ClinVar Miner

List of variants in gene combination LOC101927055, TTN reported as uncertain significance for not provided

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Total variants: 104
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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.4396T>C (p.Phe1466Leu) rs151310601 0.00089
NM_001267550.2(TTN):c.4208G>C (p.Arg1403Thr) rs531590921 0.00029
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.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.3913G>T (p.Gly1305Trp) rs199889888 0.00003
NM_001267550.2(TTN):c.4463C>T (p.Thr1488Met) rs111282958 0.00003
NM_001267550.2(TTN):c.4532G>A (p.Gly1511Asp) rs751606948 0.00003
NM_001267550.2(TTN):c.4650G>A (p.Val1550=) rs915170239 0.00003
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.4362A>G (p.Leu1454=) rs794727406 0.00002
NM_001267550.2(TTN):c.4552G>A (p.Val1518Ile) rs755962102 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.3819A>C (p.Glu1273Asp) rs765443634 0.00001
NM_001267550.2(TTN):c.3868G>A (p.Glu1290Lys) rs748755381 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.4238C>G (p.Ser1413Cys) rs886042744 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.4641G>T (p.Val1547=) rs1012929202 0.00001
NM_001267550.2(TTN):c.4700T>C (p.Ile1567Thr) rs145957227 0.00001
NM_001267550.2(TTN):c.4837G>A (p.Ala1613Thr) rs757349504 0.00001
NM_001267550.2(TTN):c.4903A>G (p.Lys1635Glu) rs776274777 0.00001
NM_001267550.2(TTN):c.3742_3745del (p.Ser1248fs) rs2154347788
NM_001267550.2(TTN):c.3822T>G (p.Asp1274Glu)
NM_001267550.2(TTN):c.3874G>A (p.Gly1292Arg)
NM_001267550.2(TTN):c.3874G>T (p.Gly1292Ter) rs886042433
NM_001267550.2(TTN):c.3887G>A (p.Arg1296Lys)
NM_001267550.2(TTN):c.3934T>C (p.Cys1312Arg)
NM_001267550.2(TTN):c.3942G>A (p.Met1314Ile)
NM_001267550.2(TTN):c.3963+4A>G rs2154347664
NM_001267550.2(TTN):c.3972G>C (p.Trp1324Cys)
NM_001267550.2(TTN):c.3976A>T (p.Lys1326Ter)
NM_001267550.2(TTN):c.4019A>G (p.Asp1340Gly)
NM_001267550.2(TTN):c.4032T>A (p.Asp1344Glu)
NM_001267550.2(TTN):c.4040C>G (p.Ala1347Gly) rs1561322862
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.4090G>A (p.Ala1364Thr)
NM_001267550.2(TTN):c.4118C>T (p.Ala1373Val)
NM_001267550.2(TTN):c.4126T>C (p.Ser1376Pro) rs1060500425
NM_001267550.2(TTN):c.4135T>G (p.Leu1379Val)
NM_001267550.2(TTN):c.4150G>A (p.Ala1384Thr) rs144609506
NM_001267550.2(TTN):c.4206C>T (p.Ile1402=) rs1554011604
NM_001267550.2(TTN):c.4208G>A (p.Arg1403Lys)
NM_001267550.2(TTN):c.4227A>G (p.Ser1409=) rs2154346890
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.4322G>A (p.Arg1441His) rs72647876
NM_001267550.2(TTN):c.4330del (p.Glu1444fs)
NM_001267550.2(TTN):c.4378G>A (p.Val1460Met)
NM_001267550.2(TTN):c.4412G>A (p.Gly1471Glu)
NM_001267550.2(TTN):c.4414C>A (p.Gln1472Lys)
NM_001267550.2(TTN):c.4440T>G (p.Val1480=)
NM_001267550.2(TTN):c.4451C>G (p.Pro1484Arg)
NM_001267550.2(TTN):c.4480+1G>A rs766581255
NM_001267550.2(TTN):c.4529A>G (p.Asp1510Gly)
NM_001267550.2(TTN):c.4531G>A (p.Gly1511Ser) rs1045727624
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.4592T>A (p.Val1531Asp) rs794727429
NM_001267550.2(TTN):c.4592_4596del (p.Val1531fs) rs1131691910
NM_001267550.2(TTN):c.4624T>G (p.Ser1542Ala)
NM_001267550.2(TTN):c.4636A>G (p.Thr1546Ala)
NM_001267550.2(TTN):c.4667C>T (p.Pro1556Leu)
NM_001267550.2(TTN):c.4679A>G (p.Glu1560Gly)
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.4770G>C (p.Leu1590Phe)
NM_001267550.2(TTN):c.4811T>C (p.Ile1604Thr) rs2154346478
NM_001267550.2(TTN):c.4843C>T (p.Leu1615Phe)
NM_001267550.2(TTN):c.4852G>T (p.Asp1618Tyr) rs794727465
NM_001267550.2(TTN):c.4899TAA[1] (p.Asn1634del)
NM_001267550.2(TTN):c.4910del (p.Gly1637fs) rs886044013
NM_001267550.2(TTN):c.4916A>G (p.Asp1639Gly)

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