ClinVar Miner

List of variants in gene combination LOC126806420, TTN reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.100096G>A (p.Val33366Ile) rs55675869 0.02155
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln) rs55742743 0.01280
NM_001267550.2(TTN):c.100059T>A (p.Ile33353=) rs56026369 0.00099
NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys) rs72648278 0.00038
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg) rs56061641 0.00022
NM_001267550.2(TTN):c.99969C>T (p.Ile33323=) rs375403439 0.00016
NM_001267550.2(TTN):c.99668G>A (p.Arg33223His) rs369081242 0.00008
NM_001267550.2(TTN):c.100257T>C (p.Asp33419=) rs727505046 0.00005
NM_001267550.2(TTN):c.100281C>T (p.Tyr33427=) rs373085562 0.00005
NM_001267550.2(TTN):c.99940C>T (p.Pro33314Ser) rs754605294 0.00005
NM_001267550.2(TTN):c.100047A>C (p.Thr33349=) rs727504698 0.00003
NM_001267550.2(TTN):c.100026_100030del (p.Ser33344fs) rs727503537
NM_001267550.2(TTN):c.100127_100151dup (p.Ile33385fs) rs1553503113
NM_001267550.2(TTN):c.100172-17dup rs397517782
NM_001267550.2(TTN):c.99810C>T (p.Val33270=) rs564536939
NM_001267550.2(TTN):c.99814C>T (p.Leu33272Phe) rs397517780
NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu) rs397517781
NM_001267550.2(TTN):c.99866-1G>A rs876657672

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