ClinVar Miner

List of variants in gene LOC129935183, 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: 127
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.105582C>T (p.Ser35194=) rs3829749 0.05620
NM_001267550.2(TTN):c.105782C>T (p.Pro35261Leu) rs16866380 0.04073
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys) rs56324595 0.01363
NM_001267550.2(TTN):c.105787G>T (p.Ala35263Ser) rs67254537 0.01080
NM_001267550.2(TTN):c.105788C>T (p.Ala35263Val) rs66961115 0.01079
NM_001267550.2(TTN):c.105920T>C (p.Val35307Ala) rs780629996 0.00019
NM_001267550.2(TTN):c.105940G>A (p.Ala35314Thr) rs377171054 0.00011
NM_001267550.2(TTN):c.105876G>A (p.Leu35292=) rs372521529 0.00010
NM_001267550.2(TTN):c.105755G>A (p.Arg35252Gln) rs368151146 0.00009
NM_001267550.2(TTN):c.105737C>G (p.Ala35246Gly) rs370476812 0.00008
NM_001267550.2(TTN):c.105757G>A (p.Val35253Met) rs373655492 0.00008
NM_001267550.2(TTN):c.105608T>C (p.Val35203Ala) rs771136390 0.00004
NM_001267550.2(TTN):c.105719G>A (p.Arg35240Gln) rs530537991 0.00004
NM_001267550.2(TTN):c.105590G>A (p.Gly35197Asp) rs397517796 0.00003
NM_001267550.2(TTN):c.105642C>A (p.Phe35214Leu) rs560557634 0.00003
NM_001267550.2(TTN):c.105813A>C (p.Pro35271=) rs777268739 0.00003
NM_001267550.2(TTN):c.105625A>C (p.Lys35209Gln) rs56365812 0.00002
NM_001267550.2(TTN):c.105653T>C (p.Ile35218Thr) rs143499441 0.00002
NM_001267550.2(TTN):c.105916G>A (p.Val35306Met) rs1434315858 0.00002
NM_001267550.2(TTN):c.105601G>A (p.Val35201Met) rs397517797 0.00001
NM_001267550.2(TTN):c.105643A>C (p.Thr35215Pro) rs769195414 0.00001
NM_001267550.2(TTN):c.105667G>A (p.Val35223Ile) rs1688851195 0.00001
NM_001267550.2(TTN):c.105673G>A (p.Glu35225Lys) rs1688847847 0.00001
NM_001267550.2(TTN):c.105718C>T (p.Arg35240Trp) rs752729073 0.00001
NM_001267550.2(TTN):c.105732A>G (p.Pro35244=) rs1203061089 0.00001
NM_001267550.2(TTN):c.105754C>T (p.Arg35252Ter) rs886043924 0.00001
NM_001267550.2(TTN):c.105802G>A (p.Glu35268Lys) rs1010179080 0.00001
NM_001267550.2(TTN):c.105805del (p.Thr35269fs) rs752787097 0.00001
NM_001267550.2(TTN):c.105825G>C (p.Glu35275Asp) rs377219772 0.00001
NM_001267550.2(TTN):c.105831T>G (p.Val35277=) rs751375570 0.00001
NM_001267550.2(TTN):c.105834G>C (p.Gln35278His) rs758094020 0.00001
NM_001267550.2(TTN):c.105839T>A (p.Leu35280His) rs1451951231 0.00001
NM_001267550.2(TTN):c.105849T>C (p.Ser35283=) rs1344897936 0.00001
NM_001267550.2(TTN):c.105852C>G (p.Ala35284=) rs776786546 0.00001
NM_001267550.2(TTN):c.105863T>C (p.Ile35288Thr) rs764713884 0.00001
