ClinVar Miner

List of variants in gene combination LOC126806422, TTN reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 80
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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.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.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.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.70570A>G (p.Thr23524Ala) rs369526268 0.00004
NM_001267550.2(TTN):c.69768T>C (p.Ser23256=) rs182679164 0.00003
NM_001267550.2(TTN):c.69828C>T (p.Val23276=) rs55659506 0.00002
NM_001267550.2(TTN):c.69882C>T (p.Thr23294=) rs376056197 0.00002
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.70287C>T (p.Asn23429=) rs757831376 0.00002
NM_001267550.2(TTN):c.70435C>T (p.Arg23479Trp) rs760509116 0.00002
NM_001267550.2(TTN):c.69575C>T (p.Thr23192Ile) rs1319888327 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.69694G>C (p.Val23232Leu) rs1195674859 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.69915T>C (p.Asp23305=) rs376486631 0.00001
NM_001267550.2(TTN):c.69957C>G (p.Ile23319Met) rs540840413 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.70137C>T (p.Thr23379=) rs770349910 0.00001
NM_001267550.2(TTN):c.70231G>A (p.Gly23411Ser) rs767075037 0.00001
NM_001267550.2(TTN):c.70282G>T (p.Val23428Leu) rs794729486 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.70455C>T (p.Ala23485=) rs759693169 0.00001
NM_001267550.2(TTN):c.70562C>G (p.Thr23521Arg) rs775589244 0.00001
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.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.70000del (p.Glu23334fs) rs1131691811
NM_001267550.2(TTN):c.70086T>C (p.Ile23362=) rs1553614606
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.70162C>T (p.Arg23388Ter) rs781540455
NM_001267550.2(TTN):c.70301A>C (p.Asp23434Ala) rs1011201907
NM_001267550.2(TTN):c.70383_70386del (p.Ile23461fs)
NM_001267550.2(TTN):c.70409A>G (p.Tyr23470Cys) rs750891099
NM_001267550.2(TTN):c.70507T>G (p.Cys23503Gly) rs778748283
NM_001267550.2(TTN):c.70526T>C (p.Val23509Ala)
NM_001267550.2(TTN):c.70536G>A (p.Glu23512=) rs1057523375
NM_001267550.2(TTN):c.70538A>G (p.Asn23513Ser) rs1553613561
NM_001267550.2(TTN):c.70640G>C (p.Ser23547Thr) rs1553613338
NM_001267550.2(TTN):c.70650C>A (p.Ser23550Arg) rs794729487

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