ClinVar Miner

List of variants in gene combination LOC126806430, TTN reported as uncertain significance for congenital myopathy

Included ClinVar conditions (317):
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Gene type:
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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser) rs72648949 0.00262
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.18325A>G (p.Lys6109Glu) rs73973139 0.00096
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.18663A>C (p.Glu6221Asp) rs369544339 0.00010
NM_001267550.2(TTN):c.18307+12A>G rs376899412 0.00009
NM_001267550.2(TTN):c.18470T>C (p.Ile6157Thr) rs371882162 0.00009
NM_001267550.2(TTN):c.18684T>C (p.Phe6228=) rs368427156 0.00005
NM_001267550.2(TTN):c.18173G>A (p.Arg6058His) rs376012117 0.00004
NM_001267550.2(TTN):c.18485C>T (p.Thr6162Ile) rs367685188 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.18374T>C (p.Phe6125Ser) rs375003845 0.00002
NM_001267550.2(TTN):c.18427G>A (p.Gly6143Arg) rs757453585 0.00002
NM_001267550.2(TTN):c.18549C>T (p.Asp6183=) rs200549353 0.00002
NM_001267550.2(TTN):c.18589+5G>A rs763752372 0.00002
NM_001267550.2(TTN):c.18959C>A (p.Pro6320His) rs886246785 0.00002
NM_001267550.2(TTN):c.18247A>G (p.Ile6083Val) rs374012753 0.00001
NM_001267550.2(TTN):c.18445A>G (p.Ile6149Val) rs368897297 0.00001
NM_001267550.2(TTN):c.18560C>T (p.Ala6187Val) rs758380777 0.00001
NM_001267550.2(TTN):c.18589+4C>T rs1449021840 0.00001
NM_001267550.2(TTN):c.18589G>C (p.Glu6197Gln) rs753281535 0.00001
NM_001267550.2(TTN):c.18669G>A (p.Thr6223=) rs772600691 0.00001
NM_001267550.2(TTN):c.18709A>T (p.Arg6237Trp) rs750368911 0.00001
NM_001267550.2(TTN):c.18782G>A (p.Cys6261Tyr) rs1060500581 0.00001
NM_001267550.2(TTN):c.18307G>C (p.Glu6103Gln)
NM_001267550.2(TTN):c.18317A>G (p.Gln6106Arg) rs1553921829
NM_001267550.2(TTN):c.18325A>T (p.Lys6109Ter)
NM_001267550.2(TTN):c.18364T>C (p.Ser6122Pro) rs2080087332
NM_001267550.2(TTN):c.18371C>A (p.Thr6124Lys) rs1280788914
NM_001267550.2(TTN):c.18391_18394del (p.Gly6131fs) rs2154307613
NM_001267550.2(TTN):c.18411_18412insSVAelement
NM_001267550.2(TTN):c.18472G>A (p.Asp6158Asn) rs2080068286
NM_001267550.2(TTN):c.18493A>G (p.Ile6165Val) rs886055296
NM_001267550.2(TTN):c.18589G>A (p.Glu6197Lys)
NM_001267550.2(TTN):c.18673A>G (p.Thr6225Ala) rs794727818
NM_001267550.2(TTN):c.18677C>A (p.Pro6226His) rs746345160
NM_001267550.2(TTN):c.18690C>T (p.Val6230=) rs754536598
NM_001267550.2(TTN):c.18736A>G (p.Thr6246Ala) rs1553920950
NM_001267550.2(TTN):c.18868+5G>C
NM_001267550.2(TTN):c.18887A>G (p.Lys6296Arg) rs1553920476
NM_001267550.2(TTN):c.18950G>T (p.Gly6317Val) rs1060500522

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