ClinVar Miner

List of variants in gene combination LOC101927055, TTN reported as likely benign for Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J

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Gene type:
ClinVar version:
Total variants: 144
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile) rs139192633 0.00097
NM_001267550.2(TTN):c.4208G>C (p.Arg1403Thr) rs531590921 0.00029
NM_001267550.2(TTN):c.3835A>T (p.Met1279Leu) rs374497665 0.00014
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.3813T>C (p.Leu1271=) rs773274762 0.00008
NM_001267550.2(TTN):c.4602C>T (p.Asn1534=) rs546385657 0.00008
NM_001267550.2(TTN):c.3909T>G (p.Leu1303=) rs758404767 0.00007
NM_001267550.2(TTN):c.3798A>C (p.Thr1266=) rs527497634 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.4645+12T>C rs776972037 0.00004
NM_001267550.2(TTN):c.4646-7C>A rs758516007 0.00004
NM_001267550.2(TTN):c.4764A>G (p.Val1588=) rs1410819176 0.00004
NM_001267550.2(TTN):c.3730-7T>C rs769998916 0.00002
NM_001267550.2(TTN):c.3777A>G (p.Glu1259=) rs755728462 0.00002
NM_001267550.2(TTN):c.3900T>C (p.Tyr1300=) rs545493849 0.00002
NM_001267550.2(TTN):c.3963+13C>T rs772650637 0.00002
NM_001267550.2(TTN):c.4086C>T (p.Tyr1362=) rs776328283 0.00002
NM_001267550.2(TTN):c.4209-9G>T rs1356088079 0.00002
NM_001267550.2(TTN):c.4275A>G (p.Ala1425=) rs749859784 0.00002
NM_001267550.2(TTN):c.4362A>G (p.Leu1454=) rs794727406 0.00002
NM_001267550.2(TTN):c.3810T>C (p.Leu1270=) rs878883624 0.00001
NM_001267550.2(TTN):c.3876A>G (p.Gly1292=) rs755784209 0.00001
NM_001267550.2(TTN):c.3960A>G (p.Pro1320=) rs1258234358 0.00001
NM_001267550.2(TTN):c.3963+8A>G rs746377261 0.00001
NM_001267550.2(TTN):c.3964-20A>G rs1351703825 0.00001
NM_001267550.2(TTN):c.3987G>A (p.Lys1329=) rs1554012145 0.00001
NM_001267550.2(TTN):c.4098C>T (p.Ala1366=) rs760223250 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.4209-16T>C rs1285849113 0.00001
NM_001267550.2(TTN):c.4209-17G>A rs373298221 0.00001
NM_001267550.2(TTN):c.4209-7T>A rs1019967674 0.00001
NM_001267550.2(TTN):c.4212T>A (p.Ser1404=) rs879245687 0.00001
NM_001267550.2(TTN):c.4314C>T (p.Ser1438=) rs764817754 0.00001
NM_001267550.2(TTN):c.4452T>C (p.Pro1484=) rs727503695 0.00001
NM_001267550.2(TTN):c.4481-17T>C rs1298684196 0.00001
NM_001267550.2(TTN):c.4617T>G (p.Ser1539=) rs2092352736 0.00001
NM_001267550.2(TTN):c.4641G>T (p.Val1547=) rs1012929202 0.00001
NM_001267550.2(TTN):c.4645+19A>G rs773772445 0.00001
NM_001267550.2(TTN):c.4740G>A (p.Thr1580=) rs765087240 0.00001
NM_001267550.2(TTN):c.4890G>A (p.Ala1630=) rs752145538 0.00001
NM_001267550.2(TTN):c.4893T>C (p.Thr1631=) rs761409910 0.00001
NM_001267550.2(TTN):c.3730-17A>G rs1201217068
NM_001267550.2(TTN):c.3730-19C>A
NM_001267550.2(TTN):c.3730-5C>T rs1574709001
NM_001267550.2(TTN):c.3730-6G>A
NM_001267550.2(TTN):c.3730-6G>C rs1018613188
NM_001267550.2(TTN):c.3738T>C (p.His1246=)
NM_001267550.2(TTN):c.3762T>C (p.Leu1254=)
NM_001267550.2(TTN):c.3780T>C (p.Tyr1260=) rs956832626
NM_001267550.2(TTN):c.3813T>G (p.Leu1271=)
NM_001267550.2(TTN):c.3822T>C (p.Asp1274=) rs762080939
NM_001267550.2(TTN):c.3864T>C (p.Ala1288=)
NM_001267550.2(TTN):c.3873A>T (p.Ser1291=) rs2154347704
NM_001267550.2(TTN):c.3927T>G (p.Thr1309=)
NM_001267550.2(TTN):c.3939G>A (p.Lys1313=) rs2154347674
NM_001267550.2(TTN):c.3945T>A (p.Ser1315=)
NM_001267550.2(TTN):c.3948A>C (p.Gly1316=) rs2154347668
NM_001267550.2(TTN):c.3963+10A>G
NM_001267550.2(TTN):c.3963+9T>C rs1554012412
NM_001267550.2(TTN):c.3964-4G>T
NM_001267550.2(TTN):c.3964-6T>C
NM_001267550.2(TTN):c.3964-9T>C
NM_001267550.2(TTN):c.3975C>T (p.Tyr1325=) rs775341456
