ClinVar Miner

List of variants in gene LOC126806420, TTN studied for autosomal recessive disease

Included ClinVar conditions (1198):
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Gene type:
ClinVar version:
Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.100096G>A (p.Val33366Ile) rs55675869 0.02132
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln) rs55742743 0.01280
NM_001267550.2(TTN):c.100059T>A (p.Ile33353=) rs56026369 0.00099
NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys) rs72648278 0.00041
NM_001267550.2(TTN):c.99866-10C>T rs773128928 0.00034
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg) rs56061641 0.00022
NM_001267550.2(TTN):c.100295G>A (p.Arg33432His) rs374876608 0.00019
NM_001267550.2(TTN):c.100049C>T (p.Thr33350Ile) rs370300135 0.00016
NM_001267550.2(TTN):c.99969C>T (p.Ile33323=) rs375403439 0.00016
NM_001267550.2(TTN):c.100226G>A (p.Cys33409Tyr) rs201112096 0.00011
NM_001267550.2(TTN):c.99946G>A (p.Ala33316Thr) rs374295768 0.00011
NM_001267550.2(TTN):c.100058T>C (p.Ile33353Thr) rs138234724 0.00010
NM_001267550.2(TTN):c.99865+13T>A rs572802873 0.00010
NM_001267550.2(TTN):c.99660C>T (p.Tyr33220=) rs763539794 0.00009
NM_001267550.2(TTN):c.100315T>C (p.Trp33439Arg) rs545443009 0.00006
NM_001267550.2(TTN):c.100257T>C (p.Asp33419=) rs727505046 0.00005
NM_001267550.2(TTN):c.100281C>T (p.Tyr33427=) rs373085562 0.00005
NM_001267550.2(TTN):c.99922G>A (p.Ala33308Thr) rs201226974 0.00005
NM_001267550.2(TTN):c.100163G>A (p.Ser33388Asn) rs745406517 0.00004
NM_001267550.2(TTN):c.100116C>T (p.Phe33372=) rs770089807 0.00003
NM_001267550.2(TTN):c.100284C>T (p.Tyr33428=) rs1440086089 0.00003
NM_001267550.2(TTN):c.99752A>G (p.Tyr33251Cys) rs377456237 0.00003
NM_001267550.2(TTN):c.99840T>C (p.Asp33280=) rs375178211 0.00003
NM_001267550.2(TTN):c.100018C>A (p.Gln33340Lys) rs558954116 0.00002
NM_001267550.2(TTN):c.100047A>C (p.Thr33349=) rs727504698 0.00002
NM_001267550.2(TTN):c.100117G>A (p.Gly33373Ser) rs55880786 0.00002
NM_001267550.2(TTN):c.99861A>G (p.Ile33287Met) rs758948672 0.00002
NM_001267550.2(TTN):c.99921C>T (p.Ser33307=) rs779347462 0.00002
NM_001267550.2(TTN):c.99945C>T (p.Pro33315=) rs751111629 0.00002
NM_001267550.2(TTN):c.100020A>G (p.Gln33340=) rs375614764 0.00001
NM_001267550.2(TTN):c.100167A>G (p.Pro33389=) rs778478048 0.00001
NM_001267550.2(TTN):c.100197A>G (p.Pro33399=) rs1434554684 0.00001
NM_001267550.2(TTN):c.100204A>G (p.Thr33402Ala) rs777018654 0.00001
NM_001267550.2(TTN):c.100359A>C (p.Ser33453=) rs1483003625 0.00001
NM_001267550.2(TTN):c.99702G>A (p.Gln33234=) rs185925881 0.00001
NM_001267550.2(TTN):c.99753T>C (p.Tyr33251=) rs781103653 0.00001
