ClinVar Miner

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

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu) rs151310601 0.00089
NM_001267550.2(TTN):c.4291C>T (p.Arg1431Trp) rs139636676 0.00016
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.4150G>T (p.Ala1384Ser) rs144609506 0.00010
NM_001267550.2(TTN):c.4228G>C (p.Val1410Leu) rs576593161 0.00010
NM_001267550.2(TTN):c.4081A>C (p.Ile1361Leu) rs145308734 0.00007
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.4274C>T (p.Ala1425Val) rs746063269 0.00004
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.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.4076A>G (p.Glu1359Gly) rs370978752 0.00001
NM_001267550.2(TTN):c.4169C>T (p.Pro1390Leu) rs144011561 0.00001
NM_001267550.2(TTN):c.4309A>G (p.Met1437Val) rs758098952 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.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.4874C>G (p.Ser1625Cys) rs185789611 0.00001
NM_001267550.2(TTN):c.4903A>G (p.Lys1635Glu) rs776274777 0.00001
NM_001267550.2(TTN):c.3736C>A (p.His1246Asn) rs1554012975
NM_001267550.2(TTN):c.3817G>T (p.Glu1273Ter) rs2154347744
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.3963+1G>T rs1561325112
NM_001267550.2(TTN):c.3963+3A>G rs2092547968
NM_001267550.2(TTN):c.3972G>A (p.Trp1324Ter) rs1561323791
NM_001267550.2(TTN):c.4017G>C (p.Met1339Ile) rs1561323191
NM_001267550.2(TTN):c.4027C>T (p.Gln1343Ter) rs727503697
NM_001267550.2(TTN):c.4057GTT[1] (p.Val1354del) rs878854304
NM_001267550.2(TTN):c.4102A>C (p.Asn1368His) rs1377114122
NM_001267550.2(TTN):c.4126T>C (p.Ser1376Pro) rs1060500425
NM_001267550.2(TTN):c.4195G>T (p.Val1399Leu) rs1554011657
NM_001267550.2(TTN):c.4216_4219del (p.Ser1406fs) rs2154346896
NM_001267550.2(TTN):c.4218_4219del (p.Pro1407fs)
NM_001267550.2(TTN):c.4301del (p.Pro1434fs)
NM_001267550.2(TTN):c.4322G>A (p.Arg1441His) rs72647876
NM_001267550.2(TTN):c.4330del (p.Glu1444fs)
NM_001267550.2(TTN):c.4385_4386delinsG (p.Lys1462fs) rs2092387027
NM_001267550.2(TTN):c.4413del (p.Gln1472fs) rs2092384255
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.4537C>T (p.Gln1513Ter) rs2092360420
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.4766G>A (p.Trp1589Ter)
NM_001267550.2(TTN):c.4814+3A>C rs567197047
NM_001267550.2(TTN):c.4814+6T>C
NM_001267550.2(TTN):c.4880G>A (p.Trp1627Ter) rs767755367
NM_001267550.2(TTN):c.4910del (p.Gly1637fs) rs886044013

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