NM_001267550.2(TTN):c.3984C>A (p.Gly1328=) rs72647872
NM_001267550.2(TTN):c.3999T>C (p.His1333=)
NM_001267550.2(TTN):c.4011C>T (p.Tyr1337=) rs1246677370
NM_001267550.2(TTN):c.4041T>C (p.Ala1347=) rs2154347569
NM_001267550.2(TTN):c.4045C>T (p.Leu1349=) rs2154347567
NM_001267550.2(TTN):c.4047G>A (p.Leu1349=)
NM_001267550.2(TTN):c.4059T>G (p.Val1353=)
NM_001267550.2(TTN):c.4068A>G (p.Pro1356=)
NM_001267550.2(TTN):c.4089T>A (p.Thr1363=)
NM_001267550.2(TTN):c.4101C>T (p.Ser1367=) rs1307238681
NM_001267550.2(TTN):c.4134A>G (p.Lys1378=) rs1230375831
NM_001267550.2(TTN):c.4182C>G (p.Pro1394=) rs775070186
NM_001267550.2(TTN):c.4185A>G (p.Thr1395=) rs905104077
NM_001267550.2(TTN):c.4197G>A (p.Val1399=)
NM_001267550.2(TTN):c.4206C>T (p.Ile1402=) rs1554011604
NM_001267550.2(TTN):c.4208+15A>C
NM_001267550.2(TTN):c.4209-18T>C
NM_001267550.2(TTN):c.4209-19G>A
NM_001267550.2(TTN):c.4209-19G>T
NM_001267550.2(TTN):c.4209-8T>C rs2154346907
NM_001267550.2(TTN):c.4218T>A (p.Ser1406=)
NM_001267550.2(TTN):c.4261C>A (p.Arg1421=)
NM_001267550.2(TTN):c.4284T>C (p.Ser1428=) rs771454835
NM_001267550.2(TTN):c.4289C>A (p.Ala1430Glu) rs577298130
NM_001267550.2(TTN):c.4291C>A (p.Arg1431=)
NM_001267550.2(TTN):c.4299C>T (p.Ser1433=) rs2092394103
NM_001267550.2(TTN):c.4302T>C (p.Pro1434=) rs1561310756
NM_001267550.2(TTN):c.4332G>A (p.Glu1444=)
NM_001267550.2(TTN):c.4413G>A (p.Gly1471=) rs2092384042
NM_001267550.2(TTN):c.4416A>G (p.Gln1472=)
NM_001267550.2(TTN):c.4446T>C (p.Gly1482=)
NM_001267550.2(TTN):c.4458A>G (p.Pro1486=) rs2154346768
NM_001267550.2(TTN):c.4461G>A (p.Glu1487=) rs1574678821
NM_001267550.2(TTN):c.4464G>A (p.Thr1488=) rs1287524221
NM_001267550.2(TTN):c.4480+14G>A rs2154346741
NM_001267550.2(TTN):c.4480+7G>A rs1554009657
NM_001267550.2(TTN):c.4481-16A>C rs1364656520
NM_001267550.2(TTN):c.4481-18T>C rs2154346676
NM_001267550.2(TTN):c.4482C>T (p.Gly1494=)
NM_001267550.2(TTN):c.4506C>A (p.Thr1502=)
NM_001267550.2(TTN):c.4527A>G (p.Glu1509=) rs2154346647
NM_001267550.2(TTN):c.4533T>C (p.Gly1511=)
NM_001267550.2(TTN):c.4539A>G (p.Gln1513=) rs2092360060
NM_001267550.2(TTN):c.4543C>T (p.Leu1515=) rs1465910141
NM_001267550.2(TTN):c.4548T>A (p.Ile1516=)
NM_001267550.2(TTN):c.4557T>C (p.Pro1519=) rs1574674675
NM_001267550.2(TTN):c.4563A>T (p.Thr1521=)
NM_001267550.2(TTN):c.4575T>C (p.Ser1525=)
NM_001267550.2(TTN):c.4623T>A (p.Ile1541=)
NM_001267550.2(TTN):c.4645+18A>G
NM_001267550.2(TTN):c.4645+18A>T
NM_001267550.2(TTN):c.4645+8G>A
NM_001267550.2(TTN):c.4645+9A>G
NM_001267550.2(TTN):c.4646-14C>T
NM_001267550.2(TTN):c.4646-18A>G rs779819518
NM_001267550.2(TTN):c.4686G>T (p.Leu1562=) rs2154346540
NM_001267550.2(TTN):c.4716A>C (p.Arg1572=)
NM_001267550.2(TTN):c.4734A>G (p.Arg1578=) rs2154346510
NM_001267550.2(TTN):c.4740G>C (p.Thr1580=)
NM_001267550.2(TTN):c.4749C>T (p.Pro1583=) rs2154346505
NM_001267550.2(TTN):c.4752C>T (p.Asn1584=) rs879252955
NM_001267550.2(TTN):c.4761T>C (p.Ile1587=) rs2092325624
NM_001267550.2(TTN):c.4794T>G (p.Pro1598=) rs2154346489
NM_001267550.2(TTN):c.4814+16A>G
NM_001267550.2(TTN):c.4814+18A>G rs2092313768
NM_001267550.2(TTN):c.4814+9G>A rs768137657
NM_001267550.2(TTN):c.4814+9G>C rs768137657
NM_001267550.2(TTN):c.4815-10C>T rs2154346415
NM_001267550.2(TTN):c.4815-15C>T rs2154346421
NM_001267550.2(TTN):c.4815-6T>C rs2154346410
NM_001267550.2(TTN):c.4827C>G (p.Thr1609=)
NM_001267550.2(TTN):c.4890G>T (p.Ala1630=) rs752145538
NM_001267550.2(TTN):c.4911C>T (p.Gly1637=)
NM_001267550.2(TTN):c.4914A>G (p.Arg1638=) rs2154346368
NM_001267550.2(TTN):c.4923A>G (p.Thr1641=)

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