ClinVar Miner

List of variants in gene combination LOC126806422, TTN studied for not provided

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Gene type:
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Total variants: 110
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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.70305G>A (p.Thr23435=) rs397517684 0.00006
NM_001267550.2(TTN):c.70380G>A (p.Leu23460=) rs185660043 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.70036C>T (p.Leu23346=) rs397517681 0.00004
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.69768T>C (p.Ser23256=) rs182679164 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.70259C>T (p.Pro23420Leu) rs776633672 0.00002
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.69630C>T (p.Tyr23210=) rs777602537 0.00001
NM_001267550.2(TTN):c.69639T>C (p.Arg23213=) rs1487392148 0.00001
NM_001267550.2(TTN):c.69694G>C (p.Val23232Leu) rs1195674859 0.00001
NM_001267550.2(TTN):c.69725G>A (p.Gly23242Glu) rs1292885710 0.00001
NM_001267550.2(TTN):c.69815T>G (p.Ile23272Ser) rs758398301 0.00001
NM_001267550.2(TTN):c.69915T>C (p.Asp23305=) rs376486631 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.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.70231G>A (p.Gly23411Ser) rs767075037 0.00001
NM_001267550.2(TTN):c.70436G>A (p.Arg23479Gln) rs140127488 0.00001
NM_001267550.2(TTN):c.70455C>T (p.Ala23485=) rs759693169 0.00001
NM_001267550.2(TTN):c.70562C>G (p.Thr23521Arg) rs775589244 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.69645del (p.Ser23215fs) rs794729333
NM_001267550.2(TTN):c.69650A>C (p.Glu23217Ala) rs72646884
NM_001267550.2(TTN):c.69655dup (p.Arg23219fs) rs794729334
NM_001267550.2(TTN):c.69716-1G>T rs794729282
NM_001267550.2(TTN):c.69716-9C>T rs776930347
NM_001267550.2(TTN):c.69742C>T (p.His23248Tyr)
NM_001267550.2(TTN):c.69806G>A (p.Gly23269Glu)
NM_001267550.2(TTN):c.69808C>T (p.Leu23270Phe)
NM_001267550.2(TTN):c.69820G>A (p.Gly23274Ser) rs786205331
NM_001267550.2(TTN):c.69829G>A (p.Val23277Met)
NM_001267550.2(TTN):c.69835_69844del (p.Glu23278_His23279insTer) rs2154172889
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.69880del (p.Thr23294fs) rs1553614987
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.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.69983C>T (p.Ala23328Val)
NM_001267550.2(TTN):c.70000del (p.Glu23334fs) rs1131691811
NM_001267550.2(TTN):c.70026T>C (p.Pro23342=) rs878983731
NM_001267550.2(TTN):c.70067T>C (p.Val23356Ala)
NM_001267550.2(TTN):c.70091T>C (p.Ile23364Thr)
NM_001267550.2(TTN):c.70105A>G (p.Lys23369Glu) rs1277463353
NM_001267550.2(TTN):c.70112G>A (p.Arg23371His)
NM_001267550.2(TTN):c.70128del (p.Thr23377fs) rs1553614521
NM_001267550.2(TTN):c.70137C>A (p.Thr23379=) rs770349910
NM_001267550.2(TTN):c.70162C>T (p.Arg23388Ter) rs781540455
NM_001267550.2(TTN):c.70179T>G (p.Asn23393Lys) rs1040909022
NM_001267550.2(TTN):c.70230C>T (p.Thr23410=) rs370698218
NM_001267550.2(TTN):c.70244T>C (p.Met23415Thr)
NM_001267550.2(TTN):c.70274G>C (p.Ser23425Thr) rs980974415
NM_001267550.2(TTN):c.70301A>C (p.Asp23434Ala) rs1011201907
NM_001267550.2(TTN):c.70304C>A (p.Thr23435Lys)
NM_001267550.2(TTN):c.70371C>A (p.Asp23457Glu)
NM_001267550.2(TTN):c.70383_70386del (p.Ile23461fs)
NM_001267550.2(TTN):c.70409A>G (p.Tyr23470Cys) rs750891099
NM_001267550.2(TTN):c.70423C>T (p.Arg23475Cys)
NM_001267550.2(TTN):c.70501G>T (p.Glu23501Ter) rs1709809170
NM_001267550.2(TTN):c.70526T>C (p.Val23509Ala)
NM_001267550.2(TTN):c.70552G>T (p.Gly23518Cys) rs2154172371
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.70578C>A (p.Pro23526=) rs956873465
NM_001267550.2(TTN):c.70615C>G (p.Leu23539Val)
NM_001267550.2(TTN):c.70640G>C (p.Ser23547Thr) rs1553613338

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