ClinVar Miner

List of variants in gene LOC126806422, TTN studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 201
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.69585C>T (p.Ser23195=) rs67041405 0.01183
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu) rs115658240 0.00835
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly) rs72646885 0.00553
NM_001267550.2(TTN):c.69716-5C>G rs72646886 0.00290
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950 0.00110
NM_001267550.2(TTN):c.70250T>C (p.Ile23417Thr) rs201836227 0.00086
NM_001267550.2(TTN):c.69904G>A (p.Val23302Ile) rs190421400 0.00036
NM_001267550.2(TTN):c.70491C>T (p.Thr23497=) rs372382315 0.00031
NM_001267550.2(TTN):c.70097T>C (p.Val23366Ala) rs372782502 0.00030
NM_001267550.2(TTN):c.69864A>G (p.Ile23288Met) rs368867993 0.00026
NM_001267550.2(TTN):c.69984G>A (p.Ala23328=) rs56052239 0.00026
NM_001267550.2(TTN):c.70492G>A (p.Gly23498Ser) rs370771532 0.00026
NM_001267550.2(TTN):c.70056A>G (p.Arg23352=) rs75948012 0.00024
NM_001267550.2(TTN):c.69853G>A (p.Glu23285Lys) rs376870149 0.00020
NM_001267550.2(TTN):c.70644C>T (p.Thr23548=) rs148210834 0.00019
NM_001267550.2(TTN):c.70651C>T (p.Leu23551=) rs72646889 0.00011
NM_001267550.2(TTN):c.70131A>G (p.Thr23377=) rs369503828 0.00010
NM_001267550.2(TTN):c.69638G>A (p.Arg23213His) rs374883884 0.00009
NM_001267550.2(TTN):c.70163G>A (p.Arg23388Gln) rs55853138 0.00008
NM_001267550.2(TTN):c.69660A>G (p.Ala23220=) rs371996901 0.00007
NM_001267550.2(TTN):c.70042G>A (p.Ala23348Thr) rs775146212 0.00007
NM_001267550.2(TTN):c.70172T>C (p.Ile23391Thr) rs375202101 0.00007
NM_001267550.2(TTN):c.70506G>T (p.Gly23502=) rs181702963 0.00007
NM_001267550.2(TTN):c.69741G>A (p.Pro23247=) rs566393354 0.00006
NM_001267550.2(TTN):c.70305G>A (p.Thr23435=) rs397517684 0.00006
NM_001267550.2(TTN):c.70380G>A (p.Leu23460=) rs185660043 0.00006
NM_001267550.2(TTN):c.70470T>C (p.His23490=) rs879185626 0.00006
NM_001267550.2(TTN):c.70645G>A (p.Val23549Ile) rs755669336 0.00006
NM_001267550.2(TTN):c.69716-10T>C rs371495009 0.00005
NM_001267550.2(TTN):c.70102A>G (p.Ile23368Val) rs367914610 0.00005
NM_001267550.2(TTN):c.69657A>G (p.Arg23219=) rs754933980 0.00004
NM_001267550.2(TTN):c.70036C>T (p.Leu23346=) rs397517681 0.00004
NM_001267550.2(TTN):c.70288G>A (p.Val23430Ile) rs549709481 0.00004
NM_001267550.2(TTN):c.70404A>T (p.Thr23468=) rs756467437 0.00004
NM_001267550.2(TTN):c.70424G>A (p.Arg23475His) rs370257707 0.00004
NM_001267550.2(TTN):c.70570A>G (p.Thr23524Ala) rs369526268 0.00004
NM_001267550.2(TTN):c.69731C>T (p.Pro23244Leu) rs879056292 0.00003
NM_001267550.2(TTN):c.69768T>C (p.Ser23256=) rs182679164 0.00003
NM_001267550.2(TTN):c.70044C>T (p.Ala23348=) rs771534964 0.00003
NM_001267550.2(TTN):c.70194T>C (p.Thr23398=) rs764734126 0.00003
NM_001267550.2(TTN):c.70578C>T (p.Pro23526=) rs956873465 0.00003
NM_001267550.2(TTN):c.69828C>T (p.Val23276=) rs55659506 0.00002
NM_001267550.2(TTN):c.69852C>T (p.Asp23284=) rs760049838 0.00002
NM_001267550.2(TTN):c.69882C>T (p.Thr23294=) rs376056197 0.00002
NM_001267550.2(TTN):c.69960C>T (p.Asn23320=) rs752969136 0.00002
