ClinVar Miner

List of variants in gene combination LOC126806420, TTN reported as benign for Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.100096G>A (p.Val33366Ile) rs55675869 0.02132
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln) rs55742743 0.01280
NM_001267550.2(TTN):c.100059T>A (p.Ile33353=) rs56026369 0.00099
NM_001267550.2(TTN):c.99865+13T>A rs572802873 0.00010
NM_001267550.2(TTN):c.100172-17dup rs397517782
NM_001267550.2(TTN):c.99810C>T (p.Val33270=) rs564536939
NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu) rs397517781

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