ClinVar Miner

List of variants in gene combination LOC126806428, TTN reported as uncertain significance for Myopathy, myofibrillar, 9, with early respiratory failure

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Gene type: Distinguish antisense genes from sense genes
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.21142C>T (p.Arg7048Ter)	rs770579313	0.00001
NM_001267550.2(TTN):c.21273A>G (p.Gln7091=)	rs878903172	0.00001

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