NM_001267550.2(TTN):c.70257C>T (p.Asn23419=) rs374496130 0.00002
NM_001267550.2(TTN):c.70260G>A (p.Pro23420=) rs72646887 0.00002
NM_001267550.2(TTN):c.70287C>T (p.Asn23429=) rs757831376 0.00002
NM_001267550.2(TTN):c.70435C>T (p.Arg23479Trp) rs760509116 0.00002
NM_001267550.2(TTN):c.69579A>G (p.Pro23193=) rs878854329 0.00001
NM_001267550.2(TTN):c.69606A>C (p.Thr23202=) rs1484321589 0.00001
NM_001267550.2(TTN):c.69630C>T (p.Tyr23210=) rs777602537 0.00001
NM_001267550.2(TTN):c.69639T>C (p.Arg23213=) rs1487392148 0.00001
NM_001267550.2(TTN):c.69708T>C (p.Asp23236=) rs530173124 0.00001
NM_001267550.2(TTN):c.69715+8T>C rs539199374 0.00001
NM_001267550.2(TTN):c.69815T>G (p.Ile23272Ser) rs758398301 0.00001
NM_001267550.2(TTN):c.69822C>T (p.Gly23274=) rs757102551 0.00001
NM_001267550.2(TTN):c.69883G>A (p.Ala23295Thr) rs746519147 0.00001
NM_001267550.2(TTN):c.69915T>C (p.Asp23305=) rs376486631 0.00001
NM_001267550.2(TTN):c.69954C>T (p.Ala23318=) rs1391755399 0.00001
NM_001267550.2(TTN):c.69957C>G (p.Ile23319Met) rs540840413 0.00001
NM_001267550.2(TTN):c.69959A>G (p.Asn23320Ser) rs756468956 0.00001
NM_001267550.2(TTN):c.70005C>T (p.Ile23335=) rs541680047 0.00001
NM_001267550.2(TTN):c.70006G>A (p.Val23336Ile) rs781015638 0.00001
NM_001267550.2(TTN):c.70045G>A (p.Glu23349Lys) rs397517682 0.00001
NM_001267550.2(TTN):c.70053A>G (p.Arg23351=) rs777641437 0.00001
NM_001267550.2(TTN):c.70083T>C (p.Ser23361=) rs766781496 0.00001
NM_001267550.2(TTN):c.70111C>T (p.Arg23371Cys) rs56141309 0.00001
NM_001267550.2(TTN):c.70137C>T (p.Thr23379=) rs770349910 0.00001
NM_001267550.2(TTN):c.70166C>G (p.Ala23389Gly) rs1194442496 0.00001
NM_001267550.2(TTN):c.70181C>T (p.Thr23394Met) rs397517683 0.00001
NM_001267550.2(TTN):c.70182G>A (p.Thr23394=) rs376989129 0.00001
NM_001267550.2(TTN):c.70224T>C (p.Tyr23408=) rs908321623 0.00001
NM_001267550.2(TTN):c.70240G>T (p.Val23414Phe) rs759158138 0.00001
NM_001267550.2(TTN):c.70243A>C (p.Met23415Leu) rs200029470 0.00001
NM_001267550.2(TTN):c.70282G>T (p.Val23428Leu) rs794729486 0.00001
NM_001267550.2(TTN):c.70326G>A (p.Leu23442=) rs1468145399 0.00001
NM_001267550.2(TTN):c.70391G>T (p.Gly23464Val) rs549938348 0.00001
NM_001267550.2(TTN):c.70410C>T (p.Tyr23470=) rs758189623 0.00001
NM_001267550.2(TTN):c.70455C>T (p.Ala23485=) rs759693169 0.00001
NM_001267550.2(TTN):c.70533A>G (p.Ala23511=) rs1253810679 0.00001
NM_001267550.2(TTN):c.70563A>G (p.Thr23521=) rs373686744 0.00001
NM_001267550.2(TTN):c.70564G>A (p.Glu23522Lys) rs561586925 0.00001
NM_001267550.2(TTN):c.70595C>T (p.Ala23532Val) rs1389381134 0.00001
NM_001267550.2(TTN):c.70647C>T (p.Val23549=) rs752532543 0.00001
NM_001267550.2(TTN):c.69571_69592dup (p.Arg23198fs) rs2046499843
NM_001267550.2(TTN):c.69584_69585insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAACACCAGTTTC (p.Ser23195_Asp23196insAlaGlyArgGlyGlySerArgLeuTer)
NM_001267550.2(TTN):c.69612G>A (p.Leu23204=)
NM_001267550.2(TTN):c.69613C>T (p.Gln23205Ter)
NM_001267550.2(TTN):c.69613_69616dup (p.Glu23206fs) rs2154173163
NM_001267550.2(TTN):c.69639T>A (p.Arg23213=)
NM_001267550.2(TTN):c.69687A>G (p.Ser23229=)
NM_001267550.2(TTN):c.69715+11_69715+14del rs1300822971
