ClinVar Miner

List of variants in gene LOC126806430, TTN studied for autosomal recessive disease

Included ClinVar conditions (1198):
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Gene type:
ClinVar version:
Total variants: 162
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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.18390A>T (p.Thr6130=) rs66523653 0.01518
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.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.18843A>G (p.Ser6281=) rs755958191 0.00013
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.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.18231C>T (p.Thr6077=) rs377639910 0.00006
NM_001267550.2(TTN):c.18432T>C (p.Asn6144=) rs749504085 0.00005
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.18297C>G (p.Leu6099=) rs764712226 0.00004
NM_001267550.2(TTN):c.18485C>T (p.Thr6162Ile) rs367685188 0.00004
NM_001267550.2(TTN):c.18528T>C (p.Tyr6176=) rs375408819 0.00004
NM_001267550.2(TTN):c.18561G>A (p.Ala6187=) rs377556808 0.00004
NM_001267550.2(TTN):c.18621T>G (p.Pro6207=) rs752324971 0.00004
NM_001267550.2(TTN):c.18655G>A (p.Glu6219Lys) rs72648948 0.00004
NM_001267550.2(TTN):c.18681G>A (p.Pro6227=) rs372273496 0.00004
NM_001267550.2(TTN):c.18719G>A (p.Arg6240Gln) rs761993856 0.00004
NM_001267550.2(TTN):c.18942C>T (p.Thr6314=) rs572285982 0.00004
NM_001267550.2(TTN):c.18363G>A (p.Gln6121=) rs375032616 0.00003
NM_001267550.2(TTN):c.18396T>C (p.Thr6132=) rs534008239 0.00003
NM_001267550.2(TTN):c.18510A>G (p.Val6170=) rs761425332 0.00003
NM_001267550.2(TTN):c.18590-14T>G rs781455893 0.00003
NM_001267550.2(TTN):c.18645C>T (p.Asp6215=) rs372400829 0.00003
NM_001267550.2(TTN):c.18646G>A (p.Val6216Met) rs369242073 0.00003
NM_001267550.2(TTN):c.18657G>A (p.Glu6219=) rs1282711943 0.00003
NM_001267550.2(TTN):c.18307+13C>T rs201930482 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.18549C>T (p.Asp6183=) rs200549353 0.00002
NM_001267550.2(TTN):c.18589+5G>A rs763752372 0.00002
NM_001267550.2(TTN):c.18609A>G (p.Arg6203=) rs777227340 0.00002
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.18869-16T>A rs369915523 0.00002
NM_001267550.2(TTN):c.18959C>A (p.Pro6320His) rs886246785 0.00002
NM_001267550.2(TTN):c.18150A>G (p.Lys6050=) rs991259759 0.00001
NM_001267550.2(TTN):c.18159C>T (p.His6053=) rs2080192781 0.00001
NM_001267550.2(TTN):c.18247A>G (p.Ile6083Val) rs374012753 0.00001
NM_001267550.2(TTN):c.18297C>T (p.Leu6099=) rs764712226 0.00001
NM_001267550.2(TTN):c.18308-17T>C rs1392151041 0.00001
NM_001267550.2(TTN):c.18308-8A>G rs754178580 0.00001
NM_001267550.2(TTN):c.18330G>A (p.Lys6110=) rs1350814757 0.00001
NM_001267550.2(TTN):c.18381C>T (p.Cys6127=) rs371610668 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.18456T>C (p.His6152=) rs756540833 0.00001
NM_001267550.2(TTN):c.18558G>A (p.Thr6186=) rs778145097 0.00001
NM_001267550.2(TTN):c.18560C>T (p.Ala6187Val) rs758380777 0.00001
NM_001267550.2(TTN):c.18589+18A>G rs752521286 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.18597C>A (p.Pro6199=) rs753370006 0.00001
NM_001267550.2(TTN):c.18600C>G (p.Thr6200=) rs1224786438 0.00001
NM_001267550.2(TTN):c.18618G>A (p.Lys6206=) rs1348113407 0.00001
NM_001267550.2(TTN):c.18669G>A (p.Thr6223=) rs772600691 0.00001
NM_001267550.2(TTN):c.18675A>G (p.Thr6225=) rs2080000865 0.00001
NM_001267550.2(TTN):c.18709A>T (p.Arg6237Trp) rs750368911 0.00001
NM_001267550.2(TTN):c.18717T>A (p.Ile6239=) rs765483284 0.00001
NM_001267550.2(TTN):c.18744C>T (p.Thr6248=) rs775965000 0.00001
NM_001267550.2(TTN):c.18782G>A (p.Cys6261Tyr) rs1060500581 0.00001
NM_001267550.2(TTN):c.18840C>T (p.Cys6280=) rs1329418633 0.00001
NM_001267550.2(TTN):c.18868+8A>T rs932365960 0.00001
NM_001267550.2(TTN):c.18869-11T>C rs1317638543 0.00001
