ClinVar Miner

List of variants in gene LOC126806425, TTN studied for autosomal recessive limb-girdle muscular dystrophy type 2J

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 177
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.52917T>C (p.Asp17639=) rs73036398 0.02352
NM_001267550.2(TTN):c.52821T>C (p.Asp17607=) rs2303831 0.02082
NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile) rs2303832 0.02072
NM_001267550.2(TTN):c.52706-17A>G rs72646807 0.01524
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr) rs72646809 0.01131
NM_001267550.2(TTN):c.53288-18G>T rs72646810 0.00643
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His) rs72646808 0.00118
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys) rs201213901 0.00115
NM_001267550.2(TTN):c.53055G>A (p.Met17685Ile) rs200387466 0.00074
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys) rs199615557 0.00034
NM_001267550.2(TTN):c.53287+6G>A rs149890360 0.00034
NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr) rs201358641 0.00031
NM_001267550.2(TTN):c.53226T>C (p.Tyr17742=) rs202200861 0.00028
NM_001267550.2(TTN):c.52656T>C (p.Pro17552=) rs371031259 0.00025
NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu) rs368820294 0.00019
NM_001267550.2(TTN):c.52853G>A (p.Arg17618His) rs371538664 0.00016
NM_001267550.2(TTN):c.53166C>T (p.Asn17722=) rs371730757 0.00013
NM_001267550.2(TTN):c.52702A>G (p.Ile17568Val) rs377571654 0.00011
NM_001267550.2(TTN):c.53012C>T (p.Ala17671Val) rs549478203 0.00009
NM_001267550.2(TTN):c.52890C>T (p.Thr17630=) rs374228930 0.00007
NM_001267550.2(TTN):c.53142T>C (p.Asp17714=) rs373316165 0.00007
NM_001267550.2(TTN):c.53002+10G>A rs370352450 0.00006
NM_001267550.2(TTN):c.53295T>C (p.Pro17765=) rs771792080 0.00006
NM_001267550.2(TTN):c.52659A>G (p.Gly17553=) rs779828473 0.00004
NM_001267550.2(TTN):c.52863G>A (p.Glu17621=) rs368606067 0.00004
NM_001267550.2(TTN):c.52908G>C (p.Glu17636Asp) rs748175453 0.00004
NM_001267550.2(TTN):c.53060G>T (p.Gly17687Val) rs780672348 0.00004
NM_001267550.2(TTN):c.53069T>C (p.Leu17690Pro) rs370469461 0.00004
NM_001267550.2(TTN):c.53213A>T (p.Asp17738Val) rs773447539 0.00004
NM_001267550.2(TTN):c.52589A>G (p.Asn17530Ser) rs762214300 0.00003
NM_001267550.2(TTN):c.52706C>A (p.Ser17569Tyr) rs756689649 0.00003
NM_001267550.2(TTN):c.52831G>A (p.Val17611Ile) rs748265704 0.00003
NM_001267550.2(TTN):c.52929G>A (p.Arg17643=) rs750808639 0.00003
NM_001267550.2(TTN):c.52962G>A (p.Pro17654=) rs773148195 0.00003
NM_001267550.2(TTN):c.53002+4C>G rs947716496 0.00003
NM_001267550.2(TTN):c.53100T>G (p.Pro17700=) rs373140387 0.00003
