ClinVar Miner

List of variants in gene combination LOC126806425, TTN reported as likely benign for Tibial muscular dystrophy

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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.53142T>C (p.Asp17714=)	rs373316165	0.00007
NM_001267550.2(TTN):c.52693C>G (p.His17565Asp)	rs370126872

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