ClinVar Miner

List of variants reported as pathogenic for Tibial muscular dystrophy by Mendelics

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.35154dup (p.Val11719fs) rs2067087661
NM_001267550.2(TTN):c.65863+1G>A rs2154178615

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