NM_001267550.2(TTN):c.105873C>A (p.Phe35291Leu) rs1183014419 0.00001
NM_001267550.2(TTN):c.105880G>A (p.Ala35294Thr) rs879080442 0.00001
NM_001267550.2(TTN):c.105935T>G (p.Leu35312Ter) rs779948923 0.00001
NM_001267550.2(TTN):c.105945A>G (p.Lys35315=) rs750183638 0.00001
NM_001267550.2(TTN):c.105581C>T (p.Ser35194Phe)
NM_001267550.2(TTN):c.105584A>C (p.Asp35195Ala)
NM_001267550.2(TTN):c.105591C>A (p.Gly35197=)
NM_001267550.2(TTN):c.105592A>G (p.Asn35198Asp)
NM_001267550.2(TTN):c.105594T>C (p.Asn35198=)
NM_001267550.2(TTN):c.105600C>G (p.Ser35200Arg) rs1553485050
NM_001267550.2(TTN):c.105604G>A (p.Val35202Met)
NM_001267550.2(TTN):c.105613_105633del (p.Asn35205_Glu35211del)
NM_001267550.2(TTN):c.105614del (p.Asn35205fs) rs2154133153
NM_001267550.2(TTN):c.105616A>G (p.Ser35206Gly) rs2154133150
NM_001267550.2(TTN):c.105624G>A (p.Gly35208=) rs763022587
NM_001267550.2(TTN):c.105624G>C (p.Gly35208=) rs763022587
NM_001267550.2(TTN):c.105629AAG[1] (p.Glu35211del)
NM_001267550.2(TTN):c.105630A>G (p.Gln35210=)
NM_001267550.2(TTN):c.105634G>A (p.Ala35212Thr)
NM_001267550.2(TTN):c.105635C>T (p.Ala35212Val)
NM_001267550.2(TTN):c.105636A>T (p.Ala35212=) rs770221153
NM_001267550.2(TTN):c.105637G>A (p.Glu35213Lys)
NM_001267550.2(TTN):c.105644C>T (p.Thr35215Ile)
NM_001267550.2(TTN):c.105648G>A (p.Leu35216=)
NM_001267550.2(TTN):c.105652A>G (p.Ile35218Val)
NM_001267550.2(TTN):c.105655C>T (p.Gln35219Ter)
NM_001267550.2(TTN):c.105661G>A (p.Ala35221Thr)
NM_001267550.2(TTN):c.105662C>A (p.Ala35221Asp) rs1558992011
NM_001267550.2(TTN):c.105664A>G (p.Arg35222Gly) rs2154133116
NM_001267550.2(TTN):c.105665G>C (p.Arg35222Thr)
NM_001267550.2(TTN):c.105670A>T (p.Thr35224Ser) rs1688850382
NM_001267550.2(TTN):c.105689C>T (p.Ser35230Leu)
NM_001267550.2(TTN):c.105691C>T (p.Pro35231Ser)
NM_001267550.2(TTN):c.105696A>T (p.Pro35232=)
NM_001267550.2(TTN):c.105697A>C (p.Arg35233=)
NM_001267550.2(TTN):c.105698G>C (p.Arg35233Thr)
NM_001267550.2(TTN):c.105703A>T (p.Lys35235Ter)
NM_001267550.2(TTN):c.105706T>C (p.Ser35236Pro)
NM_001267550.2(TTN):c.105715C>T (p.Pro35239Ser)
NM_001267550.2(TTN):c.105721G>A (p.Val35241Met)
NM_001267550.2(TTN):c.105731C>T (p.Pro35244Leu) rs2154133075
NM_001267550.2(TTN):c.105732A>C (p.Pro35244=) rs1203061089
NM_001267550.2(TTN):c.105735A>T (p.Glu35245Asp) rs1444816567
NM_001267550.2(TTN):c.105737C>T (p.Ala35246Val) rs370476812
NM_001267550.2(TTN):c.105747_105766del (p.Pro35250fs)
NM_001267550.2(TTN):c.105748C>A (p.Pro35250Thr)
NM_001267550.2(TTN):c.105765T>C (p.Ser35255=)