NM_001267550.2(TTN):c.99774T>C (p.Asn33258=) rs758792040 0.00001
NM_001267550.2(TTN):c.99836T>G (p.Val33279Gly) rs770098799 0.00001
NM_001267550.2(TTN):c.99900C>T (p.Ile33300=) rs747130957 0.00001
NM_001267550.2(TTN):c.99909A>G (p.Leu33303=) rs878926568 0.00001
NM_001267550.2(TTN):c.99913A>G (p.Lys33305Glu) rs1553503789 0.00001
NM_001267550.2(TTN):c.99927G>C (p.Val33309=) rs752424641 0.00001
NM_001267550.2(TTN):c.99954C>T (p.Asp33318=) rs765089470 0.00001
NM_001267550.2(TTN):c.99990A>G (p.Lys33330=) rs749702063 0.00001
NM_001267550.2(TTN):c.99996G>A (p.Glu33332=) rs754693509 0.00001
NM_001267550.2(TTN):c.100018_100022dup (p.Leu33341fs)
NM_001267550.2(TTN):c.100021T>C (p.Leu33341=) rs2154137977
NM_001267550.2(TTN):c.100026_100030del (p.Ser33344fs) rs727503537
NM_001267550.2(TTN):c.100044G>A (p.Val33348=) rs56080118
NM_001267550.2(TTN):c.100059T>C (p.Ile33353=)
NM_001267550.2(TTN):c.100060G>C (p.Val33354Leu) rs879221791
NM_001267550.2(TTN):c.100065C>T (p.Asn33355=)
NM_001267550.2(TTN):c.100105C>T (p.Gln33369Ter) rs1553503201
NM_001267550.2(TTN):c.100112del (p.Thr33371fs)
NM_001267550.2(TTN):c.100122C>A (p.Ile33374=) rs779537238
NM_001267550.2(TTN):c.100127_100151dup (p.Ile33385fs) rs1553503113
NM_001267550.2(TTN):c.100131T>G (p.Pro33377=) rs1240151281
NM_001267550.2(TTN):c.100133T>G (p.Leu33378Arg) rs1060500454
NM_001267550.2(TTN):c.100135G>T (p.Glu33379Ter) rs1691881913
NM_001267550.2(TTN):c.100161del (p.Ser33388fs)
NM_001267550.2(TTN):c.100169_100170del (p.Pro33389_Phe33390insTer)
NM_001267550.2(TTN):c.100171+16T>C
NM_001267550.2(TTN):c.100171+16_100171+17insA rs2154137874
NM_001267550.2(TTN):c.100171+1_100171+2insAAGAGTCCATTTGGAGGCAGGAAAATCGCTTCAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCACCCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
NM_001267550.2(TTN):c.100171+3G>A
NM_001267550.2(TTN):c.100171+7A>G rs2154137886
NM_001267550.2(TTN):c.100171+9_100171+11del
NM_001267550.2(TTN):c.100172-10del rs397517782
NM_001267550.2(TTN):c.100172-17dup rs397517782
NM_001267550.2(TTN):c.100172-18C>G
NM_001267550.2(TTN):c.100172-1G>C rs2154137558
NM_001267550.2(TTN):c.100172-3T>C rs1312922352
NM_001267550.2(TTN):c.100172-9_100172-7del
NM_001267550.2(TTN):c.100185T>C (p.Ala33395=) rs2154137549
NM_001267550.2(TTN):c.100194A>T (p.Lys33398Asn) rs1060500553
NM_001267550.2(TTN):c.100200T>G (p.Thr33400=)
NM_001267550.2(TTN):c.100201_100205del (p.Ile33401fs)
NM_001267550.2(TTN):c.100209T>C (p.Ala33403=)
NM_001267550.2(TTN):c.100229_100233del (p.Val33410fs)
NM_001267550.2(TTN):c.100244C>T (p.Pro33415Leu) rs72648282
NM_001267550.2(TTN):c.100248T>C (p.Pro33416=)
NM_001267550.2(TTN):c.100287T>C (p.Leu33429=)
NM_001267550.2(TTN):c.100299G>A (p.Glu33433=) rs879015914
