ClinVar Miner

List of variants in gene TTN reported as likely benign for Tibial muscular dystrophy

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Gene type:
ClinVar version:
Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.6727G>T (p.Asp2243Tyr) rs138787974 0.00778
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln) rs72650034 0.00093
NM_001267550.2(TTN):c.47767G>A (p.Gly15923Arg) rs371943746 0.00046
NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys) rs202064385 0.00030
NM_001267550.2(TTN):c.2686G>A (p.Val896Ile) rs376768790 0.00029
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala) rs34706299 0.00027
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser) rs146057575 0.00025
NM_001267550.2(TTN):c.48461-11A>G rs371040291 0.00024
NM_001267550.2(TTN):c.101262A>G (p.Gly33754=) rs374878689 0.00019
NM_001267550.2(TTN):c.40581A>G (p.Glu13527=) rs775954427 0.00018
NM_001267550.2(TTN):c.63626G>A (p.Arg21209Gln) rs148684589 0.00016
NM_001267550.2(TTN):c.75490G>A (p.Asp25164Asn) rs192468365 0.00014
NM_001267550.2(TTN):c.106837T>G (p.Ser35613Ala) rs374405802 0.00013
NM_001267550.2(TTN):c.33059A>G (p.Tyr11020Cys) rs72650035 0.00013
NM_001267550.2(TTN):c.71883T>C (p.Val23961=) rs368692510 0.00013
NM_001267550.2(TTN):c.82981C>T (p.Pro27661Ser) rs201422612 0.00013
NM_001267550.2(TTN):c.92333C>G (p.Thr30778Arg) rs201019681 0.00013
NM_001267550.2(TTN):c.102156G>T (p.Arg34052=) rs376894729 0.00012
NM_001267550.2(TTN):c.5198C>T (p.Thr1733Met) rs367700246 0.00012
NM_001267550.2(TTN):c.71373T>G (p.Leu23791=) rs56245285 0.00012
NM_001267550.2(TTN):c.50858-3C>T rs587782987 0.00011
NM_001267550.2(TTN):c.51712C>T (p.Pro17238Ser) rs773035917 0.00011
NM_001267550.2(TTN):c.54078A>T (p.Ala18026=) rs747908048 0.00011
NM_001267550.2(TTN):c.76673A>T (p.Asp25558Val) rs201095164 0.00011
NM_001267550.2(TTN):c.98809A>G (p.Lys32937Glu) rs200544701 0.00011
NM_133379.5(TTN):c.16001C>T (p.Pro5334Leu) rs151253841 0.00010
NM_001267550.2(TTN):c.1585G>A (p.Ala529Thr) rs143030869 0.00009
NM_001267550.2(TTN):c.29317G>A (p.Ala9773Thr) rs371163094 0.00009
NM_001267550.2(TTN):c.44734C>T (p.His14912Tyr) rs766391823 0.00009
NM_001267550.2(TTN):c.54109C>T (p.Arg18037Trp) rs201623791 0.00009
NM_001267550.2(TTN):c.78906A>C (p.Glu26302Asp) rs534003014 0.00009
NM_001267550.2(TTN):c.88285A>G (p.Ile29429Val) rs373738818 0.00009
NM_001267550.2(TTN):c.54631C>A (p.Pro18211Thr) rs727504192 0.00008
NM_001267550.2(TTN):c.55396G>A (p.Gly18466Arg) rs772677752 0.00008
NM_001267550.2(TTN):c.95320A>G (p.Lys31774Glu) rs762265902 0.00008
NM_001267550.2(TTN):c.72226T>G (p.Leu24076Val) rs202098308 0.00007
