ClinVar Miner

List of variants in gene combination LOC126806430, TTN reported by Eurofins Ntd Llc (ga)

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.18903C>T (p.Thr6301=) rs72648950 0.01956
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser) rs72648949 0.00262
NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser) rs191692293 0.00188
NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile) rs149131555 0.00184
NM_001267550.2(TTN):c.18961A>G (p.Ile6321Val) rs145204073 0.00146
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser) rs184412722 0.00111
NM_001267550.2(TTN):c.18325A>G (p.Lys6109Glu) rs73973139 0.00096
NM_001267550.2(TTN):c.18531G>C (p.Val6177=) rs370684491 0.00088
NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys) rs189127014 0.00053
NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr) rs72648947 0.00046
NM_001267550.2(TTN):c.18745G>A (p.Asp6249Asn) rs201263441 0.00021
NM_001267550.2(TTN):c.18407G>A (p.Arg6136Gln) rs117551279 0.00016
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.18557C>T (p.Thr6186Met) rs200359082 0.00010
NM_001267550.2(TTN):c.18663A>C (p.Glu6221Asp) rs369544339 0.00010
NM_001267550.2(TTN):c.18561G>A (p.Ala6187=) rs377556808 0.00004
NM_001267550.2(TTN):c.18655G>A (p.Glu6219Lys) rs72648948 0.00004
NM_001267550.2(TTN):c.18646G>A (p.Val6216Met) rs369242073 0.00003
NM_001267550.2(TTN):c.18720A>G (p.Arg6240=) rs201395913 0.00002
NM_001267550.2(TTN):c.18777C>A (p.Thr6259=) rs750180579 0.00002
NM_001267550.2(TTN):c.18426C>T (p.Asp6142=) rs1435792777 0.00001
NM_001267550.2(TTN):c.18668C>T (p.Thr6223Met) rs794727817 0.00001
NM_001267550.2(TTN):c.18669G>A (p.Thr6223=) rs772600691 0.00001
NM_001267550.2(TTN):c.18388A>T (p.Thr6130Ser) rs794727816
NM_001267550.2(TTN):c.18468C>T (p.Phe6156=) rs886043405
NM_001267550.2(TTN):c.18529G>A (p.Val6177Met) rs1553921514
NM_001267550.2(TTN):c.18552_18558delinsT (p.Gly6185_Thr6186del) rs1553921461
NM_001267550.2(TTN):c.18554_18559del (p.Gly6185_Thr6186del) rs1553921454
NM_001267550.2(TTN):c.18669_18674del (p.Gly6224_Thr6225del) rs1553921067
NM_001267550.2(TTN):c.18673A>G (p.Thr6225Ala) rs794727818

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