ClinVar Miner

List of variants in gene TTN reported as likely pathogenic by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Gene type:
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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001 0.00001
NM_001267550.2(TTN):c.57378G>A (p.Trp19126Ter) rs1192054216 0.00001
NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter) rs146572907 0.00001
NM_001267550.2(TTN):c.105234del (p.Val35079fs) rs2154133474
NM_001267550.2(TTN):c.2921del (p.Val974fs) rs2154350102
NM_001267550.2(TTN):c.41329+1G>T rs796238032
NM_001267550.2(TTN):c.47352T>G (p.Tyr15784Ter) rs2057661952
NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter) rs751502842
NM_001267550.2(TTN):c.54339del (p.Glu18113fs) rs72648929
NM_001267550.2(TTN):c.54648_54649dup (p.Ser18217fs) rs2154194688
NM_001267550.2(TTN):c.57508G>T (p.Gly19170Ter) rs750947988
NM_001267550.2(TTN):c.58388del (p.Asn19463fs) rs2050854171
NM_001267550.2(TTN):c.58432+2T>C rs796197320
NM_001267550.2(TTN):c.6098del (p.Lys2033fs) rs2154345845
NM_001267550.2(TTN):c.62767del (p.Thr20923fs) rs2154183459
NM_001267550.2(TTN):c.63793+1G>A rs2154182296
NM_001267550.2(TTN):c.63794-1G>A rs2049262622
NM_001267550.2(TTN):c.64672+2T>C rs2154180290
NM_001267550.2(TTN):c.64708del (p.Ser21570fs) rs2048590205
NM_001267550.2(TTN):c.66463+1G>T rs1340087855
NM_001267550.2(TTN):c.7855+1G>T rs746566745
NM_001267550.2(TTN):c.79018G>T (p.Glu26340Ter) rs2154166071
NM_001267550.2(TTN):c.79141A>T (p.Lys26381Ter) rs1131691944
NM_001267550.2(TTN):c.80530del (p.Ser26844fs) rs2154164929
NM_001267550.2(TTN):c.82255C>T (p.Gln27419Ter) rs2154161716
NM_001267550.2(TTN):c.82895_82896del (p.Thr27632fs) rs796267411
NM_001267550.2(TTN):c.84142dup (p.Ile28048fs) rs2154160384
NM_001267550.2(TTN):c.85809del (p.Lys28603fs) rs796983799
NM_001267550.2(TTN):c.87782del (p.Pro29261fs) rs2154155647
NM_001267550.2(TTN):c.89314G>T (p.Glu29772Ter) rs200503016
NM_001267550.2(TTN):c.91152T>A (p.Tyr30384Ter) rs796635140
NM_001267550.2(TTN):c.92847C>G (p.Tyr30949Ter) rs2154147680
NM_001267550.2(TTN):c.94816C>T (p.Arg31606Ter) rs1060500435
NM_001267550.2(TTN):c.98990-1G>T rs796111471

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