NM_001267550.2(TTN):c.100325del (p.Val33442fs) rs1691525574
NM_001267550.2(TTN):c.100335A>G (p.Glu33445=) rs770586154
NM_001267550.2(TTN):c.100341T>C (p.Ile33447=)
NM_001267550.2(TTN):c.100342C>T (p.Arg33448Ter)
NM_001267550.2(TTN):c.100362G>A (p.Val33454=)
NM_001267550.2(TTN):c.100367_100368insGA (p.Asn33456fs)
NM_001267550.2(TTN):c.100367_100368insT (p.Leu33457fs) rs2154137420
NM_001267550.2(TTN):c.100367del (p.Asn33456fs) rs2154137422
NM_001267550.2(TTN):c.100369del (p.Ile33458fs) rs2154137417
NM_001267550.2(TTN):c.99631G>A (p.Gly33211Ser) rs1553504771
NM_001267550.2(TTN):c.99636C>G (p.Ser33212=) rs1575326710
NM_001267550.2(TTN):c.99636C>T (p.Ser33212=)
NM_001267550.2(TTN):c.99639A>G (p.Thr33213=) rs755522463
NM_001267550.2(TTN):c.99667C>T (p.Arg33223Cys)
NM_001267550.2(TTN):c.99681C>G (p.Ala33227=)
NM_001267550.2(TTN):c.99693C>T (p.Phe33231=) rs2154138294
NM_001267550.2(TTN):c.99696T>C (p.His33232=)
NM_001267550.2(TTN):c.99709T>C (p.Leu33237=) rs879202597
NM_001267550.2(TTN):c.99719C>G (p.Ser33240Ter) rs794727539
NM_001267550.2(TTN):c.99727A>G (p.Ile33243Val) rs1553504488
NM_001267550.2(TTN):c.99756T>G (p.Thr33252=)
NM_001267550.2(TTN):c.99765C>T (p.Val33255=) rs1060503965
NM_001267550.2(TTN):c.99774T>A (p.Asn33258Lys) rs758792040
NM_001267550.2(TTN):c.99783dup (p.Lys33262Ter) rs1575324979
NM_001267550.2(TTN):c.99786_99790del (p.Thr33263fs) rs2154138232
NM_001267550.2(TTN):c.99789T>A (p.Thr33263=) rs574923385
NM_001267550.2(TTN):c.99797_99800dup (p.Tyr33268fs)
NM_001267550.2(TTN):c.99804C>T (p.Tyr33268=) rs2154138223
NM_001267550.2(TTN):c.99810C>A (p.Val33270=) rs564536939
NM_001267550.2(TTN):c.99810C>T (p.Val33270=) rs564536939
NM_001267550.2(TTN):c.99814C>T (p.Leu33272Phe) rs397517780
NM_001267550.2(TTN):c.99816C>G (p.Leu33272=)
NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu) rs397517781
NM_001267550.2(TTN):c.99853_99854insGGGAAATACAAATTCCAGCTCAGCAATGTTTTTGGAACAGTTGATGCCATCCTTGATG (p.Val33285delinsGlyGluIleGlnIleProAlaGlnGlnCysPheTrpAsnSerTer)
NM_001267550.2(TTN):c.99865+1G>T
NM_001267550.2(TTN):c.99865+3A>T rs1692081223
NM_001267550.2(TTN):c.99874del (p.Asp33292fs)
NM_001267550.2(TTN):c.99879A>G (p.Lys33293=)
NM_001267550.2(TTN):c.99903A>G (p.Glu33301=) rs886055227
NM_001267550.2(TTN):c.99906_99916del (p.Leu33304fs)
NM_001267550.2(TTN):c.99910T>C (p.Leu33304=) rs1162207200
NM_001267550.2(TTN):c.99933C>T (p.Ser33311=) rs780775160
NM_001267550.2(TTN):c.99935G>A (p.Trp33312Ter) rs2154138051
NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys) rs775769503
NM_001267550.2(TTN):c.99975C>T (p.Asn33325=)
NM_001267550.2(TTN):c.99978T>C (p.Tyr33326=) rs1280421729

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