ClinVar Miner

List of variants in gene TTN reported by Centogene AG - the Rare Disease Company

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.34435G>C (p.Glu11479Gln) rs1298237270 0.00001
NM_001267550.2(TTN):c.82019T>A (p.Ile27340Lys) rs371592971 0.00001
NM_001267550.2(TTN):c.13115del (p.Val4372fs) rs2154317965
NM_001267550.2(TTN):c.20392A>T (p.Lys6798Ter) rs2154304590
NM_001267550.2(TTN):c.2224del (p.Ser742fs) rs2093148818
NM_001267550.2(TTN):c.38523del (p.Lys12841fs) rs1457702153
NM_001267550.2(TTN):c.82720C>T (p.Pro27574Ser) rs2154161353

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