ClinVar Miner

List of variants in gene combination LOC126806422, TTN reported as uncertain significance

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Total variants: 130
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HGVS dbSNP gnomAD frequency
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.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.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.70645G>A (p.Val23549Ile) rs755669336 0.00006
NM_001267550.2(TTN):c.70102A>G (p.Ile23368Val) rs367914610 0.00005
NM_001267550.2(TTN):c.70039G>C (p.Asp23347His) rs371752797 0.00004
NM_001267550.2(TTN):c.70288G>A (p.Val23430Ile) rs549709481 0.00004
NM_001267550.2(TTN):c.70328G>A (p.Arg23443Gln) rs762529671 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.69749C>T (p.Thr23250Ile) rs771327436 0.00003
NM_001267550.2(TTN):c.70044C>T (p.Ala23348=) rs771534964 0.00003
NM_001267550.2(TTN):c.70047G>C (p.Glu23349Asp) rs774136558 0.00003
NM_001267550.2(TTN):c.70477A>T (p.Thr23493Ser) rs375675901 0.00003
NM_001267550.2(TTN):c.70260G>A (p.Pro23420=) rs72646887 0.00002
NM_001267550.2(TTN):c.70396C>T (p.Arg23466Cys) rs749744742 0.00002
NM_001267550.2(TTN):c.70435C>T (p.Arg23479Trp) rs760509116 0.00002
NM_001267550.2(TTN):c.70485A>T (p.Lys23495Asn) rs1482776876 0.00002
NM_001267550.2(TTN):c.69575C>T (p.Thr23192Ile) rs1319888327 0.00001
NM_001267550.2(TTN):c.69637C>T (p.Arg23213Cys) rs1335495074 0.00001
NM_001267550.2(TTN):c.69639T>C (p.Arg23213=) rs1487392148 0.00001
NM_001267550.2(TTN):c.69725G>A (p.Gly23242Glu) rs1292885710 0.00001
NM_001267550.2(TTN):c.69731C>T (p.Pro23244Leu) rs879056292 0.00001
NM_001267550.2(TTN):c.69815T>G (p.Ile23272Ser) rs758398301 0.00001
NM_001267550.2(TTN):c.69883G>A (p.Ala23295Thr) rs746519147 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.70006G>A (p.Val23336Ile) rs781015638 0.00001
NM_001267550.2(TTN):c.70013G>A (p.Arg23338Gln) rs78916558 0.00001
NM_001267550.2(TTN):c.70045G>A (p.Glu23349Lys) rs397517682 0.00001
NM_001267550.2(TTN):c.70111C>T (p.Arg23371Cys) rs56141309 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.70231G>A (p.Gly23411Ser) rs767075037 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.70331C>G (p.Pro23444Arg) rs1325284144 0.00001
NM_001267550.2(TTN):c.70391G>T (p.Gly23464Val) rs549938348 0.00001
NM_001267550.2(TTN):c.70436G>A (p.Arg23479Gln) rs140127488 0.00001
NM_001267550.2(TTN):c.70530G>A (p.Met23510Ile) rs727503569 0.00001
NM_001267550.2(TTN):c.70562C>G (p.Thr23521Arg) rs775589244 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.69568A>G (p.Ile23190Val) rs762698812
NM_001267550.2(TTN):c.69631G>A (p.Glu23211Lys)
NM_001267550.2(TTN):c.69631G>C (p.Glu23211Gln) rs1215669622
NM_001267550.2(TTN):c.69638G>C (p.Arg23213Pro)
NM_001267550.2(TTN):c.69650A>C (p.Glu23217Ala) rs72646884
NM_001267550.2(TTN):c.69715+5G>C rs1553615539
NM_001267550.2(TTN):c.69715T>C (p.Tyr23239His)
NM_001267550.2(TTN):c.69715_69715+3dup rs2154173093
NM_001267550.2(TTN):c.69716-15T>C
NM_001267550.2(TTN):c.69738T>G (p.Asn23246Lys) rs2154172948
NM_001267550.2(TTN):c.69742C>T (p.His23248Tyr)
NM_001267550.2(TTN):c.69748A>T (p.Thr23250Ser) rs1060500455
NM_001267550.2(TTN):c.69806G>A (p.Gly23269Glu)