NM_001267550.2(TTN):c.101890C>A (p.Arg33964Ser) rs779064623 0.00006
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met) rs368282893 0.00006
NM_001267550.2(TTN):c.48595T>C (p.Ser16199Pro) rs752629624 0.00006
NM_001267550.2(TTN):c.5073A>T (p.Glu1691Asp) rs770902874 0.00006
NM_001267550.2(TTN):c.52139A>T (p.Asp17380Val) rs373305248 0.00006
NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val) rs397517630 0.00006
NM_001267550.2(TTN):c.60343G>A (p.Asp20115Asn) rs369893671 0.00006
NM_001267550.2(TTN):c.61592G>A (p.Arg20531His) rs370887455 0.00006
NM_001267550.2(TTN):c.61696G>A (p.Val20566Ile) rs764777213 0.00006
NM_001267550.2(TTN):c.63877G>A (p.Asp21293Asn) rs199505416 0.00006
NM_001267550.2(TTN):c.6713C>T (p.Thr2238Met) rs201284459 0.00006
NM_001267550.2(TTN):c.97643G>A (p.Arg32548His) rs55676195 0.00006
NM_001267550.2(TTN):c.20354C>T (p.Ser6785Leu) rs201586695 0.00005
NM_001267550.2(TTN):c.24114C>T (p.Asn8038=) rs199576800 0.00005
NM_001267550.2(TTN):c.30230C>T (p.Pro10077Leu) rs374075627 0.00005
NM_001267550.2(TTN):c.43161G>A (p.Glu14387=) rs765214404 0.00005
NM_001267550.2(TTN):c.67104A>C (p.Lys22368Asn) rs727503577 0.00005
NM_001267550.2(TTN):c.86983G>A (p.Ala28995Thr) rs774191975 0.00005
NM_001267550.2(TTN):c.106876T>G (p.Leu35626Val) rs373152640 0.00004
NM_001267550.2(TTN):c.15831C>T (p.Pro5277=) rs780784090 0.00004
NM_001267550.2(TTN):c.24769C>G (p.Leu8257Val) rs371322658 0.00004
NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys) rs375266859 0.00004
NM_001267550.2(TTN):c.54348A>T (p.Glu18116Asp) rs773746281 0.00004
NM_001267550.2(TTN):c.62673T>C (p.Asp20891=) rs374354363 0.00004
NM_001267550.2(TTN):c.67210G>A (p.Val22404Met) rs369257896 0.00004
NM_001267550.2(TTN):c.78774A>G (p.Arg26258=) rs368270588 0.00004
NM_001267550.2(TTN):c.79155G>A (p.Val26385=) rs377618488 0.00004
NM_001267550.2(TTN):c.80586C>T (p.Ser26862=) rs748292845 0.00004
NM_001267550.2(TTN):c.80941C>T (p.Arg26981Trp) rs779878975 0.00004
NC_000002.12:g.178605717T>C rs772324772 0.00003
NM_001267550.2(TTN):c.105374C>T (p.Thr35125Met) rs747161494 0.00003
NM_001267550.2(TTN):c.49395C>T (p.Asp16465=) rs749308557 0.00003
NM_001267550.2(TTN):c.55619T>C (p.Val18540Ala) rs779623773 0.00003
NM_001267550.2(TTN):c.56403A>G (p.Gln18801=) rs553313488 0.00003
NM_001267550.2(TTN):c.62611C>G (p.Leu20871Val) rs767670018 0.00003
NM_001267550.2(TTN):c.62703A>G (p.Leu20901=) rs749180542 0.00003
NM_001267550.2(TTN):c.6322G>A (p.Glu2108Lys) rs762999586 0.00003
NM_001267550.2(TTN):c.64195G>A (p.Asp21399Asn) rs749018114 0.00003
NM_001267550.2(TTN):c.74961C>T (p.Asn24987=) rs754043680 0.00003
NM_001267550.2(TTN):c.78401G>A (p.Arg26134His) rs377668457 0.00003
