ClinVar Miner

List of variants in gene TTN reported by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005 0.00531
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val) rs201562505 0.00102
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr) rs72648227 0.00073
NM_001267550.2(TTN):c.38902C>T (p.Pro12968Ser) rs192528655 0.00072
NM_001267550.2(TTN):c.14813T>C (p.Phe4938Ser) rs560537668 0.00012
NM_001267550.2(TTN):c.57073G>A (p.Val19025Ile) rs181957743 0.00011
NM_001267550.2(TTN):c.58017G>C (p.Leu19339Phe) rs368025965 0.00005
NM_001267550.2(TTN):c.3410G>A (p.Gly1137Asp) rs864309575 0.00001
NM_001267550.2(TTN):c.24229C>A (p.Pro8077Thr) rs758548104
NM_001267550.2(TTN):c.43978G>A (p.Gly14660Arg) rs762795774
NM_001267550.2(TTN):c.87616GAA[1] (p.Glu29207del) rs753636173

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