ClinVar Miner

List of variants in gene combination LOC126806428, TTN reported by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.20861C>T (p.Ala6954Val) rs17355446 0.02915
NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn) rs72648962 0.01586
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe) rs114626713 0.00491
NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp) rs72648964 0.00335
NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg) rs200594798 0.00073
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr) rs201394117 0.00042
NM_001267550.2(TTN):c.21148C>T (p.Leu7050=) rs202089818 0.00038
NM_001267550.2(TTN):c.21345A>C (p.Thr7115=) rs758613310

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