ClinVar Miner

List of variants in gene LOC126806430, TTN studied for Cardiomyopathy

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.18903C>T (p.Thr6301=) rs72648950 0.01944
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser) rs72648949 0.00262
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser) rs184412722 0.00184
NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile) rs149131555 0.00180
NM_001267550.2(TTN):c.18961A>G (p.Ile6321Val) rs145204073 0.00146
NM_001267550.2(TTN):c.18325A>G (p.Lys6109Glu) rs73973139 0.00085
NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys) rs189127014 0.00053
NM_001267550.2(TTN):c.18407G>A (p.Arg6136Gln) rs117551279 0.00021
NM_001267550.2(TTN):c.18745G>A (p.Asp6249Asn) rs201263441 0.00021
NM_001267550.2(TTN):c.18816T>C (p.Ile6272=) rs146219199 0.00012
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly) rs370812788 0.00011
NM_001267550.2(TTN):c.18295C>T (p.Leu6099Phe) rs370109572 0.00010
NM_001267550.2(TTN):c.18561G>A (p.Ala6187=) rs377556808 0.00006
NM_001267550.2(TTN):c.18267T>A (p.Asp6089Glu) rs754848806 0.00003
NM_001267550.2(TTN):c.18260G>A (p.Ser6087Asn) rs1270956493 0.00001
NM_001267550.2(TTN):c.18618G>A (p.Lys6206=) rs1348113407 0.00001
NM_001267550.2(TTN):c.18309A>G (p.Glu6103=) rs1560779799
NM_001267550.2(TTN):c.18413C>A (p.Ser6138Tyr) rs727504477
NM_001267550.2(TTN):c.18590-9A>G rs2529938846
NM_001267550.2(TTN):c.18723C>G (p.Ser6241Arg) rs1015857991
NM_001267550.2(TTN):c.18927C>G (p.Ala6309=) rs370013727

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