NM_001267550.2(TTN):c.52557C>T (p.Val17519=) rs397517610 0.00002
NM_001267550.2(TTN):c.52788T>A (p.Asn17596Lys) rs375966756 0.00002
NM_001267550.2(TTN):c.52880G>A (p.Arg17627His) rs536494011 0.00002
NM_001267550.2(TTN):c.53180C>G (p.Ser17727Cys) rs369262757 0.00002
NM_001267550.2(TTN):c.53261T>C (p.Phe17754Ser) rs749312983 0.00002
NM_001267550.2(TTN):c.52491T>C (p.Asn17497=) rs745494874 0.00001
NM_001267550.2(TTN):c.52526G>A (p.Arg17509His) rs886055267 0.00001
NM_001267550.2(TTN):c.52553G>A (p.Arg17518His) rs559590585 0.00001
NM_001267550.2(TTN):c.52595A>G (p.Asp17532Gly) rs1401966542 0.00001
NM_001267550.2(TTN):c.52596T>C (p.Asp17532=) rs761084280 0.00001
NM_001267550.2(TTN):c.52716G>A (p.Gly17572=) rs369877063 0.00001
NM_001267550.2(TTN):c.52854C>A (p.Arg17618=) rs899709298 0.00001
NM_001267550.2(TTN):c.52887C>T (p.Tyr17629=) rs940211628 0.00001
NM_001267550.2(TTN):c.52905A>G (p.Arg17635=) rs372908128 0.00001
NM_001267550.2(TTN):c.52920C>T (p.Tyr17640=) rs1553687219 0.00001
NM_001267550.2(TTN):c.52947C>T (p.Ala17649=) rs766991039 0.00001
NM_001267550.2(TTN):c.52948G>A (p.Ala17650Thr) rs535008556 0.00001
NM_001267550.2(TTN):c.52950A>G (p.Ala17650=) rs774191524 0.00001
NM_001267550.2(TTN):c.53002+9C>T rs374671774 0.00001
NM_001267550.2(TTN):c.53095C>T (p.Arg17699Cys) rs760963888 0.00001
NM_001267550.2(TTN):c.53127A>G (p.Glu17709=) rs2055198035 0.00001
NM_001267550.2(TTN):c.53149C>T (p.Arg17717Cys) rs369001587 0.00001
NM_001267550.2(TTN):c.53154T>C (p.Val17718=) rs990097785 0.00001
NM_001267550.2(TTN):c.53193C>T (p.Ile17731=) rs1375846477 0.00001
NM_001267550.2(TTN):c.53207G>A (p.Arg17736Gln) rs766817830 0.00001
NM_001267550.2(TTN):c.53229G>A (p.Val17743=) rs376469717 0.00001
NM_001267550.2(TTN):c.53246G>C (p.Ser17749Thr) rs1553686153 0.00001
NM_001267550.2(TTN):c.53260T>C (p.Phe17754Leu) rs397517612 0.00001
NM_001267550.2(TTN):c.53288-13G>T rs762229186 0.00001
NM_001267550.2(TTN):c.52499_52504delinsAGTAA (p.Pro17500_Leu17502delinsGlnTer) rs1559748217
NM_001267550.2(TTN):c.52504T>C (p.Leu17502=) rs2154197574
NM_001267550.2(TTN):c.52509T>G (p.Gly17503=)
NM_001267550.2(TTN):c.52512C>G (p.Tyr17504Ter) rs1559748120
NM_001267550.2(TTN):c.52518T>G (p.Leu17506=)
NM_001267550.2(TTN):c.52521A>G (p.Glu17507=)
NM_001267550.2(TTN):c.52524A>T (p.Lys17508Asn) rs1060500466
NM_001267550.2(TTN):c.52530_52535del (p.Glu17510_Asn17512delinsAsp) rs1553688489
NM_001267550.2(TTN):c.52536C>T (p.Asn17512=) rs199615557
NM_001267550.2(TTN):c.52545T>C (p.His17515=) rs766537771
NM_001267550.2(TTN):c.52546del (p.Trp17516fs)
NM_001267550.2(TTN):c.52551del (p.Arg17518fs)
NM_001267550.2(TTN):c.52567del (p.Leu17523fs)
