ClinVar Miner

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

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Total variants: 7
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NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.104092_104103delinsGAAGCTTT (p.Arg34698fs)
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) rs757082154
NM_001267550.2(TTN):c.35265dup (p.Pro11756fs) rs1198364572
NM_001267550.2(TTN):c.47961del (p.Gly15988fs) rs1553707780
NM_001267550.2(TTN):c.58368dup (p.Tyr19457fs)
NM_001267550.2(TTN):c.79599_79621del (p.Glu26533fs)

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