NM_001267550.2(TTN):c.18870A>G (p.Glu6290=) rs777577096 0.00001
NM_001267550.2(TTN):c.18957T>C (p.Pro6319=) rs773018365 0.00001
NM_001267550.2(TTN):c.18144T>C (p.Asp6048=) rs2154308002
NM_001267550.2(TTN):c.18205C>T (p.Leu6069=)
NM_001267550.2(TTN):c.18207A>T (p.Leu6069=)
NM_001267550.2(TTN):c.18249T>C (p.Ile6083=) rs1057522780
NM_001267550.2(TTN):c.18258A>G (p.Leu6086=)
NM_001267550.2(TTN):c.18264T>C (p.Asn6088=) rs748182054
NM_001267550.2(TTN):c.18276A>G (p.Thr6092=) rs751657803
NM_001267550.2(TTN):c.18279A>T (p.Ala6093=)
NM_001267550.2(TTN):c.18303A>G (p.Val6101=) rs1334337532
NM_001267550.2(TTN):c.18303A>T (p.Val6101=)
NM_001267550.2(TTN):c.18307+14A>G
NM_001267550.2(TTN):c.18307+20T>G
NM_001267550.2(TTN):c.18307+2T>C rs2154307882
NM_001267550.2(TTN):c.18307+8C>T
NM_001267550.2(TTN):c.18308-16C>A rs2080100319
NM_001267550.2(TTN):c.18308-4T>A
NM_001267550.2(TTN):c.18308-4T>G
NM_001267550.2(TTN):c.18308-8A>T
NM_001267550.2(TTN):c.18317A>G (p.Gln6106Arg) rs1553921829
NM_001267550.2(TTN):c.18318A>G (p.Gln6106=)
NM_001267550.2(TTN):c.18348G>A (p.Val6116=)
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.18372A>G (p.Thr6124=)
NM_001267550.2(TTN):c.18406C>T (p.Arg6136Ter) rs2154307591
NM_001267550.2(TTN):c.18411_18412insSVAelement
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.18504C>T (p.Ala6168=)
NM_001267550.2(TTN):c.18516T>C (p.Asn6172=) rs1437976464
NM_001267550.2(TTN):c.18525T>G (p.Thr6175=)
NM_001267550.2(TTN):c.18552A>T (p.Ala6184=) rs2080057937
NM_001267550.2(TTN):c.18561G>C (p.Ala6187=)
NM_001267550.2(TTN):c.18570C>T (p.Ser6190=)
NM_001267550.2(TTN):c.18585G>A (p.Val6195=)
NM_001267550.2(TTN):c.18589+10T>G
NM_001267550.2(TTN):c.18589+11G>C rs2154307478
NM_001267550.2(TTN):c.18590-16C>A
NM_001267550.2(TTN):c.18590-19C>A
NM_001267550.2(TTN):c.18590-20T>C
NM_001267550.2(TTN):c.18590-4T>G rs2154307389
NM_001267550.2(TTN):c.18591A>G (p.Glu6197=) rs999871371
NM_001267550.2(TTN):c.18597C>T (p.Pro6199=) rs753370006
NM_001267550.2(TTN):c.18612G>A (p.Glu6204=) rs2154307365
NM_001267550.2(TTN):c.18630A>C (p.Val6210=) rs762940490
NM_001267550.2(TTN):c.18633A>T (p.Val6211=)
NM_001267550.2(TTN):c.18639T>C (p.Tyr6213=) rs1578138382
NM_001267550.2(TTN):c.18642T>C (p.Ser6214=)
NM_001267550.2(TTN):c.18654G>C (p.Leu6218=)
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.18678T>A (p.Pro6226=) rs777313455
NM_001267550.2(TTN):c.18690C>T (p.Val6230=) rs754536598
NM_001267550.2(TTN):c.18705T>C (p.Asn6235=) rs766055257
NM_001267550.2(TTN):c.18709_18710del (p.Arg6237fs)
NM_001267550.2(TTN):c.18714A>G (p.Glu6238=)
NM_001267550.2(TTN):c.18718C>T (p.Arg6240Ter)
NM_001267550.2(TTN):c.18720A>T (p.Arg6240=) rs201395913
NM_001267550.2(TTN):c.18735C>T (p.Tyr6245=)
NM_001267550.2(TTN):c.18736A>G (p.Thr6246Ala) rs1553920950
NM_001267550.2(TTN):c.18753G>A (p.Val6251=)
NM_001267550.2(TTN):c.18759G>A (p.Val6253=)
NM_001267550.2(TTN):c.18771T>C (p.His6257=)
NM_001267550.2(TTN):c.18791C>G (p.Ser6264Ter) rs2079975361
NM_001267550.2(TTN):c.18807C>T (p.Tyr6269=) rs189167196
NM_001267550.2(TTN):c.18810G>A (p.Gln6270=) rs727505012
NM_001267550.2(TTN):c.18831C>A (p.Gly6277=)
NM_001267550.2(TTN):c.18868+17G>T rs922396967
NM_001267550.2(TTN):c.18868+20G>A
NM_001267550.2(TTN):c.18869-14_18869-13del
NM_001267550.2(TTN):c.18869-16T>G
NM_001267550.2(TTN):c.18869-17C>G
NM_001267550.2(TTN):c.18869-8A>C
NM_001267550.2(TTN):c.18887A>G (p.Lys6296Arg) rs1553920476
NM_001267550.2(TTN):c.18927C>T (p.Ala6309=) rs370013727
NM_001267550.2(TTN):c.18930C>G (p.Thr6310=)
NM_001267550.2(TTN):c.18933T>C (p.Phe6311=)
NM_001267550.2(TTN):c.18942C>A (p.Thr6314=)
NM_001267550.2(TTN):c.18942C>G (p.Thr6314=) rs572285982
NM_001267550.2(TTN):c.18950G>T (p.Gly6317Val) rs1060500522
NM_001267550.2(TTN):c.18960T>C (p.Pro6320=)

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