NM_001267550.2(TTN):c.69808C>T (p.Leu23270Phe)
NM_001267550.2(TTN):c.69829G>A (p.Val23277Met)
NM_001267550.2(TTN):c.69837T>A (p.His23279Gln) rs752879532
NM_001267550.2(TTN):c.69841_69843dup (p.Lys23281dup) rs869312075
NM_001267550.2(TTN):c.69844G>A (p.Val23282Ile) rs876658079
NM_001267550.2(TTN):c.69845T>C (p.Val23282Ala) rs886042580
NM_001267550.2(TTN):c.69857C>A (p.Ala23286Asp) rs1465961266
NM_001267550.2(TTN):c.69876A>C (p.Thr23292=) rs1267766480
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.69916C>A (p.Leu23306Ile)
NM_001267550.2(TTN):c.69935A>G (p.Tyr23312Cys)
NM_001267550.2(TTN):c.69937A>G (p.Asn23313Asp)
NM_001267550.2(TTN):c.69937_69939del (p.Asn23313del) rs1459956579
NM_001267550.2(TTN):c.69961G>C (p.Asp23321His)
NM_001267550.2(TTN):c.69973G>C (p.Gly23325Arg)
NM_001267550.2(TTN):c.69976G>A (p.Glu23326Lys)
NM_001267550.2(TTN):c.69983C>T (p.Ala23328Val)
NM_001267550.2(TTN):c.69997G>T (p.Val23333Phe)
NM_001267550.2(TTN):c.70009G>C (p.Glu23337Gln)
NM_001267550.2(TTN):c.70026T>C (p.Pro23342=) rs878983731
NM_001267550.2(TTN):c.70067T>C (p.Val23356Ala)
NM_001267550.2(TTN):c.70082G>T (p.Ser23361Ile) rs1433418101
NM_001267550.2(TTN):c.70091T>C (p.Ile23364Thr)
NM_001267550.2(TTN):c.70105A>G (p.Lys23369Glu) rs1277463353
NM_001267550.2(TTN):c.70108G>T (p.Gly23370Cys) rs1575812009
NM_001267550.2(TTN):c.70112G>A (p.Arg23371His)
NM_001267550.2(TTN):c.70112G>C (p.Arg23371Pro) rs767208489
NM_001267550.2(TTN):c.70120C>G (p.Pro23374Ala) rs1553614524
NM_001267550.2(TTN):c.70132T>C (p.Trp23378Arg)
NM_001267550.2(TTN):c.70137C>A (p.Thr23379=) rs770349910
NM_001267550.2(TTN):c.70153C>G (p.Leu23385Val) rs769672151
NM_001267550.2(TTN):c.70178_70180dup (p.Asn23393dup) rs2154172646
NM_001267550.2(TTN):c.70179T>G (p.Asn23393Lys) rs1040909022
NM_001267550.2(TTN):c.70195C>G (p.Leu23399Val) rs1709920958
NM_001267550.2(TTN):c.70244T>A (p.Met23415Lys) rs765861604
NM_001267550.2(TTN):c.70244T>C (p.Met23415Thr)
NM_001267550.2(TTN):c.70255A>C (p.Asn23419His)
NM_001267550.2(TTN):c.70301A>C (p.Asp23434Ala) rs1011201907
NM_001267550.2(TTN):c.70304C>A (p.Thr23435Lys)
NM_001267550.2(TTN):c.70324C>A (p.Leu23442Met) rs1553614105
NM_001267550.2(TTN):c.70327C>G (p.Arg23443Gly) rs765987438
NM_001267550.2(TTN):c.70343C>A (p.Thr23448Lys)
NM_001267550.2(TTN):c.70371C>A (p.Asp23457Glu)
NM_001267550.2(TTN):c.70379T>G (p.Leu23460Arg)
NM_001267550.2(TTN):c.70391G>C (p.Gly23464Ala)
NM_001267550.2(TTN):c.70409A>G (p.Tyr23470Cys) rs750891099
NM_001267550.2(TTN):c.70423C>T (p.Arg23475Cys)
NM_001267550.2(TTN):c.70480T>C (p.Tyr23494His) rs72646888
NM_001267550.2(TTN):c.70507T>G (p.Cys23503Gly) rs778748283
NM_001267550.2(TTN):c.70526T>C (p.Val23509Ala)
NM_001267550.2(TTN):c.70552G>T (p.Gly23518Cys) rs2154172371
NM_001267550.2(TTN):c.70579G>A (p.Val23527Ile) rs542004766
NM_001267550.2(TTN):c.70597C>T (p.Pro23533Ser) rs886055250
NM_001267550.2(TTN):c.70600T>A (p.Ser23534Thr) rs397517686
NM_001267550.2(TTN):c.70615C>G (p.Leu23539Val)
NM_001267550.2(TTN):c.70625T>C (p.Met23542Thr) rs727503570
NM_001267550.2(TTN):c.70640G>C (p.Ser23547Thr) rs1553613338
NM_001267550.2(TTN):c.70650C>A (p.Ser23550Arg) rs794729487

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