ClinVar Miner

List of variants studied for Tibial muscular dystrophy by Genetic Services Laboratory, University of Chicago

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs) rs587780494 0.00003
NM_001267550.2(TTN):c.15796C>T (p.Arg5266Ter) rs372277017 0.00001
NM_001267550.2(TTN):c.5047C>T (p.Arg1683Ter) rs587780490
NM_001267550.2(TTN):c.98606G>C (p.Arg32869Pro) rs587780495

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