NM_001267550.2(TTN):c.52569T>A (p.Leu17523=)
NM_001267550.2(TTN):c.52576_52603del (p.Asn17525_Ala17526insTer) rs1064792915
NM_001267550.2(TTN):c.52590T>C (p.Asn17530=) rs777245474
NM_001267550.2(TTN):c.52604T>G (p.Leu17535Ter)
NM_001267550.2(TTN):c.52607_52609del (p.Glu17536del) rs755947249
NM_001267550.2(TTN):c.52619A>G (p.Tyr17540Cys)
NM_001267550.2(TTN):c.52619_52620del (p.Tyr17540fs)
NM_001267550.2(TTN):c.52620T>C (p.Tyr17540=)
NM_001267550.2(TTN):c.52629A>G (p.Arg17543=) rs748001472
NM_001267550.2(TTN):c.52632A>G (p.Val17544=)
NM_001267550.2(TTN):c.52656T>A (p.Pro17552=) rs371031259
NM_001267550.2(TTN):c.52668T>C (p.Ser17556=) rs2154197457
NM_001267550.2(TTN):c.52671A>G (p.Pro17557=) rs377063235
NM_001267550.2(TTN):c.52671A>T (p.Pro17557=) rs377063235
NM_001267550.2(TTN):c.52683C>T (p.Pro17561=)
NM_001267550.2(TTN):c.52693C>G (p.His17565Asp) rs370126872
NM_001267550.2(TTN):c.52694_52695del (p.His17565fs)
NM_001267550.2(TTN):c.52705+15A>C
NM_001267550.2(TTN):c.52705+20G>A
NM_001267550.2(TTN):c.52706-11A>G
NM_001267550.2(TTN):c.52706-1G>C rs2055351447
NM_001267550.2(TTN):c.52706-1G>T
NM_001267550.2(TTN):c.52709C>T (p.Pro17570Leu) rs2055350149
NM_001267550.2(TTN):c.52731_52732del (p.Arg17577fs) rs878854315
NM_001267550.2(TTN):c.52736del (p.Thr17579fs) rs2154197312
NM_001267550.2(TTN):c.52746C>T (p.Ser17582=) rs761374387
NM_001267550.2(TTN):c.52767dup (p.Trp17590fs) rs2154197298
NM_001267550.2(TTN):c.52778del (p.Pro17593fs)
NM_001267550.2(TTN):c.52801del (p.Ile17601fs) rs2154197283
NM_001267550.2(TTN):c.52803T>C (p.Ile17601=)
NM_001267550.2(TTN):c.52818T>C (p.Val17606=)
NM_001267550.2(TTN):c.52825del (p.Gln17609fs) rs2055323171
NM_001267550.2(TTN):c.52833T>C (p.Val17611=) rs2154197266
NM_001267550.2(TTN):c.52842T>C (p.Asn17614=) rs2154197264
NM_001267550.2(TTN):c.52847G>A (p.Trp17616Ter) rs2055319182
NM_001267550.2(TTN):c.52859C>G (p.Thr17620Arg) rs1559743128
NM_001267550.2(TTN):c.52878C>A (p.Val17626=) rs775005179
NM_001267550.2(TTN):c.52878C>T (p.Val17626=) rs775005179
NM_001267550.2(TTN):c.52881T>C (p.Arg17627=) rs772763911
NM_001267550.2(TTN):c.52903C>T (p.Arg17635Ter) rs2154197219
NM_001267550.2(TTN):c.52924_52930dup (p.Val17644fs) rs2055292474
NM_001267550.2(TTN):c.52947C>G (p.Ala17649=) rs766991039
NM_001267550.2(TTN):c.52965T>C (p.Pro17655=)
NM_001267550.2(TTN):c.52975C>T (p.Gln17659Ter) rs2154197188
NM_001267550.2(TTN):c.52989G>A (p.Val17663=)
NM_001267550.2(TTN):c.53002+10G>T rs370352450
NM_001267550.2(TTN):c.53002+13A>G
NM_001267550.2(TTN):c.53002+18A>G
NM_001267550.2(TTN):c.53002+9C>A rs374671774
NM_001267550.2(TTN):c.53003-12C>A
