ClinVar Miner

List of variants in gene LOC126806421, TTN studied for Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J

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Gene type:
ClinVar version:
Total variants: 150
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.96158T>C (p.Ile32053Thr) rs62621236 0.08189
NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile) rs56027402 0.01724
NM_001267550.2(TTN):c.96501T>C (p.Ser32167=) rs139223781 0.00251
NM_001267550.2(TTN):c.96108G>A (p.Val32036=) rs372773283 0.00234
NM_001267550.2(TTN):c.96098G>A (p.Arg32033His) rs200648462 0.00090
NM_001267550.2(TTN):c.96918C>T (p.Ile32306=) rs72648266 0.00064
NM_001267550.2(TTN):c.96234C>T (p.Tyr32078=) rs376532382 0.00018
NM_001267550.2(TTN):c.96252A>G (p.Thr32084=) rs369626133 0.00018
NM_001267550.2(TTN):c.96928A>C (p.Thr32310Pro) rs542208825 0.00018
NM_001267550.2(TTN):c.96138A>T (p.Ile32046=) rs368154623 0.00016
NM_001267550.2(TTN):c.96684C>T (p.Tyr32228=) rs368423941 0.00016
NM_001267550.2(TTN):c.96173G>A (p.Arg32058Gln) rs374063064 0.00014
NM_001267550.2(TTN):c.96904+4T>C rs373514079 0.00014
NM_001267550.2(TTN):c.96051A>G (p.Ala32017=) rs367805587 0.00008
NM_001267550.2(TTN):c.96172C>T (p.Arg32058Trp) rs201463708 0.00008
NM_001267550.2(TTN):c.96873T>C (p.Thr32291=) rs368169892 0.00007
NM_001267550.2(TTN):c.96424G>A (p.Val32142Ile) rs779663332 0.00006
NM_001267550.2(TTN):c.96637G>A (p.Asp32213Asn) rs764561909 0.00006
NM_001267550.2(TTN):c.96904+13T>G rs779376692 0.00006
NM_001267550.2(TTN):c.96182T>C (p.Ile32061Thr) rs376202976 0.00005
NM_001267550.2(TTN):c.96286G>A (p.Ala32096Thr) rs376039623 0.00005
NM_001267550.2(TTN):c.96140C>T (p.Thr32047Met) rs375640847 0.00004
NM_001267550.2(TTN):c.96189C>T (p.Thr32063=) rs544886477 0.00004
NM_001267550.2(TTN):c.96225T>A (p.Val32075=) rs752745266 0.00004
NM_001267550.2(TTN):c.96230G>A (p.Arg32077Gln) rs369835255 0.00004
NM_001267550.2(TTN):c.96310+4A>T rs781222763 0.00004
NM_001267550.2(TTN):c.96390G>A (p.Thr32130=) rs200999706 0.00004
NM_001267550.2(TTN):c.96198C>G (p.Ser32066Arg) rs747323263 0.00003
NM_001267550.2(TTN):c.96310+11T>C rs397517764 0.00003
NM_001267550.2(TTN):c.96384T>C (p.Ile32128=) rs757368075 0.00003
NM_001267550.2(TTN):c.96399T>C (p.Gly32133=) rs371827750 0.00003
NM_001267550.2(TTN):c.96525C>T (p.Tyr32175=) rs778126823 0.00003
NM_001267550.2(TTN):c.96906G>A (p.Val32302=) rs200276343 0.00003
NM_001267550.2(TTN):c.96921T>C (p.Asp32307=) rs771385738 0.00003
NM_001267550.2(TTN):c.96420C>T (p.Tyr32140=) rs1009407656 0.00002
NM_001267550.2(TTN):c.96604G>T (p.Val32202Leu) rs755717335 0.00002
NM_001267550.2(TTN):c.96718G>A (p.Glu32240Lys) rs374598326 0.00002
NM_001267550.2(TTN):c.96060A>G (p.Leu32020=) rs1172164559 0.00001
NM_001267550.2(TTN):c.96311-4T>C rs1553518208 0.00001
NM_001267550.2(TTN):c.96315T>G (p.Thr32105=) rs727503540 0.00001
NM_001267550.2(TTN):c.96336G>T (p.Val32112=) rs964067201 0.00001
NM_001267550.2(TTN):c.96422T>A (p.Ile32141Asn) rs753559586 0.00001
