ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 115
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.18938G>C (p.Ser6313Thr) rs200120672 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.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.18307+12A>G rs376899412 0.00009
NM_001267550.2(TTN):c.18470T>C (p.Ile6157Thr) rs371882162 0.00009
NM_001267550.2(TTN):c.18653T>G (p.Leu6218Arg) rs727505193 0.00006
NM_001267550.2(TTN):c.18893T>C (p.Ile6298Thr) rs375571785 0.00006
NM_001267550.2(TTN):c.18267T>A (p.Asp6089Glu) rs754848806 0.00005
NM_001267550.2(TTN):c.18684T>C (p.Phe6228=) rs368427156 0.00005
NM_001267550.2(TTN):c.18778A>C (p.Lys6260Gln) rs375652574 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.18561G>A (p.Ala6187=) rs377556808 0.00004
NM_001267550.2(TTN):c.18628G>A (p.Val6210Ile) rs766360972 0.00004
NM_001267550.2(TTN):c.18655G>A (p.Glu6219Lys) rs72648948 0.00004
NM_001267550.2(TTN):c.18680C>T (p.Pro6227Leu) rs376846228 0.00004
NM_001267550.2(TTN):c.18646G>A (p.Val6216Met) rs369242073 0.00003
NM_001267550.2(TTN):c.18292A>G (p.Thr6098Ala) rs727505140 0.00002
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.18542G>A (p.Arg6181Gln) rs201951252 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.18720A>G (p.Arg6240=) rs201395913 0.00002
NM_001267550.2(TTN):c.18767T>G (p.Leu6256Arg) rs780526976 0.00002
NM_001267550.2(TTN):c.18777C>A (p.Thr6259=) rs750180579 0.00002
NM_001267550.2(TTN):c.18943G>A (p.Val6315Met) rs770552574 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.18377A>G (p.Glu6126Gly) rs1328808708 0.00001
NM_001267550.2(TTN):c.18426C>T (p.Asp6142=) rs1435792777 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.18586A>G (p.Lys6196Glu) rs756791385 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.18668C>T (p.Thr6223Met) rs794727817 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.18770A>G (p.His6257Arg) rs371299041 0.00001
NM_001267550.2(TTN):c.18782G>A (p.Cys6261Tyr) rs1060500581 0.00001
NM_001267550.2(TTN):c.18832G>A (p.Gly6278Ser) rs397517488 0.00001
NM_001267550.2(TTN):c.18151G>A (p.Glu6051Lys) rs532089368
NM_001267550.2(TTN):c.18197C>T (p.Ser6066Phe)
NM_001267550.2(TTN):c.18199A>G (p.Thr6067Ala)
NM_001267550.2(TTN):c.18208G>T (p.Glu6070Ter)
NM_001267550.2(TTN):c.18250T>C (p.Cys6084Arg) rs794729615
NM_001267550.2(TTN):c.18260G>A (p.Ser6087Asn)
NM_001267550.2(TTN):c.18265G>A (p.Asp6089Asn) rs560203827
NM_001267550.2(TTN):c.18307G>C (p.Glu6103Gln)
NM_001267550.2(TTN):c.18309A>G (p.Glu6103=) rs1560779799
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.18388A>T (p.Thr6130Ser) rs794727816
NM_001267550.2(TTN):c.18391_18394del (p.Gly6131fs) rs2154307613
NM_001267550.2(TTN):c.18411_18412insSVAelement
NM_001267550.2(TTN):c.18413C>A (p.Ser6138Tyr) rs727504477
NM_001267550.2(TTN):c.18442G>A (p.Ala6148Thr)
NM_001267550.2(TTN):c.18468C>T (p.Phe6156=) rs886043405
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.18521G>T (p.Gly6174Val)
NM_001267550.2(TTN):c.18529G>A (p.Val6177Met) rs1553921514
NM_001267550.2(TTN):c.18541C>T (p.Arg6181Ter)
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.18589G>A (p.Glu6197Lys)
NM_001267550.2(TTN):c.18590-9A>G
NM_001267550.2(TTN):c.18608G>T (p.Arg6203Ile)
NM_001267550.2(TTN):c.18611A>C (p.Glu6204Ala) rs199603451
NM_001267550.2(TTN):c.18626A>C (p.Glu6209Ala)
NM_001267550.2(TTN):c.18628del (p.Glu6209_Val6210insTer)
NM_001267550.2(TTN):c.18658T>G (p.Cys6220Gly) rs935844203
NM_001267550.2(TTN):c.18662A>G (p.Glu6221Gly)
NM_001267550.2(TTN):c.18669_18674del (p.Gly6224_Thr6225del) rs1553921067
NM_001267550.2(TTN):c.18670G>A (p.Gly6224Arg) rs2154307306
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.18704A>G (p.Asn6235Ser)
NM_001267550.2(TTN):c.18723C>G (p.Ser6241Arg) rs1015857991
NM_001267550.2(TTN):c.18736A>G (p.Thr6246Ala) rs1553920950
NM_001267550.2(TTN):c.18740T>G (p.Leu6247Trp)
NM_001267550.2(TTN):c.18781T>A (p.Cys6261Ser)
NM_001267550.2(TTN):c.18787C>T (p.Pro6263Ser)
NM_001267550.2(TTN):c.18802G>C (p.Glu6268Gln) rs794729616
NM_001267550.2(TTN):c.18813C>A (p.Cys6271Ter)
NM_001267550.2(TTN):c.18846C>G (p.Cys6282Trp)
NM_001267550.2(TTN):c.18848G>A (p.Ser6283Asn)
NM_001267550.2(TTN):c.18857T>C (p.Val6286Ala)
NM_001267550.2(TTN):c.18868+5G>C
NM_001267550.2(TTN):c.18868+6T>C rs2154307118
NM_001267550.2(TTN):c.18869-3C>T
NM_001267550.2(TTN):c.18872C>T (p.Pro6291Leu) rs2079914758
NM_001267550.2(TTN):c.18887A>G (p.Lys6296Arg) rs1553920476
NM_001267550.2(TTN):c.18890A>G (p.Lys6297Arg)
NM_001267550.2(TTN):c.18905C>T (p.Thr6302Ile)
NM_001267550.2(TTN):c.18923C>A (p.Ser6308Tyr)
NM_001267550.2(TTN):c.18950G>T (p.Gly6317Val) rs1060500522
NM_001267550.2(TTN):c.18966T>C (p.Ser6322=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.