ClinVar Miner

List of variants in gene combination LOC126806425, TTN reported as benign for Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.52917T>C (p.Asp17639=) rs73036398 0.02352
NM_001267550.2(TTN):c.52821T>C (p.Asp17607=) rs2303831 0.02082
NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile) rs2303832 0.02072
NM_001267550.2(TTN):c.52706-17A>G rs72646807 0.01524
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr) rs72646809 0.01131
NM_001267550.2(TTN):c.53288-18G>T rs72646810 0.00643
NM_001267550.2(TTN):c.53002+10G>A rs370352450 0.00006
NM_001267550.2(TTN):c.53260T>C (p.Phe17754Leu) rs397517612 0.00001

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