ClinVar Miner

List of variants in gene TTN reported by OMIM

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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) rs138060032 0.00029
NM_001267550.2(TTN):c.14339G>A (p.Ser4780Asn) rs147879266 0.00003
NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg) rs375159973 0.00002
NM_001267550.2(TTN):c.160G>A (p.Val54Met) rs139517732 0.00001
NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys) rs281864927
NM_001267550.2(TTN):c.107788T>C (p.Trp35930Arg) rs1018591024
NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn) rs281864928
NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro) rs267607156
NM_001267550.2(TTN):c.13108C>T (p.Gln4370Ter) rs267607158
NM_001267550.2(TTN):c.2219G>T (p.Arg740Leu) rs28933405
NM_001267550.2(TTN):c.2228C>T (p.Ala743Val) rs267607157
NM_001267550.2(TTN):c.2926T>C (p.Trp976Arg) rs267607155
NM_001267550.2(TTN):c.9163+1G>C rs1060500549
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg) rs869320740
NM_003319.4(TTN):c.43495_43496dup (p.Thr14500fs) rs2154172276
TTN:c.106668delA (p.Lys35556Argfs) rs587776772

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