NM_001267550.2(TTN):c.69715+5G>C rs1553615539
NM_001267550.2(TTN):c.69715_69715+3dup rs2154173093
NM_001267550.2(TTN):c.69716-15T>G
NM_001267550.2(TTN):c.69716-15_69716-14del
NM_001267550.2(TTN):c.69716-19G>A
NM_001267550.2(TTN):c.69716-9C>T rs776930347
NM_001267550.2(TTN):c.69729A>T (p.Pro23243=)
NM_001267550.2(TTN):c.69741G>T (p.Pro23247=) rs566393354
NM_001267550.2(TTN):c.69748A>T (p.Thr23250Ser) rs1060500455
NM_001267550.2(TTN):c.69759del (p.Lys23254fs)
NM_001267550.2(TTN):c.69771T>G (p.Ala23257=)
NM_001267550.2(TTN):c.69786C>T (p.Gly23262=)
NM_001267550.2(TTN):c.69804T>A (p.Gly23268=) rs2154172914
NM_001267550.2(TTN):c.69804T>C (p.Gly23268=)
NM_001267550.2(TTN):c.69811G>T (p.Glu23271Ter) rs1213132001
NM_001267550.2(TTN):c.69825T>C (p.Tyr23275=) rs753970015
NM_001267550.2(TTN):c.69828C>G (p.Val23276=)
NM_001267550.2(TTN):c.69837T>A (p.His23279Gln) rs752879532
NM_001267550.2(TTN):c.69860G>A (p.Trp23287Ter) rs869067204
NM_001267550.2(TTN):c.69861G>A (p.Trp23287Ter)
NM_001267550.2(TTN):c.69866_69869dup (p.Asp23290fs) rs2154172862
NM_001267550.2(TTN):c.69871del (p.Thr23291fs)
NM_001267550.2(TTN):c.69873C>T (p.Thr23291=)
NM_001267550.2(TTN):c.69876A>C (p.Thr23292=) rs1267766480
NM_001267550.2(TTN):c.69876A>G (p.Thr23292=) rs1267766480
NM_001267550.2(TTN):c.69882C>A (p.Thr23294=)
NM_001267550.2(TTN):c.69885C>T (p.Ala23295=)
NM_001267550.2(TTN):c.69888C>G (p.Leu23296=) rs2154172842
NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu) rs372799151
NM_001267550.2(TTN):c.69903C>T (p.Phe23301=) rs372799151
NM_001267550.2(TTN):c.69921G>A (p.Gln23307=)
NM_001267550.2(TTN):c.69923_69926dup (p.Lys23309delinsAsnTer) rs2154172827
NM_001267550.2(TTN):c.69937_69938insGAAAAATACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTANNNNNNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAA (p.Asn23313delinsArgLysIleGlnAlaGlyArgGlyGlySerArgLeuTer)
NM_001267550.2(TTN):c.69937_69938insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAAAATACA (p.Tyr23312_Asn23313insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleMetArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysGluLysTyr)
NM_001267550.2(TTN):c.69968del (p.Gly23323fs)
NM_001267550.2(TTN):c.69972del (p.Glu23326fs)
NM_001267550.2(TTN):c.69984G>C (p.Ala23328=) rs56052239
NM_001267550.2(TTN):c.69999del (p.Glu23334fs)
NM_001267550.2(TTN):c.70017G>A (p.Glu23339=)
NM_001267550.2(TTN):c.70025del (p.Pro23342fs)
NM_001267550.2(TTN):c.70026T>C (p.Pro23342=) rs878983731
NM_001267550.2(TTN):c.70032dup (p.Glu23345Ter)
NM_001267550.2(TTN):c.70051C>T (p.Arg23351Ter) rs1060500575
NM_001267550.2(TTN):c.70059A>G (p.Thr23353=) rs1174326827
NM_001267550.2(TTN):c.70059A>T (p.Thr23353=) rs1174326827
NM_001267550.2(TTN):c.70095T>C (p.Phe23365=)
NM_001267550.2(TTN):c.70101A>G (p.Pro23367=)
NM_001267550.2(TTN):c.70112G>C (p.Arg23371Pro) rs767208489
NM_001267550.2(TTN):c.70115del (p.Pro23372fs)
NM_001267550.2(TTN):c.70120C>G (p.Pro23374Ala) rs1553614524
NM_001267550.2(TTN):c.70131A>T (p.Thr23377=) rs369503828
NM_001267550.2(TTN):c.70133G>A (p.Trp23378Ter)
NM_001267550.2(TTN):c.70137C>A (p.Thr23379=) rs770349910
