ClinVar Miner

List of variants in gene combination LOC126806422, TTN reported as likely pathogenic for Cardiomyopathy

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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: 2

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.70069dup (p.Arg23357fs)	rs1709972937
NM_001267550.2(TTN):c.70420A>T (p.Lys23474Ter)	rs2154172475

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