ClinVar Miner

List of variants in gene combination LOC101927055, TTN studied for Cardiomyopathy

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Total variants: 34
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HGVS dbSNP gnomAD frequency
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.4396T>C (p.Phe1466Leu) rs151310601 0.00089
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.3864T>G (p.Ala1288=) rs368702156 0.00010
NM_001267550.2(TTN):c.4153G>A (p.Ala1385Thr) rs140760859 0.00005
NM_001267550.2(TTN):c.4646-7C>A rs758516007 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.4223G>A (p.Arg1408His) rs754270707 0.00002
NM_001267550.2(TTN):c.4076A>G (p.Glu1359Gly) rs370978752 0.00001
NM_001267550.2(TTN):c.4292G>A (p.Arg1431Gln) rs373690688 0.00001
NM_001267550.2(TTN):c.3972G>A (p.Trp1324Ter) rs1561323791
NM_001267550.2(TTN):c.4057G>C (p.Val1353Leu)
NM_001267550.2(TTN):c.4057GTT[1] (p.Val1354del) rs878854304
NM_001267550.2(TTN):c.4065T>C (p.Leu1355=) rs2092520018
NM_001267550.2(TTN):c.4085A>G (p.Tyr1362Cys) rs965997128
NM_001267550.2(TTN):c.4289C>A (p.Ala1430Glu) rs577298130
NM_001267550.2(TTN):c.4302T>C (p.Pro1434=) rs1561310756
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro) rs72647876
NM_001267550.2(TTN):c.4389T>C (p.Pro1463=) rs2154346797
NM_001267550.2(TTN):c.4426T>C (p.Phe1476Leu) rs2092383287
NM_001267550.2(TTN):c.4437G>A (p.Lys1479=) rs957178236
NM_001267550.2(TTN):c.4444G>A (p.Gly1482Ser)
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs) rs756433029
NM_001267550.2(TTN):c.4748C>T (p.Pro1583Leu) rs2092326705

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