ClinVar Miner

List of variants in gene combination LOC101927055, TTN reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.3884C>T (p.Ser1295Leu) rs1552280 0.94745
NM_001267550.2(TTN):c.4480+6C>T rs719201 0.94227
NM_001267550.2(TTN):c.3759A>G (p.Arg1253=) rs2291308 0.04799
NM_001267550.2(TTN):c.4715G>A (p.Arg1572Gln) rs12476289 0.04792
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.4671G>A (p.Met1557Ile) rs139192633 0.00097
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu) rs151310601 0.00089
NM_001267550.2(TTN):c.4645+8G>T rs144456585 0.00029
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.4261C>T (p.Arg1421Trp) rs144672482 0.00011
NM_001267550.2(TTN):c.4081A>C (p.Ile1361Leu) rs145308734 0.00007
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.3913G>T (p.Gly1305Trp) rs199889888 0.00003
NM_001267550.2(TTN):c.3989G>A (p.Arg1330His) rs761402128 0.00002
NM_001267550.2(TTN):c.4042A>G (p.Ser1348Gly) rs397517591 0.00001
NM_001267550.2(TTN):c.4147C>G (p.Pro1383Ala) rs377658313 0.00001
NM_001267550.2(TTN):c.4452T>C (p.Pro1484=) rs727503695 0.00001
NM_001267550.2(TTN):c.4874C>G (p.Ser1625Cys) rs185789611 0.00001
NM_001267550.2(TTN):c.4027C>T (p.Gln1343Ter) rs727503697
NM_001267550.2(TTN):c.4269_4298del (p.1420ARMSP[2]) rs727503696
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro) rs72647876

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