ClinVar Miner

List of variants in gene combination LOC126806433, TTN

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Gene type:
ClinVar version:
Total variants: 226
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.6790+150G>C rs4894049 0.95011
NM_001267550.2(TTN):c.6791-97G>A rs3816781 0.92714
NM_001267550.2(TTN):c.7174G>A (p.Gly2392Ser) rs4894048 0.05739
NM_001267550.2(TTN):c.6791-202T>C rs113010478 0.00548
NM_001267550.2(TTN):c.7061G>A (p.Arg2354His) rs75031300 0.00287
NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys) rs145039979 0.00021
NM_001267550.2(TTN):c.7234C>T (p.Leu2412=) rs138749618 0.00016
NM_001267550.2(TTN):c.7316G>A (p.Arg2439His) rs142129359 0.00016
NM_001267550.2(TTN):c.6899A>G (p.Tyr2300Cys) rs772093035 0.00013
NM_001267550.2(TTN):c.7339G>A (p.Val2447Met) rs779064962 0.00011
NM_001267550.2(TTN):c.6927T>A (p.Asn2309Lys) rs147580120 0.00010
NM_001267550.2(TTN):c.7469G>A (p.Arg2490His) rs148920986 0.00010
NM_001267550.2(TTN):c.7058-17C>T rs572098454 0.00009
NM_001267550.2(TTN):c.6959G>A (p.Arg2320His) rs374615369 0.00008
NM_001267550.2(TTN):c.6950G>A (p.Arg2317His) rs764882950 0.00006
NM_001267550.2(TTN):c.7023C>T (p.Asp2341=) rs761409144 0.00006
NM_001267550.2(TTN):c.7157G>A (p.Gly2386Asp) rs142926566 0.00006
NM_001267550.2(TTN):c.7328A>G (p.Tyr2443Cys) rs369407160 0.00006
NM_001267550.2(TTN):c.6958C>T (p.Arg2320Cys) rs776478343 0.00004
NM_001267550.2(TTN):c.7117G>T (p.Val2373Phe) rs759496021 0.00004
NM_001267550.2(TTN):c.7180G>C (p.Glu2394Gln) rs537269762 0.00004
NM_001267550.2(TTN):c.7331-3C>T rs772008843 0.00004
NM_001267550.2(TTN):c.7416T>C (p.Asp2472=) rs763423885 0.00004
NM_001267550.2(TTN):c.7459C>A (p.Pro2487Thr) rs759448340 0.00004
NM_001267550.2(TTN):c.6820C>G (p.Gln2274Glu) rs145649088 0.00003
NM_001267550.2(TTN):c.6953G>A (p.Arg2318His) rs761566436 0.00003
NM_001267550.2(TTN):c.6971C>T (p.Thr2324Met) rs760633130 0.00003
NM_001267550.2(TTN):c.6972G>A (p.Thr2324=) rs772147880 0.00003
NM_001267550.2(TTN):c.6995A>G (p.Asp2332Gly) rs749655939 0.00003
NM_001267550.2(TTN):c.7026G>A (p.Gly2342=) rs764861642 0.00003
NM_001267550.2(TTN):c.7159G>A (p.Val2387Ile) rs377691143 0.00003
NM_001267550.2(TTN):c.7338C>T (p.Asp2446=) rs375160102 0.00003
NM_001267550.2(TTN):c.6895T>C (p.Trp2299Arg) rs145585333 0.00002
NM_001267550.2(TTN):c.6923C>A (p.Ser2308Tyr) rs577966527 0.00002
NM_001267550.2(TTN):c.6942T>C (p.Ile2314=) rs762511156 0.00002
NM_001267550.2(TTN):c.6945A>G (p.Thr2315=) rs879103814 0.00002
NM_001267550.2(TTN):c.6949C>T (p.Arg2317Cys) rs750101152 0.00002
NM_001267550.2(TTN):c.7057+1G>A rs763909866 0.00002
NM_001267550.2(TTN):c.7057+2dup rs765019023 0.00002
NM_001267550.2(TTN):c.7331-11T>C rs1198109375 0.00002
NM_001267550.2(TTN):c.7331-16G>T rs372580840 0.00002
NM_001267550.2(TTN):c.7383G>A (p.Lys2461=) rs752865519 0.00002
NM_001267550.2(TTN):c.7392T>C (p.Leu2464=) rs565784637 0.00002
NM_001267550.2(TTN):c.6791-11A>G rs368202177 0.00001