NM_001267550.2(TTN):c.94075G>A (p.Val31359Ile) rs780436747 0.00003
NM_001267550.2(TTN):c.95557C>T (p.Arg31853Cys) rs727503542 0.00003
NM_001267550.2(TTN):c.106293T>C (p.Val35431=) rs749108651 0.00002
NM_001267550.2(TTN):c.16391G>C (p.Gly5464Ala) rs377023302 0.00002
NM_001267550.2(TTN):c.28185C>G (p.Asn9395Lys) rs778573156 0.00002
NM_001267550.2(TTN):c.64238A>G (p.Asp21413Gly) rs375659466 0.00002
NM_001267550.2(TTN):c.732C>T (p.Ala244=) rs761859812 0.00002
NM_001267550.2(TTN):c.87650G>A (p.Arg29217His) rs749606240 0.00002
NM_001267550.2(TTN):c.9267G>A (p.Gln3089=) rs764189986 0.00002
NM_001267550.2(TTN):c.95873G>A (p.Arg31958Gln) rs763270971 0.00002
NM_001267550.2(TTN):c.104979G>A (p.Thr34993=) rs775644738 0.00001
NM_001267550.2(TTN):c.106343G>A (p.Arg35448Gln) rs369703073 0.00001
NM_001267550.2(TTN):c.26350T>C (p.Trp8784Arg) rs375067750 0.00001
NM_001267550.2(TTN):c.30682+7T>C rs752353097 0.00001
NM_001267550.2(TTN):c.3242C>T (p.Ala1081Val) rs528216574 0.00001
NM_001267550.2(TTN):c.32571G>T (p.Lys10857Asn) rs370317568 0.00001
NM_001267550.2(TTN):c.34601T>C (p.Leu11534Pro) rs376836503 0.00001
NM_001267550.2(TTN):c.47402C>T (p.Thr15801Ile) rs148808516 0.00001
NM_001267550.2(TTN):c.48099T>C (p.Tyr16033=) rs760816246 0.00001
NM_001267550.2(TTN):c.55291G>A (p.Glu18431Lys) rs756341923 0.00001
NM_001267550.2(TTN):c.75158G>C (p.Trp25053Ser) rs748412838 0.00001
NM_001267550.2(TTN):c.77649C>T (p.Ile25883=) rs747430905 0.00001
NM_001267550.2(TTN):c.81523G>A (p.Gly27175Ser) rs749305586 0.00001
NM_001267550.2(TTN):c.82732A>G (p.Lys27578Glu) rs368850871 0.00001
NM_001267550.2(TTN):c.83985C>T (p.Asn27995=) rs766611189 0.00001
NM_001267550.2(TTN):c.84443C>G (p.Ala28148Gly) rs751860205 0.00001
NM_001267550.2(TTN):c.91879A>G (p.Ile30627Val) rs535151633 0.00001
NM_001267550.2(TTN):c.98743A>G (p.Ser32915Gly) rs760917372 0.00001
NM_001267550.2(TTN):c.99154C>T (p.Arg33052Cys) rs758109676 0.00001
NM_001267550.2(TTN):c.*99dup rs11424072
NM_001267550.2(TTN):c.26762-39TTTGT[7] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[8] rs71393436
NM_001267550.2(TTN):c.30683-28_30683-16del rs764830728
NM_001267550.2(TTN):c.31548G>A (p.Glu10516=) rs777887659
NM_001267550.2(TTN):c.31756C>G (p.Pro10586Ala) rs768652249
NM_001267550.2(TTN):c.34696G>T (p.Ala11566Ser) rs556948427
NM_001267550.2(TTN):c.61370A>C (p.Glu20457Ala) rs541930965
NM_001267550.2(TTN):c.66772C>T (p.Pro22258Ser) rs781220405
NM_001267550.2(TTN):c.83281G>C (p.Val27761Leu) rs371788070
NM_001267550.2(TTN):c.87329C>T (p.Ala29110Val) rs763682832
NM_133378.4(TTN):c.26780-19dup rs397517532

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