ClinVar Miner

List of variants studied for Primary dilated cardiomyopathy; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.49648+2del rs727504851 0.00003
NM_001267550.2(TTN):c.12519_12520del (p.Glu4173fs) rs1553939605
NM_001267550.2(TTN):c.44281+1G>A rs771562210
NM_001267550.2(TTN):c.51449del (p.Pro17150fs) rs2055912067
NM_001267550.2(TTN):c.65505del (p.Ile21835fs) rs1559521007

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