ClinVar Miner

List of variants in gene LOC126806431, TTN studied for Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 148
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.17312C>G (p.Thr5771Ser) rs16866477 0.00593
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942 0.00471
NM_001267550.2(TTN):c.17183-9T>C rs141687561 0.00133
NM_001267550.2(TTN):c.17300G>A (p.Ser5767Asn) rs200692495 0.00107
NM_001267550.2(TTN):c.17115C>T (p.Gly5705=) rs370036981 0.00061
NM_001267550.2(TTN):c.17224C>T (p.Leu5742Phe) rs72648943 0.00039
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu) rs185962498 0.00028
NM_001267550.2(TTN):c.17129G>A (p.Arg5710Gln) rs200018866 0.00022
NM_001267550.2(TTN):c.17116G>A (p.Glu5706Lys) rs376593556 0.00021
NM_001267550.2(TTN):c.17478C>T (p.Thr5826=) rs376968974 0.00011
NM_001267550.2(TTN):c.16825G>A (p.Glu5609Lys) rs374682077 0.00009
NM_001267550.2(TTN):c.16934C>T (p.Pro5645Leu) rs370889765 0.00009
NM_001267550.2(TTN):c.17183-7C>T rs371785683 0.00009
NM_001267550.2(TTN):c.17184A>G (p.Glu5728=) rs200984007 0.00009
NM_001267550.2(TTN):c.17302G>A (p.Asp5768Asn) rs576904726 0.00006
NM_001267550.2(TTN):c.16961T>G (p.Val5654Gly) rs763581306 0.00004
NM_001267550.2(TTN):c.16989T>C (p.Thr5663=) rs879099217 0.00004
NM_001267550.2(TTN):c.16863G>A (p.Glu5621=) rs727504441 0.00003
NM_001267550.2(TTN):c.17228G>A (p.Arg5743Gln) rs753892271 0.00003
NM_001267550.2(TTN):c.17461+1G>T rs747990127 0.00003
NM_001267550.2(TTN):c.16868G>T (p.Gly5623Val) rs768364912 0.00002
NM_001267550.2(TTN):c.16904-8T>A rs774983607 0.00002
NM_001267550.2(TTN):c.16959T>C (p.Asp5653=) rs770260995 0.00002
NM_001267550.2(TTN):c.17319C>T (p.Asp5773=) rs760724229 0.00002
NM_001267550.2(TTN):c.17442T>C (p.Ser5814=) rs770532942 0.00002
NM_001267550.2(TTN):c.17565A>G (p.Lys5855=) rs745763221 0.00002
NM_001267550.2(TTN):c.17596G>T (p.Gly5866Cys) rs753136638 0.00002
NM_001267550.2(TTN):c.16854C>T (p.Ala5618=) rs769489900 0.00001
NM_001267550.2(TTN):c.16893A>G (p.Val5631=) rs757393270 0.00001
NM_001267550.2(TTN):c.16956C>T (p.Tyr5652=) rs755186242 0.00001
NM_001267550.2(TTN):c.16975G>A (p.Glu5659Lys) rs763708860 0.00001
NM_001267550.2(TTN):c.17032C>T (p.Arg5678Ter) rs1199616569 0.00001
NM_001267550.2(TTN):c.17047T>G (p.Tyr5683Asp) rs371062603 0.00001
NM_001267550.2(TTN):c.17082G>T (p.Leu5694=) rs750996600 0.00001
NM_001267550.2(TTN):c.17145G>T (p.Val5715=) rs1199177902 0.00001
NM_001267550.2(TTN):c.17182+5G>T rs2080545375 0.00001
NM_001267550.2(TTN):c.17183-13A>T rs768911428 0.00001
NM_001267550.2(TTN):c.17189C>T (p.Pro5730Leu) rs779187099 0.00001
NM_001267550.2(TTN):c.17216C>T (p.Thr5739Ile) rs751087281 0.00001
NM_001267550.2(TTN):c.17227C>T (p.Arg5743Trp) rs377193479 0.00001