NM_001267550.2(TTN):c.96462A>G (p.Thr32154=) rs776263585 0.00001
NM_001267550.2(TTN):c.96615G>A (p.Val32205=) rs763674509 0.00001
NM_001267550.2(TTN):c.96654T>C (p.Thr32218=) rs774339567 0.00001
NM_001267550.2(TTN):c.96685G>A (p.Asp32229Asn) rs770101398 0.00001
NM_001267550.2(TTN):c.96698G>A (p.Arg32233Gln) rs755082341 0.00001
NM_001267550.2(TTN):c.96715C>T (p.Leu32239Phe) rs889392294 0.00001
NM_001267550.2(TTN):c.96717C>T (p.Leu32239=) rs1317384618 0.00001
NM_001267550.2(TTN):c.96782A>G (p.Glu32261Gly) rs1060500578 0.00001
NM_001267550.2(TTN):c.96834G>A (p.Arg32278=) rs558927011 0.00001
NM_001267550.2(TTN):c.96837A>C (p.Ala32279=) rs1232489828 0.00001
NM_001267550.2(TTN):c.96904+8C>T rs528358945 0.00001
NM_001267550.2(TTN):c.96042T>G (p.Leu32014=) rs2154144025
NM_001267550.2(TTN):c.96069T>G (p.Thr32023=)
NM_001267550.2(TTN):c.96069dup (p.Val32024fs) rs878854432
NM_001267550.2(TTN):c.96075C>T (p.Thr32025=)
NM_001267550.2(TTN):c.96084T>C (p.Ala32028=) rs1553518744
NM_001267550.2(TTN):c.96090C>T (p.Ala32030=) rs1575420522
NM_001267550.2(TTN):c.96096G>A (p.Leu32032=) rs1197841768
NM_001267550.2(TTN):c.96105_96106insACAGGAG (p.Val32036fs) rs1695870572
NM_001267550.2(TTN):c.96110_96113del (p.Ser32037fs)
NM_001267550.2(TTN):c.96117T>C (p.Ser32039=)
NM_001267550.2(TTN):c.96141G>A (p.Thr32047=) rs752553035
NM_001267550.2(TTN):c.96153G>A (p.Gln32051=)
NM_001267550.2(TTN):c.96158_96177dup (p.Ile32060fs)
NM_001267550.2(TTN):c.96180T>C (p.Ile32060=) rs572401798
NM_001267550.2(TTN):c.96189C>G (p.Thr32063=) rs544886477
NM_001267550.2(TTN):c.96228T>C (p.Asn32076=)
NM_001267550.2(TTN):c.96229C>A (p.Arg32077=) rs751316145
NM_001267550.2(TTN):c.96233_96236delinsCCT (p.Tyr32078fs) rs1553518529
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn) rs200540781
NM_001267550.2(TTN):c.96235G>C (p.Asp32079His) rs200540781
NM_001267550.2(TTN):c.96252A>T (p.Thr32084=) rs369626133
NM_001267550.2(TTN):c.96260_96279dup (p.Lys32094fs) rs2154143867
NM_001267550.2(TTN):c.96270A>G (p.Gln32090=) rs2154143870
NM_001267550.2(TTN):c.96297T>C (p.Leu32099=)
NM_001267550.2(TTN):c.96303dup (p.Val32102fs) rs1695788718
NM_001267550.2(TTN):c.96310+20T>C
NM_001267550.2(TTN):c.96311-16_96311-15del
NM_001267550.2(TTN):c.96311-20T>A
NM_001267550.2(TTN):c.96311-20T>G
NM_001267550.2(TTN):c.96311-9G>A rs2154143671
NM_001267550.2(TTN):c.96378G>C (p.Trp32126Cys) rs794729542
NM_001267550.2(TTN):c.96392T>C (p.Ile32131Thr) rs978818932
NM_001267550.2(TTN):c.96406C>T (p.Pro32136Ser) rs1553518099
NM_001267550.2(TTN):c.96411C>G (p.Val32137=) rs1329249610
NM_001267550.2(TTN):c.96414C>T (p.Asn32138=) rs933403975
NM_001267550.2(TTN):c.96417T>C (p.Asn32139=)
NM_001267550.2(TTN):c.96420C>A (p.Tyr32140Ter) rs1009407656
NM_001267550.2(TTN):c.96423C>T (p.Ile32141=) rs1356358644
NM_001267550.2(TTN):c.96445A>G (p.Met32149Val) rs972033083
NM_001267550.2(TTN):c.96453A>G (p.Ala32151=)
NM_001267550.2(TTN):c.96468T>G (p.Thr32156=) rs2154143561
