ClinVar Miner

List of variants in gene LOC101927055, TTN studied for not specified

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Gene type:
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Total variants: 69
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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.3963+22T>C rs2291301 0.94740
NM_001267550.2(TTN):c.4480+6C>T rs719201 0.94227
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.4645+8G>T rs144456585 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.3835A>T (p.Met1279Leu) rs374497665 0.00014
NM_001267550.2(TTN):c.4160T>C (p.Leu1387Pro) rs115303497 0.00012
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.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.3798A>C (p.Thr1266=) rs527497634 0.00005
NM_001267550.2(TTN):c.4153G>A (p.Ala1385Thr) rs140760859 0.00005
NM_001267550.2(TTN):c.4274C>T (p.Ala1425Val) rs746063269 0.00004
NM_001267550.2(TTN):c.4764A>G (p.Val1588=) rs1410819176 0.00004
NM_001267550.2(TTN):c.3913G>T (p.Gly1305Trp) rs199889888 0.00003
NM_001267550.2(TTN):c.3989G>A (p.Arg1330His) rs761402128 0.00002
NM_001267550.2(TTN):c.4429G>C (p.Asp1477His) rs532313981 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.4042A>G (p.Ser1348Gly) rs397517591 0.00001
NM_001267550.2(TTN):c.4076A>G (p.Glu1359Gly) rs370978752 0.00001
NM_001267550.2(TTN):c.4101C>A (p.Ser1367Arg) rs1307238681 0.00001
NM_001267550.2(TTN):c.4110A>G (p.Lys1370=) rs1554011877 0.00001
NM_001267550.2(TTN):c.4117G>A (p.Ala1373Thr) rs867802403 0.00001
NM_001267550.2(TTN):c.4142T>C (p.Val1381Ala) rs794729252 0.00001
NM_001267550.2(TTN):c.4147C>G (p.Pro1383Ala) rs377658313 0.00001
NM_001267550.2(TTN):c.4209-17G>A rs373298221 0.00001
NM_001267550.2(TTN):c.4452T>C (p.Pro1484=) rs727503695 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.4740G>A (p.Thr1580=) rs765087240 0.00001
NM_001267550.2(TTN):c.4851C>T (p.Ile1617=) rs756286153 0.00001
NM_001267550.2(TTN):c.4874C>G (p.Ser1625Cys) rs185789611 0.00001
NM_001267550.2(TTN):c.3963+9T>C rs1554012412
NM_001267550.2(TTN):c.3968C>T (p.Ala1323Val) rs774954394
NM_001267550.2(TTN):c.4081A>G (p.Ile1361Val) rs145308734
NM_001267550.2(TTN):c.4100G>A (p.Ser1367Asn) rs1015028448
NM_001267550.2(TTN):c.4130G>A (p.Gly1377Glu) rs794729573
NM_001267550.2(TTN):c.4153G>C (p.Ala1385Pro) rs140760859
NM_001267550.2(TTN):c.4208+18T>C rs1057523992
NM_001267550.2(TTN):c.4222C>T (p.Arg1408Cys)
NM_001267550.2(TTN):c.4247G>C (p.Arg1416Pro) rs750278602
NM_001267550.2(TTN):c.4269_4298del (p.1420ARMSP[2]) rs727503696
NM_001267550.2(TTN):c.4322G>A (p.Arg1441His) rs72647876
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro) rs72647876
NM_001267550.2(TTN):c.4441G>A (p.Val1481Ile) rs794729574
NM_001267550.2(TTN):c.4526A>C (p.Glu1509Ala) rs794729575
NM_001267550.2(TTN):c.4560C>A (p.Ala1520=) rs1554009279
NM_001267550.2(TTN):c.4714C>T (p.Arg1572Ter) rs1554008881
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs) rs756433029

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