ClinVar Miner

List of variants in gene combination LOC101927055, TTN reported by Ambry Genetics

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Gene type:
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Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.3884C>T (p.Ser1295Leu) rs1552280 0.94745
NM_001267550.2(TTN):c.3759A>G (p.Arg1253=) rs2291308 0.04799
NM_001267550.2(TTN):c.4715G>A (p.Arg1572Gln) rs12476289 0.04792
NM_001267550.2(TTN):c.4177A>G (p.Ile1393Val) rs16866531 0.03468
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys) rs72647875 0.01559
NM_001267550.2(TTN):c.3993C>T (p.Ile1331=) rs55757622 0.01419
NM_001267550.2(TTN):c.4630A>G (p.Ile1544Val) rs72647877 0.01259
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp) rs36021856 0.01079
NM_001267550.2(TTN):c.4347A>G (p.Ser1449=) rs719202 0.01042
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met) rs73973147 0.00558
NM_001267550.2(TTN):c.4199G>C (p.Ser1400Thr) rs138506461 0.00219
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro) rs142317580 0.00188
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.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.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.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.4239T>G (p.Ser1413=) rs372187889 0.00004
NM_001267550.2(TTN):c.4284T>A (p.Ser1428=) rs771454835 0.00004
NM_001267550.2(TTN):c.4764A>G (p.Val1588=) rs1410819176 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.4650G>A (p.Val1550=) rs915170239 0.00003
NM_001267550.2(TTN):c.3777A>G (p.Glu1259=) rs755728462 0.00002
NM_001267550.2(TTN):c.3899A>G (p.Tyr1300Cys) rs188090472 0.00002
NM_001267550.2(TTN):c.3989G>A (p.Arg1330His) rs761402128 0.00002
NM_001267550.2(TTN):c.4889C>T (p.Ala1630Val) rs371601918 0.00002
NM_001267550.2(TTN):c.3810T>C (p.Leu1270=) rs878883624 0.00001
NM_001267550.2(TTN):c.3868G>A (p.Glu1290Lys) rs748755381 0.00001
NM_001267550.2(TTN):c.3876A>G (p.Gly1292=) rs755784209 0.00001
NM_001267550.2(TTN):c.4108A>G (p.Lys1370Glu) rs1453568535 0.00001
NM_001267550.2(TTN):c.4110A>G (p.Lys1370=) rs1554011877 0.00001
NM_001267550.2(TTN):c.4131G>A (p.Gly1377=) rs777874876 0.00001
NM_001267550.2(TTN):c.4170G>A (p.Pro1390=) rs369005241 0.00001
NM_001267550.2(TTN):c.4188A>G (p.Leu1396=) rs192329423 0.00001
NM_001267550.2(TTN):c.4197G>C (p.Val1399=) rs770601569 0.00001
NM_001267550.2(TTN):c.4292G>A (p.Arg1431Gln) rs373690688 0.00001
NM_001267550.2(TTN):c.4452T>C (p.Pro1484=) rs727503695 0.00001
NM_001267550.2(TTN):c.4641G>T (p.Val1547=) rs1012929202 0.00001
NM_001267550.2(TTN):c.4740G>A (p.Thr1580=) rs765087240 0.00001
NM_001267550.2(TTN):c.4894G>A (p.Ala1632Thr) rs1250136125 0.00001
NM_001267550.2(TTN):c.3730-5C>T rs1574709001
NM_001267550.2(TTN):c.3968C>T (p.Ala1323Val) rs774954394
NM_001267550.2(TTN):c.3990C>T (p.Arg1330=)
NM_001267550.2(TTN):c.4002A>C (p.Gly1334=)
NM_001267550.2(TTN):c.4008del (p.Arg1336fs)
NM_001267550.2(TTN):c.4011C>T (p.Tyr1337=) rs1246677370
NM_001267550.2(TTN):c.4027C>T (p.Gln1343Ter) rs727503697
NM_001267550.2(TTN):c.4092_4097del (p.Phe1365_Ala1366del)
NM_001267550.2(TTN):c.4182C>G (p.Pro1394=) rs775070186
NM_001267550.2(TTN):c.4213C>G (p.Leu1405Val)
NM_001267550.2(TTN):c.4220C>A (p.Pro1407Gln)
NM_001267550.2(TTN):c.4227A>G (p.Ser1409=) rs2154346890
NM_001267550.2(TTN):c.4276_4290del (p.1420ARMSP[3])
NM_001267550.2(TTN):c.4289C>A (p.Ala1430Glu) rs577298130
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro) rs72647876
NM_001267550.2(TTN):c.4330G>T (p.Glu1444Ter)
NM_001267550.2(TTN):c.4401A>G (p.Lys1467=)
NM_001267550.2(TTN):c.4451C>T (p.Pro1484Leu)
NM_001267550.2(TTN):c.4464G>A (p.Thr1488=) rs1287524221
NM_001267550.2(TTN):c.4475A>T (p.His1492Leu)
NM_001267550.2(TTN):c.4535C>T (p.Thr1512Ile)
NM_001267550.2(TTN):c.4547T>C (p.Ile1516Thr)
NM_001267550.2(TTN):c.4561A>C (p.Thr1521Pro) rs1574674545
NM_001267550.2(TTN):c.4575T>C (p.Ser1525=)
NM_001267550.2(TTN):c.4590G>C (p.Val1530=)
NM_001267550.2(TTN):c.4592_4596del (p.Val1531fs) rs1131691910
NM_001267550.2(TTN):c.4598A>G (p.Gln1533Arg)
NM_001267550.2(TTN):c.4642G>T (p.Glu1548Ter)
NM_001267550.2(TTN):c.4646-5T>A rs750400475
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.4741G>A (p.Gly1581Ser)
NM_001267550.2(TTN):c.4749_4754del (p.1582NP[1]) rs1242020329
NM_001267550.2(TTN):c.4752C>A (p.Asn1584Lys)
NM_001267550.2(TTN):c.4752C>T (p.Asn1584=) rs879252955
NM_001267550.2(TTN):c.4821A>C (p.Glu1607Asp)
NM_001267550.2(TTN):c.4852G>T (p.Asp1618Tyr) rs794727465
NM_001267550.2(TTN):c.4921A>G (p.Thr1641Ala)
NM_001267550.2(TTN):c.4929C>T (p.Cys1643=)

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