ClinVar Miner

List of variants in gene combination LOC101927055, 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.3988C>T (p.Arg1330Cys)	rs771294359	0.00002
NM_001267550.2(TTN):c.4322G>A (p.Arg1441His)	rs72647876

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