NM_001267550.2(TTN):c.53003-15G>C
NM_001267550.2(TTN):c.53003-1G>C rs2154197076
NM_001267550.2(TTN):c.53003-6C>T
NM_001267550.2(TTN):c.53003-7T>C rs2055231136
NM_001267550.2(TTN):c.53004G>A (p.Glu17668=)
NM_001267550.2(TTN):c.53012_53030del (p.Ala17671fs)
NM_001267550.2(TTN):c.53020C>T (p.Leu17674=)
NM_001267550.2(TTN):c.53026_53027del (p.Val17676fs)
NM_001267550.2(TTN):c.53041G>T (p.Gly17681Ter)
NM_001267550.2(TTN):c.53047C>T (p.Gln17683Ter) rs2154197059
NM_001267550.2(TTN):c.53060G>A (p.Gly17687Glu) rs780672348
NM_001267550.2(TTN):c.53068_53069del (p.Thr17689_Leu17690insTer) rs2154197040
NM_001267550.2(TTN):c.53094T>A (p.Gly17698=)
NM_001267550.2(TTN):c.53100T>C (p.Pro17700=) rs373140387
NM_001267550.2(TTN):c.53109A>G (p.Thr17703=) rs2154197018
NM_001267550.2(TTN):c.53121C>G (p.Thr17707=)
NM_001267550.2(TTN):c.53122_53123delinsGT (p.Lys17708Val) rs886042743
NM_001267550.2(TTN):c.53139G>A (p.Leu17713=)
NM_001267550.2(TTN):c.53148C>T (p.Asp17716=) rs2055191623
NM_001267550.2(TTN):c.53151T>G (p.Arg17717=)
NM_001267550.2(TTN):c.53156T>C (p.Val17719Ala) rs564121832
NM_001267550.2(TTN):c.53182G>T (p.Glu17728Ter)
NM_001267550.2(TTN):c.53185C>T (p.Leu17729=) rs767559716
NM_001267550.2(TTN):c.53206C>A (p.Arg17736=) rs571702144
NM_001267550.2(TTN):c.53206C>T (p.Arg17736Ter) rs571702144
NM_001267550.2(TTN):c.53217T>C (p.His17739=)
NM_001267550.2(TTN):c.53229G>T (p.Val17743=) rs376469717
NM_001267550.2(TTN):c.53236G>A (p.Ala17746Thr) rs886055266
NM_001267550.2(TTN):c.53259del (p.Lys17753fs) rs1389777522
NM_001267550.2(TTN):c.53280A>G (p.Glu17760=)
NM_001267550.2(TTN):c.53287+10G>A
NM_001267550.2(TTN):c.53287+14C>T
NM_001267550.2(TTN):c.53287+1G>A rs1064794266
NM_001267550.2(TTN):c.53287+4A>C rs2055151641
NM_001267550.2(TTN):c.53287G>C (p.Asp17763His) rs2055154464
NM_001267550.2(TTN):c.53288-13G>A rs762229186
NM_001267550.2(TTN):c.53292C>T (p.Val17764=) rs1060503942
NM_001267550.2(TTN):c.53301A>T (p.Pro17767=) rs2154196840
NM_001267550.2(TTN):c.53315_53316del (p.Lys17772fs) rs2154196835
NM_001267550.2(TTN):c.53322T>G (p.Val17774=) rs886055265
NM_001267550.2(TTN):c.53328A>G (p.Thr17776=) rs1576360008
NM_001267550.2(TTN):c.53346A>G (p.Leu17782=) rs1434853063
NM_001267550.2(TTN):c.53348T>C (p.Leu17783Pro) rs777712545
NM_001267550.2(TTN):c.53354G>A (p.Trp17785Ter)
NM_001267550.2(TTN):c.53357C>A (p.Ser17786Tyr) rs1060500485
NM_001267550.2(TTN):c.53359del (p.Asp17787fs) rs2055103568
NM_001267550.2(TTN):c.53374G>T (p.Gly17792Ter) rs2055101555
NM_001267550.2(TTN):c.53382T>C (p.Ser17794=)
NM_001267550.2(TTN):c.53393del (p.Gly17798fs) rs794729324

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