ClinVar Miner

List of variants in gene TTN reported by Center for Genetic Medicine Research, Children's National Medical Center

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.1297G>A (p.Val433Ile) rs146000949 0.00031
NM_001267550.2(TTN):c.30437T>A (p.Val10146Asp) rs372185371 0.00003
NM_001267550.2(TTN):c.50614G>C (p.Ala16872Pro) rs727503619 0.00001
NM_001267550.2(TTN):c.101821A>T (p.Arg33941Ter) rs878854388
NM_001267550.2(TTN):c.3490G>T (p.Glu1164Ter) rs878854391
NM_001267550.2(TTN):c.43747+2T>C rs878854384
NM_001267550.2(TTN):c.55418del (p.Arg18473fs) rs878854380
NM_001267550.2(TTN):c.91690G>T (p.Gly30564Ter) rs878854390
NM_001267550.2(TTN):c.[102956_102958delCAA];[62722C>T]
NM_001267550.2(TTN):c.[106531+2T>A];[107867delT]
NM_001267550.2(TTN):c.[14217A>C];[84105A>T]
NM_001267550.2(TTN):c.[32471-1G>A];[55732+5G>C]
NM_001267550.2(TTN):c.[39547+3A>G];[42151+1G>C]
NM_001267550.2(TTN):c.[42315_42318delGAAA];[67349-2A>C]
NM_001267550.2(TTN):c.[46387G>A];[75050T>C]
NM_001267550.2(TTN):c.[83315A>T];[91762G>A]

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