NM_001267550.2(TTN):c.105772C>A (p.Pro35258Thr) rs886055220
NM_001267550.2(TTN):c.105772C>T (p.Pro35258Ser)
NM_001267550.2(TTN):c.105778C>T (p.His35260Tyr)
NM_001267550.2(TTN):c.105780C>A (p.His35260Gln) rs373486593
NM_001267550.2(TTN):c.105780C>T (p.His35260=) rs373486593
NM_001267550.2(TTN):c.105783G>A (p.Pro35261=) rs556765365
NM_001267550.2(TTN):c.105787_105788delinsTT (p.Ala35263Phe) rs794729250
NM_001267550.2(TTN):c.105789C>T (p.Ala35263=) rs2154133031
NM_001267550.2(TTN):c.105790G>C (p.Val35264Leu) rs770730954
NM_001267550.2(TTN):c.105791dup (p.Ser35265fs) rs1688794902
NM_001267550.2(TTN):c.105792A>T (p.Val35264=) rs2154133027
NM_001267550.2(TTN):c.105796C>T (p.Pro35266Ser)
NM_001267550.2(TTN):c.105804_105805del (p.Glu35268fs)
NM_001267550.2(TTN):c.105810dup (p.Pro35271fs) rs1553484602
NM_001267550.2(TTN):c.105817C>T (p.Pro35273Ser)
NM_001267550.2(TTN):c.105818C>A (p.Pro35273Gln) rs1553484561
NM_001267550.2(TTN):c.105821C>T (p.Thr35274Ile) rs2857271
NM_001267550.2(TTN):c.105829G>A (p.Val35277Ile)
NM_001267550.2(TTN):c.105829G>T (p.Val35277Phe)
NM_001267550.2(TTN):c.105838C>T (p.Leu35280Phe) rs1688767942
NM_001267550.2(TTN):c.105851C>G (p.Ala35284Gly) rs1553484434
NM_001267550.2(TTN):c.105863T>G (p.Ile35288Ser) rs764713884
NM_001267550.2(TTN):c.105865A>G (p.Thr35289Ala)
NM_001267550.2(TTN):c.105881C>G (p.Ala35294Gly) rs569210689
NM_001267550.2(TTN):c.105881C>T (p.Ala35294Val)
NM_001267550.2(TTN):c.105897G>C (p.Glu35299Asp) rs886055219
NM_001267550.2(TTN):c.105898del (p.Ile35300fs)
NM_001267550.2(TTN):c.105899T>C (p.Ile35300Thr)
NM_001267550.2(TTN):c.105903A>T (p.Ala35301=)
NM_001267550.2(TTN):c.105904A>G (p.Lys35302Glu)
NM_001267550.2(TTN):c.105908T>C (p.Leu35303Pro)
NM_001267550.2(TTN):c.105921T>G (p.Val35307=)
NM_001267550.2(TTN):c.105923A>C (p.Glu35308Ala)
NM_001267550.2(TTN):c.105928A>C (p.Ser35310Arg)
NM_001267550.2(TTN):c.105929G>A (p.Ser35310Asn) rs1553484229
NM_001267550.2(TTN):c.105929G>C (p.Ser35310Thr) rs1553484229
NM_001267550.2(TTN):c.105939G>T (p.Arg35313Ser) rs1688720188
NM_001267550.2(TTN):c.105950T>C (p.Val35317Ala)
NM_001267550.2(TTN):c.105952A>T (p.Thr35318Ser) rs1688710616
NM_001267550.2(TTN):c.105953C>A (p.Thr35318Asn) rs1391706140
NM_001267550.2(TTN):c.105953C>G (p.Thr35318Ser) rs1391706140
NM_001267550.2(TTN):c.105957G>A (p.Trp35319Ter) rs1575219172
NM_001267550.2(TTN):c.105959A>T (p.Tyr35320Phe)
NM_001267550.2(TTN):c.105966T>C (p.Asp35322=)
NM_133378.4(TTN):c.[98049dupA];[99250C>T]

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