NM_001267550.2(TTN):c.70149C>T (p.Ile23383=) rs1257313569
NM_001267550.2(TTN):c.70153C>G (p.Leu23385Val) rs769672151
NM_001267550.2(TTN):c.70162C>T (p.Arg23388Ter) rs781540455
NM_001267550.2(TTN):c.70164A>C (p.Arg23388=)
NM_001267550.2(TTN):c.70179T>C (p.Asn23393=)
NM_001267550.2(TTN):c.70200G>C (p.Leu23400=) rs765776189
NM_001267550.2(TTN):c.70203T>C (p.Ile23401=) rs2154172628
NM_001267550.2(TTN):c.70206C>T (p.Ile23402=) rs1575810587
NM_001267550.2(TTN):c.70210_70223delinsTTTACTCTTC (p.Glu23404fs) rs1553614347
NM_001267550.2(TTN):c.70215dup (p.Asn23406Ter) rs1553614378
NM_001267550.2(TTN):c.70222del (p.Tyr23408fs) rs2154172616
NM_001267550.2(TTN):c.70224T>A (p.Tyr23408Ter) rs908321623
NM_001267550.2(TTN):c.70227T>C (p.Asp23409=) rs2154172609
NM_001267550.2(TTN):c.70230C>T (p.Thr23410=) rs370698218
NM_001267550.2(TTN):c.70244T>A (p.Met23415Lys) rs765861604
NM_001267550.2(TTN):c.70270A>T (p.Lys23424Ter)
NM_001267550.2(TTN):c.70278C>T (p.Gly23426=) rs1007006087
NM_001267550.2(TTN):c.70296C>G (p.Val23432=) rs778138805
NM_001267550.2(TTN):c.70314A>G (p.Pro23438=) rs1575808959
NM_001267550.2(TTN):c.70323C>T (p.Asn23441=) rs751179969
NM_001267550.2(TTN):c.70324C>A (p.Leu23442Met) rs1553614105
NM_001267550.2(TTN):c.70341C>T (p.Ile23447=)
NM_001267550.2(TTN):c.70346del (p.Lys23449fs) rs2154172536
NM_001267550.2(TTN):c.70371C>T (p.Asp23457=)
NM_001267550.2(TTN):c.70377T>C (p.Pro23459=) rs768458635
NM_001267550.2(TTN):c.70379_70382dup (p.Gly23463fs) rs2154172514
NM_001267550.2(TTN):c.70388del (p.Gly23463fs) rs2154172507
NM_001267550.2(TTN):c.70401_70402dup (p.Thr23468fs)
NM_001267550.2(TTN):c.70407C>T (p.Asn23469=) rs2154172489
NM_001267550.2(TTN):c.70413T>C (p.Ile23471=)
NM_001267550.2(TTN):c.70437G>A (p.Arg23479=)
NM_001267550.2(TTN):c.70437del (p.Lys23480fs) rs2154172462
NM_001267550.2(TTN):c.70446T>C (p.Tyr23482=)
NM_001267550.2(TTN):c.70464G>A (p.Lys23488=) rs1181435043
NM_001267550.2(TTN):c.70467C>A (p.Cys23489Ter) rs2154172442
NM_001267550.2(TTN):c.70473A>G (p.Lys23491=) rs397517685
NM_001267550.2(TTN):c.70479A>G (p.Thr23493=) rs879010176
NM_001267550.2(TTN):c.70480T>C (p.Tyr23494His) rs72646888
NM_001267550.2(TTN):c.70482_70483del (p.Tyr23494_Lys23495delinsTer)
NM_001267550.2(TTN):c.70491del (p.Gly23498fs) rs2154172422
NM_001267550.2(TTN):c.70501G>T (p.Glu23501Ter) rs1709809170
NM_001267550.2(TTN):c.70524_70525del (p.Arg23508fs)
NM_001267550.2(TTN):c.70545T>C (p.Tyr23515=) rs1575805406
NM_001267550.2(TTN):c.70554T>C (p.Gly23518=) rs1483355164
NM_001267550.2(TTN):c.70557G>A (p.Glu23519=)
NM_001267550.2(TTN):c.70560A>C (p.Pro23520=)
NM_001267550.2(TTN):c.70560A>G (p.Pro23520=) rs759355651
NM_001267550.2(TTN):c.70571_70572dup (p.Glu23525fs) rs1709775754
NM_001267550.2(TTN):c.70579G>A (p.Val23527Ile) rs542004766
NM_001267550.2(TTN):c.70587C>T (p.Ala23529=)
NM_001267550.2(TTN):c.70597C>T (p.Pro23533Ser) rs886055250
NM_001267550.2(TTN):c.70620C>T (p.Asn23540=)
NM_001267550.2(TTN):c.70629_70632dup (p.Thr23545fs) rs2154172318
NM_001267550.2(TTN):c.70647C>A (p.Val23549=) rs752532543
NM_001267550.2(TTN):c.70650C>T (p.Ser23550=)

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