550.2(TTN):c.4531G>A (p.Gly1511Ser) rs1045727624
NM_001267550.2(TTN):c.4535C>T (p.Thr1512Ile)
NM_001267550.2(TTN):c.4537C>T (p.Gln1513Ter) rs2092360420
NM_001267550.2(TTN):c.4547T>C (p.Ile1516Thr)
NM_001267550.2(TTN):c.4551T>G (p.Ile1517Met)
NM_001267550.2(TTN):c.4556C>T (p.Pro1519Leu)
NM_001267550.2(TTN):c.4561A>C (p.Thr1521Pro) rs1574674545
NM_001267550.2(TTN):c.4592T>A (p.Val1531Asp) rs794727429
NM_001267550.2(TTN):c.4592_4596del (p.Val1531fs) rs1131691910
NM_001267550.2(TTN):c.4598A>G (p.Gln1533Arg)
NM_001267550.2(TTN):c.4621A>G (p.Ile1541Val) rs1060500580
NM_001267550.2(TTN):c.4642G>T (p.Glu1548Ter)
NM_001267550.2(TTN):c.4646-5T>A rs750400475
NM_001267550.2(TTN):c.4651G>A (p.Glu1551Lys) rs762008835
NM_001267550.2(TTN):c.4667C>T (p.Pro1556Leu)
NM_001267550.2(TTN):c.4679A>G (p.Glu1560Gly)
NM_001267550.2(TTN):c.4714C>T (p.Arg1572Ter) rs1554008881
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs) rs756433029
NM_001267550.2(TTN):c.4727A>C (p.Lys1576Thr) rs201686366
NM_001267550.2(TTN):c.4741G>A (p.Gly1581Ser)
NM_001267550.2(TTN):c.4748C>T (p.Pro1583Leu) rs2092326705
NM_001267550.2(TTN):c.4749_4754del (p.1582NP[1]) rs1242020329
NM_001267550.2(TTN):c.4766G>A (p.Trp1589Ter)
NM_001267550.2(TTN):c.4770G>C (p.Leu1590Phe)
NM_001267550.2(TTN):c.4811T>C (p.Ile1604Thr) rs2154346478
NM_001267550.2(TTN):c.4814+3A>C rs567197047
NM_001267550.2(TTN):c.4814+6T>C
NM_001267550.2(TTN):c.4821A>C (p.Glu1607Asp)
NM_001267550.2(TTN):c.4843C>T (p.Leu1615Phe)
NM_001267550.2(TTN):c.4852G>T (p.Asp1618Tyr) rs794727465
NM_001267550.2(TTN):c.4880G>A (p.Trp1627Ter) rs767755367
NM_001267550.2(TTN):c.4910del (p.Gly1637fs) rs886044013
NM_001267550.2(TTN):c.4921A>G (p.Thr1641Ala)

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