ClinVar Miner

List of variants in gene combination LOC126806433, TTN reported as likely pathogenic for Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.6846T>A (p.Tyr2282Ter)
NM_001267550.2(TTN):c.7057+2T>C	rs2154345049
NM_001267550.2(TTN):c.7332dup (p.Val2445fs)

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