ClinVar Miner

List of variants in gene TTN reported as benign by Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)

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Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.8902+14del rs573000455 0.16798
NM_001267550.2(TTN):c.8902+16del rs570467105 0.16737
NM_001267550.2(TTN):c.79062T>A (p.Gly26354=) rs3731744 0.05786
NM_001267550.2(TTN):c.107267T>C (p.Val35756Ala) rs16866378 0.05725
NM_001267550.2(TTN):c.29799G>A (p.Ser9933=) rs2742344 0.05063
NM_001267550.2(TTN):c.26200+19A>T rs2562837 0.04396
NM_001267550.2(TTN):c.28662G>A (p.Arg9554=) rs2742332 0.04384
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln) rs72648998 0.04075
NM_001267550.2(TTN):c.76343G>A (p.Ser25448Asn) rs3813243 0.04071
NM_001267550.2(TTN):c.65575+19T>G rs72646865 0.03204
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr) rs35683768 0.02431
NM_001267550.2(TTN):c.25626G>T (p.Gln8542His) rs2562832 0.02406
NM_001267550.2(TTN):c.25707T>C (p.Tyr8569=) rs2742329 0.02401
NM_001267550.2(TTN):c.36203-9T>C rs2562849 0.02192
NM_001267550.2(TTN):c.38880A>G (p.Pro12960=) rs2742354 0.02192
NM_001267550.2(TTN):c.42071A>G (p.His14024Arg) rs2288563 0.02080
NM_001267550.2(TTN):c.86811A>G (p.Val28937=) rs55972010 0.02012
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670 0.01276
NM_001267550.2(TTN):c.15850G>A (p.Val5284Met) rs66839174 0.00398
NM_001267550.2(TTN):c.10854A>C (p.Gln3618His) rs79466278 0.00365
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=) rs72650077 0.00247
NM_001267550.2(TTN):c.5231C>T (p.Pro1744Leu) rs75686037 0.00202
NM_001267550.2(TTN):c.33581-18T>C rs148392677 0.00113
NM_001267550.2(TTN):c.80322C>T (p.Ala26774=) rs55892928 0.00094
NM_001267550.2(TTN):c.65775C>T (p.Ser21925=) rs72646867 0.00075

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