ClinVar Miner

List of variants in gene TTN reported by Clinical Genetics Laboratory, Skane University Hospital Lund

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Gene type:
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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.27847G>A (p.Val9283Met) rs727504515 0.00004
NM_001267550.2(TTN):c.67210G>A (p.Val22404Met) rs369257896 0.00004
NM_001267550.2(TTN):c.41641C>T (p.Arg13881Ter) rs747469275 0.00003
NM_001267550.2(TTN):c.41932G>A (p.Glu13978Lys) rs746667196 0.00003
NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg) rs375159973 0.00002
NM_001267550.2(TTN):c.103771C>T (p.Arg34591Ter) rs967542291 0.00001
NM_001267550.2(TTN):c.104399del (p.Arg34800fs) rs747662439 0.00001
NM_001267550.2(TTN):c.27329-1G>T rs1378646156 0.00001
NM_001267550.2(TTN):c.48119G>A (p.Arg16040His) rs956699957 0.00001
NM_001267550.2(TTN):c.55432+5G>C rs754717390 0.00001
NM_001267550.2(TTN):c.5810C>G (p.Ser1937Cys) rs747895202 0.00001
NM_001267550.2(TTN):c.92317C>T (p.Arg30773Ter) rs794729301 0.00001
NC_000002.12:g.178552644_178552645del rs773840992
NM_001267550.2(TTN):c.102234_102237del (p.Arg34079fs) rs754731686
NM_001267550.2(TTN):c.10769A>T (p.Glu3590Val)
NM_001267550.2(TTN):c.11311+2908G>C
NM_001267550.2(TTN):c.20836+2T>C rs776932740
NM_001267550.2(TTN):c.23513del (p.Glu7838fs)
NM_001267550.2(TTN):c.26911A>G (p.Lys8971Glu)
NM_001267550.2(TTN):c.27824A>G (p.Tyr9275Cys)
NM_001267550.2(TTN):c.30429T>G (p.Asp10143Glu)
NM_001267550.2(TTN):c.32653A>G (p.Met10885Val) rs200732179
NM_001267550.2(TTN):c.32805A>G (p.Lys10935=)
NM_001267550.2(TTN):c.33637AAG[2] (p.Lys11215del) rs755085826
NM_001267550.2(TTN):c.38546-2del rs1486772794
NM_001267550.2(TTN):c.41900T>C (p.Leu13967Pro)
NM_001267550.2(TTN):c.44284C>T (p.Arg14762Ter) rs770767998
NM_001267550.2(TTN):c.46141_46142del (p.Val15381fs)
NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter) rs751502842
NM_001267550.2(TTN):c.50723del (p.Lys16908fs)
NM_001267550.2(TTN):c.52317dup (p.Glu17440fs)
NM_001267550.2(TTN):c.56340del (p.Asn18780fs)
NM_001267550.2(TTN):c.61411del (p.Leu20471fs)
NM_001267550.2(TTN):c.63254G>A (p.Trp21085Ter)
NM_001267550.2(TTN):c.63615del (p.Val21206fs)
NM_001267550.2(TTN):c.658C>T (p.Arg220Ter) rs748313513
NM_001267550.2(TTN):c.66885del (p.Trp22295fs)
NM_001267550.2(TTN):c.69379C>T (p.Gln23127Ter)
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.74589dup (p.Ala24864fs)
NM_001267550.2(TTN):c.74760_74767delinsAC (p.Ser24921_Asp24923delinsHis) rs2154169263
NM_001267550.2(TTN):c.76373del (p.Pro25458fs) rs869025553
NM_001267550.2(TTN):c.77021G>C (p.Arg25674Thr)
NM_001267550.2(TTN):c.77203G>A (p.Val25735Met)
NM_001267550.2(TTN):c.78991C>T (p.Arg26331Ter) rs779996703
NM_001267550.2(TTN):c.82891T>G (p.Phe27631Val)
NM_001267550.2(TTN):c.85640_85652del (p.Pro28547fs) rs762286447
NM_001267550.2(TTN):c.86597G>A (p.Trp28866Ter)
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer) rs727504856
NM_001267550.2(TTN):c.87362del (p.Asn29121fs)
NM_001267550.2(TTN):c.89412del (p.Asn29805fs)
NM_001267550.2(TTN):c.90566dup (p.Leu30189fs)
NM_001267550.2(TTN):c.91219del (p.Gly30406_Leu30407insTer)
NM_001267550.2(TTN):c.9212A>G (p.Glu3071Gly)
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg) rs869320740
NM_001267550.2(TTN):c.97129_97130dup (p.Leu32379fs) rs748382770

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