NM_001267550.2(TTN):c.17279C>T (p.Thr5760Met) rs770310501 0.00001
NM_001267550.2(TTN):c.17301C>T (p.Ser5767=) rs777677229 0.00001
NM_001267550.2(TTN):c.17320G>A (p.Asp5774Asn) rs752660722 0.00001
NM_001267550.2(TTN):c.17328A>G (p.Ile5776Met) rs928844023 0.00001
NM_001267550.2(TTN):c.17331A>T (p.Arg5777Ser) rs367942154 0.00001
NM_001267550.2(TTN):c.17346C>T (p.Asn5782=) rs535281449 0.00001
NM_001267550.2(TTN):c.17375T>C (p.Ile5792Thr) rs1225094303 0.00001
NM_001267550.2(TTN):c.17445A>G (p.Ala5815=) rs1227218365 0.00001
NM_001267550.2(TTN):c.17461+14G>A rs751425418 0.00001
NM_001267550.2(TTN):c.17556T>C (p.Ile5852=) rs370776424 0.00001
NM_001267550.2(TTN):c.17577T>C (p.Asp5859=) rs1419421654 0.00001
NM_001267550.2(TTN):c.17645T>C (p.Ile5882Thr) rs763665430 0.00001
NM_001267550.2(TTN):c.17669G>C (p.Ser5890Thr) rs775293848 0.00001
NM_001267550.2(TTN):c.16782T>C (p.Phe5594=)
NM_001267550.2(TTN):c.16834G>A (p.Gly5612Ser) rs1060500588
NM_001267550.2(TTN):c.16848_16849del (p.Cys5616_Glu5617delinsTer) rs2154309910
NM_001267550.2(TTN):c.16854C>A (p.Ala5618=) rs769489900
NM_001267550.2(TTN):c.16878C>T (p.His5626=)
NM_001267550.2(TTN):c.16893A>C (p.Val5631=) rs757393270
NM_001267550.2(TTN):c.16903+16G>T
NM_001267550.2(TTN):c.16903+18C>T
NM_001267550.2(TTN):c.16903+2T>C rs1060500574
NM_001267550.2(TTN):c.16904-15C>T
NM_001267550.2(TTN):c.16904-4G>A rs778611530
NM_001267550.2(TTN):c.16904-7A>G
NM_001267550.2(TTN):c.16904-8dup
NM_001267550.2(TTN):c.16907C>T (p.Ser5636Leu) rs1553925181
NM_001267550.2(TTN):c.16917T>C (p.Phe5639=)
NM_001267550.2(TTN):c.16971G>A (p.Leu5657=)
NM_001267550.2(TTN):c.16971G>T (p.Leu5657=)
NM_001267550.2(TTN):c.17019T>C (p.Asp5673=) rs1018272067
NM_001267550.2(TTN):c.17032C>A (p.Arg5678=) rs1199616569
NM_001267550.2(TTN):c.17032_17033del (p.Arg5678fs)
NM_001267550.2(TTN):c.17043A>G (p.Arg5681=)
NM_001267550.2(TTN):c.17073G>A (p.Leu5691=) rs2154309618
NM_001267550.2(TTN):c.17079C>T (p.Ser5693=) rs372588069
NM_001267550.2(TTN):c.17088C>T (p.Ile5696=)
NM_001267550.2(TTN):c.17106A>T (p.Ala5702=)
NM_001267550.2(TTN):c.17115C>G (p.Gly5705=) rs370036981
NM_001267550.2(TTN):c.17127T>C (p.Cys5709=) rs2154309574
NM_001267550.2(TTN):c.17133G>A (p.Val5711=)
NM_001267550.2(TTN):c.17160C>T (p.Cys5720=) rs972381308
NM_001267550.2(TTN):c.17182+14C>A
NM_001267550.2(TTN):c.17182+17G>C
NM_001267550.2(TTN):c.17182+18T>G rs758899121
NM_001267550.2(TTN):c.17182+1G>A
NM_001267550.2(TTN):c.17183-10C>A
NM_001267550.2(TTN):c.17183-15T>G rs2154309423
NM_001267550.2(TTN):c.17183-16T>A
NM_001267550.2(TTN):c.17183-5G>A rs1553924621
NM_001267550.2(TTN):c.17183-5G>T
NM_001267550.2(TTN):c.17187C>G (p.Pro5729=)
NM_001267550.2(TTN):c.17187C>T (p.Pro5729=)
NM_001267550.2(TTN):c.17190A>G (p.Pro5730=)