NM_001267550.2(TTN):c.96506T>C (p.Leu32169Pro) rs2154143527
NM_001267550.2(TTN):c.96507T>C (p.Leu32169=)
NM_001267550.2(TTN):c.96519C>T (p.Thr32173=)
NM_001267550.2(TTN):c.96525C>G (p.Tyr32175Ter)
NM_001267550.2(TTN):c.96537G>A (p.Val32179=) rs2154143503
NM_001267550.2(TTN):c.96540G>C (p.Leu32180=) rs754837315
NM_001267550.2(TTN):c.96555T>C (p.Tyr32185=) rs1575412584
NM_001267550.2(TTN):c.96570T>C (p.Pro32190=) rs1223460802
NM_001267550.2(TTN):c.96588A>G (p.Ala32196=)
NM_001267550.2(TTN):c.96610T>C (p.Leu32204=) rs1419384451
NM_001267550.2(TTN):c.96618T>C (p.Pro32206=) rs1553517635
NM_001267550.2(TTN):c.96669G>A (p.Trp32223Ter) rs2154143423
NM_001267550.2(TTN):c.96676C>A (p.Pro32226Thr) rs1060500595
NM_001267550.2(TTN):c.96679del (p.Leu32227fs) rs2154143419
NM_001267550.2(TTN):c.96681C>G (p.Leu32227=)
NM_001267550.2(TTN):c.96682dup (p.Tyr32228fs) rs2154143418
NM_001267550.2(TTN):c.96697C>T (p.Arg32233Ter) rs781171206
NM_001267550.2(TTN):c.96708A>T (p.Gly32236=) rs752066259
NM_001267550.2(TTN):c.96711T>C (p.Tyr32237=)
NM_001267550.2(TTN):c.96720G>A (p.Glu32240=)
NM_001267550.2(TTN):c.96723C>G (p.Ala32241=) rs1223885458
NM_001267550.2(TTN):c.96731del (p.Ala32244fs) rs2154143380
NM_001267550.2(TTN):c.96742A>T (p.Arg32248Ter)
NM_001267550.2(TTN):c.96743G>A (p.Arg32248Lys) rs967418486
NM_001267550.2(TTN):c.96746G>A (p.Trp32249Ter) rs2154143363
NM_001267550.2(TTN):c.96756T>C (p.Val32252=) rs752935152
NM_001267550.2(TTN):c.96774A>G (p.Thr32258=)
NM_001267550.2(TTN):c.96789T>A (p.Thr32263=)
NM_001267550.2(TTN):c.96798C>A (p.Ser32266=)
NM_001267550.2(TTN):c.96816A>G (p.Gln32272=) rs2154143321
NM_001267550.2(TTN):c.96819C>T (p.Tyr32273=)
NM_001267550.2(TTN):c.96824_96831del (p.Leu32274_Phe32275insTer) rs2154143307
NM_001267550.2(TTN):c.96837A>T (p.Ala32279=) rs1232489828
NM_001267550.2(TTN):c.96838C>T (p.Gln32280Ter)
NM_001267550.2(TTN):c.96840A>G (p.Gln32280=) rs776900012
NM_001267550.2(TTN):c.96849del (p.Gly32284fs) rs2154143293
NM_001267550.2(TTN):c.96852T>C (p.Gly32284=)
NM_001267550.2(TTN):c.96858A>G (p.Ser32286=) rs1035330963
NM_001267550.2(TTN):c.96868G>A (p.Glu32290Lys) rs1060500512
NM_001267550.2(TTN):c.96870_96871del (p.Glu32290fs) rs1695435412
NM_001267550.2(TTN):c.96879A>C (p.Thr32293=) rs373707659
NM_001267550.2(TTN):c.96879A>G (p.Thr32293=) rs373707659
NM_001267550.2(TTN):c.96882C>T (p.Ala32294=)
NM_001267550.2(TTN):c.96897C>T (p.Asp32299=)
NM_001267550.2(TTN):c.96901del (p.Arg32301fs)
NM_001267550.2(TTN):c.96904+10A>G
NM_001267550.2(TTN):c.96904+13T>C
NM_001267550.2(TTN):c.96904+17C>A
NM_001267550.2(TTN):c.96904+1G>A rs1553517092
NM_001267550.2(TTN):c.96904+8C>A rs528358945
NM_001267550.2(TTN):c.96904G>A (p.Val32302Met) rs1339368168
NM_001267550.2(TTN):c.96905-1G>A
NM_001267550.2(TTN):c.96905-20G>A
NM_001267550.2(TTN):c.96909dup (p.Pro32304fs) rs1553516759
NM_001267550.2(TTN):c.96937C>T (p.Gln32313Ter) rs1695289576
NM_001267550.2(TTN):c.96944_96945dup (p.Ile32316fs)

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