ClinVar Miner

List of variants in gene TTN reported as pathogenic by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.20836+1G>A rs1553915256
NM_001267550.2(TTN):c.47961del (p.Gly15988fs) rs1553707780
NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter) rs751502842
NM_001267550.2(TTN):c.74567G>A (p.Trp24856Ter) rs1057518851

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