NM_001267550.2(TTN):c.17201AGA[1] (p.Lys5735del) rs1060500441
NM_001267550.2(TTN):c.17208C>T (p.Ile5736=) rs397517484
NM_001267550.2(TTN):c.17213G>A (p.Ser5738Asn) rs1060500502
NM_001267550.2(TTN):c.17217C>T (p.Thr5739=) rs1553924564
NM_001267550.2(TTN):c.17226C>T (p.Leu5742=) rs2154309349
NM_001267550.2(TTN):c.17232A>G (p.Gly5744=)
NM_001267550.2(TTN):c.17235C>G (p.Gly5745=)
NM_001267550.2(TTN):c.17241T>C (p.Ala5747=)
NM_001267550.2(TTN):c.17259G>A (p.Leu5753=) rs1060503934
NM_001267550.2(TTN):c.17268C>T (p.Ser5756=)
NM_001267550.2(TTN):c.17274A>G (p.Pro5758=) rs1389532263
NM_001267550.2(TTN):c.17281del (p.Thr5760_Val5761insTer) rs1392541002
NM_001267550.2(TTN):c.17298C>T (p.Asp5766=)
NM_001267550.2(TTN):c.17331A>G (p.Arg5777=)
NM_001267550.2(TTN):c.17337C>G (p.Thr5779=) rs763117242
NM_001267550.2(TTN):c.17357G>T (p.Ser5786Ile) rs1553924253
NM_001267550.2(TTN):c.17382C>G (p.Val5794=) rs946342761
NM_001267550.2(TTN):c.17385G>A (p.Lys5795=)
NM_001267550.2(TTN):c.17391T>C (p.Asp5797=) rs1446727042
NM_001267550.2(TTN):c.17409G>A (p.Gln5803=) rs914726368
NM_001267550.2(TTN):c.17423C>T (p.Ala5808Val) rs1409068952
NM_001267550.2(TTN):c.17427A>G (p.Gly5809=)
NM_001267550.2(TTN):c.17442T>G (p.Ser5814=) rs770532942
NM_001267550.2(TTN):c.17445A>C (p.Ala5815=)
NM_001267550.2(TTN):c.17461+12A>T
NM_001267550.2(TTN):c.17461+13C>T
NM_001267550.2(TTN):c.17461+1G>A
NM_001267550.2(TTN):c.17461+1G>C rs747990127
NM_001267550.2(TTN):c.17461+5G>C
NM_001267550.2(TTN):c.17461+8C>T
NM_001267550.2(TTN):c.17462-11G>C
NM_001267550.2(TTN):c.17462-17C>T
NM_001267550.2(TTN):c.17462-20T>C rs747021830
NM_001267550.2(TTN):c.17482G>T (p.Glu5828Ter)
NM_001267550.2(TTN):c.17487T>C (p.Ala5829=) rs2154308954
NM_001267550.2(TTN):c.17499T>C (p.Asp5833=)
NM_001267550.2(TTN):c.17506dup (p.Gln5836fs)
NM_001267550.2(TTN):c.17517A>C (p.Pro5839=) rs2154308917
NM_001267550.2(TTN):c.17523T>C (p.Thr5841=)
NM_001267550.2(TTN):c.17559A>G (p.Thr5853=) rs2154308870
NM_001267550.2(TTN):c.17559A>T (p.Thr5853=)
NM_001267550.2(TTN):c.17580C>T (p.Gly5860=)
NM_001267550.2(TTN):c.17592C>T (p.Thr5864=) rs1481239026
NM_001267550.2(TTN):c.17593C>T (p.Leu5865=) rs1255975692
NM_001267550.2(TTN):c.17595G>A (p.Leu5865=) rs2154308833
NM_001267550.2(TTN):c.17604A>G (p.Lys5868=) rs2154308822
NM_001267550.2(TTN):c.17610A>G (p.Lys5870=) rs2154308817
NM_001267550.2(TTN):c.17612_17613insAAAAATATAAAAT (p.Ile5871_Ser5872insLysIleTer)
NM_001267550.2(TTN):c.17616T>C (p.Ser5872=)
NM_001267550.2(TTN):c.17619C>A (p.Val5873=)
NM_001267550.2(TTN):c.17622T>C (p.Thr5874=)
NM_001267550.2(TTN):c.17622T>G (p.Thr5874=) rs559877209
NM_001267550.2(TTN):c.17634A>G (p.Ser5878=)
NM_001267550.2(TTN):c.17638C>T (p.Leu5880=) rs1414423068

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.