ClinVar Miner

List of variants in gene combination LOC101927055, TTN reported as uncertain significance for Cardiovascular phenotype

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Total variants: 39
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HGVS dbSNP gnomAD frequency
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.4228G>C (p.Val1410Leu) rs576593161 0.00010
NM_001267550.2(TTN):c.4462A>G (p.Thr1488Ala) rs146732280 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.3847A>G (p.Ile1283Val) rs1391955404 0.00003
NM_001267550.2(TTN):c.3913G>T (p.Gly1305Trp) rs199889888 0.00003
NM_001267550.2(TTN):c.3899A>G (p.Tyr1300Cys) rs188090472 0.00002
NM_001267550.2(TTN):c.3989G>A (p.Arg1330His) rs761402128 0.00002
NM_001267550.2(TTN):c.4889C>T (p.Ala1630Val) rs371601918 0.00002
NM_001267550.2(TTN):c.3868G>A (p.Glu1290Lys) rs748755381 0.00001
NM_001267550.2(TTN):c.4108A>G (p.Lys1370Glu) rs1453568535 0.00001
NM_001267550.2(TTN):c.4292G>A (p.Arg1431Gln) rs373690688 0.00001
NM_001267550.2(TTN):c.4894G>A (p.Ala1632Thr) rs1250136125 0.00001
NM_001267550.2(TTN):c.3730-5C>T rs1574709001
NM_001267550.2(TTN):c.3968C>T (p.Ala1323Val) rs774954394
NM_001267550.2(TTN):c.4008del (p.Arg1336fs)
NM_001267550.2(TTN):c.4027C>T (p.Gln1343Ter) rs727503697
NM_001267550.2(TTN):c.4092_4097del (p.Phe1365_Ala1366del)
NM_001267550.2(TTN):c.4220C>A (p.Pro1407Gln)
NM_001267550.2(TTN):c.4276_4290del (p.1420ARMSP[3])
NM_001267550.2(TTN):c.4330G>T (p.Glu1444Ter)
NM_001267550.2(TTN):c.4451C>T (p.Pro1484Leu)
NM_001267550.2(TTN):c.4475A>T (p.His1492Leu)
NM_001267550.2(TTN):c.4535C>T (p.Thr1512Ile)
NM_001267550.2(TTN):c.4547T>C (p.Ile1516Thr)
NM_001267550.2(TTN):c.4561A>C (p.Thr1521Pro) rs1574674545
NM_001267550.2(TTN):c.4592_4596del (p.Val1531fs) rs1131691910
NM_001267550.2(TTN):c.4598A>G (p.Gln1533Arg)
NM_001267550.2(TTN):c.4642G>T (p.Glu1548Ter)
NM_001267550.2(TTN):c.4646-5T>A rs750400475
NM_001267550.2(TTN):c.4714C>T (p.Arg1572Ter) rs1554008881
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs) rs756433029
NM_001267550.2(TTN):c.4741G>A (p.Gly1581Ser)
NM_001267550.2(TTN):c.4749_4754del (p.1582NP[1]) rs1242020329
NM_001267550.2(TTN):c.4821A>C (p.Glu1607Asp)
NM_001267550.2(TTN):c.4852G>T (p.Asp1618Tyr) rs794727465
NM_001267550.2(TTN):c.4921A>G (p.Thr1641Ala)

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