ClinVar Miner

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

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.3884C>T (p.Ser1295Leu) rs1552280 0.94810
NM_001267550.2(TTN):c.4480+6C>T rs719201 0.94321
NM_001267550.2(TTN):c.3759A>G (p.Arg1253=) rs2291308 0.04988
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 0.01178
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.4328T>C (p.Leu1443Pro) rs142317580 0.00198
NM_001267550.2(TTN):c.4199G>C (p.Ser1400Thr) rs138506461 0.00197
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.4322G>C (p.Arg1441Pro) rs72647876
NM_001267550.2(TTN):c.4815-13del rs2532914294

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