ClinVar Miner

List of variants in gene LOC126806431, TTN studied for autosomal recessive disease

Included ClinVar conditions (1198):
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Gene type:
ClinVar version:
Total variants: 153
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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.17437T>A (p.Cys5813Ser) rs368692616 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.17376T>G (p.Ile5792Met) rs1041967765 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.17364C>T (p.Tyr5788=) rs2080475152
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.17396A>G (p.Lys5799Arg) rs572678771
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.17558C>T (p.Thr5853Ile) rs2154308873
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

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