NM_001267550.2(TTN):c.6835C>G (p.Pro2279Ala) rs143679901 0.00001
NM_001267550.2(TTN):c.6844T>C (p.Tyr2282His) rs727503691 0.00001
NM_001267550.2(TTN):c.6845A>C (p.Tyr2282Ser) rs754307416 0.00001
NM_001267550.2(TTN):c.6851G>C (p.Gly2284Ala) rs751111175 0.00001
NM_001267550.2(TTN):c.6864C>T (p.Cys2288=) rs543264216 0.00001
NM_001267550.2(TTN):c.6866T>G (p.Ile2289Ser) rs200440412 0.00001
NM_001267550.2(TTN):c.6915G>T (p.Glu2305Asp) rs778211562 0.00001
NM_001267550.2(TTN):c.6941T>C (p.Ile2314Thr) rs397517708 0.00001
NM_001267550.2(TTN):c.6979G>T (p.Asp2327Tyr) rs1554002409 0.00001
NM_001267550.2(TTN):c.6994G>A (p.Asp2332Asn) rs771180382 0.00001
NM_001267550.2(TTN):c.7011C>T (p.Ser2337=) rs748694772 0.00001
NM_001267550.2(TTN):c.7147A>C (p.Ser2383Arg) rs770123979 0.00001
NM_001267550.2(TTN):c.7156G>A (p.Gly2386Ser) rs777101912 0.00001
NM_001267550.2(TTN):c.7173C>T (p.Asp2391=) rs374509926 0.00001
NM_001267550.2(TTN):c.7176C>T (p.Gly2392=) rs780985946 0.00001
NM_001267550.2(TTN):c.7239C>T (p.Leu2413=) rs1574622425 0.00001
NM_001267550.2(TTN):c.7246G>A (p.Asp2416Asn) rs1383990376 0.00001
NM_001267550.2(TTN):c.7315C>T (p.Arg2439Cys) rs747598377 0.00001
NM_001267550.2(TTN):c.7331-8T>C rs1481205499 0.00001
NM_001267550.2(TTN):c.7399A>G (p.Lys2467Glu) rs1362423521 0.00001
NM_001267550.2(TTN):c.7468C>T (p.Arg2490Cys) rs200131545 0.00001
NM_001267550.2(TTN):c.6791-10T>A
NM_001267550.2(TTN):c.6791-6C>T
NM_001267550.2(TTN):c.6791-8C>T
NM_001267550.2(TTN):c.6807T>C (p.Phe2269=)
NM_001267550.2(TTN):c.6810G>A (p.Val2270=)
NM_001267550.2(TTN):c.6816A>T (p.Glu2272Asp) rs1554002953
NM_001267550.2(TTN):c.6820C>T (p.Gln2274Ter) rs145649088
NM_001267550.2(TTN):c.6825del (p.Asp2275fs) rs2091959062
NM_001267550.2(TTN):c.6826A>G (p.Ile2276Val) rs794729578
NM_001267550.2(TTN):c.6832G>T (p.Val2278Phe)
NM_001267550.2(TTN):c.6834T>A (p.Val2278=) rs2154345150
NM_001267550.2(TTN):c.6835C>T (p.Pro2279Ser) rs143679901
NM_001267550.2(TTN):c.6843A>G (p.Ser2281=)
NM_001267550.2(TTN):c.6846T>A (p.Tyr2282Ter)
NM_001267550.2(TTN):c.6846T>C (p.Tyr2282=)
NM_001267550.2(TTN):c.6849A>G (p.Ser2283=)
NM_001267550.2(TTN):c.6855A>C (p.Glu2285Asp) rs2091955390
NM_001267550.2(TTN):c.6855A>G (p.Glu2285=)
NM_001267550.2(TTN):c.6857T>G (p.Leu2286Ter)
NM_001267550.2(TTN):c.6857del (p.Glu2285_Leu2286insTer) rs2154345136
NM_001267550.2(TTN):c.6858A>G (p.Leu2286=) rs141920643
NM_001267550.2(TTN):c.6870A>C (p.Val2290=) rs143578117
NM_001267550.2(TTN):c.6870A>G (p.Val2290=) rs143578117
NM_001267550.2(TTN):c.6870A>T (p.Val2290=)
NM_001267550.2(TTN):c.6876A>C (p.Pro2292=)
NM_001267550.2(TTN):c.6884T>C (p.Ile2295Thr) rs1561265332
NM_001267550.2(TTN):c.6885A>G (p.Ile2295Met)
NM_001267550.2(TTN):c.6890G>A (p.Gly2297Glu)
NM_001267550.2(TTN):c.6894A>G (p.Lys2298=)
NM_001267550.2(TTN):c.6897G>A (p.Trp2299Ter)
NM_001267550.2(TTN):c.6899A>T (p.Tyr2300Phe)
NM_001267550.2(TTN):c.6900T>C (p.Tyr2300=)
NM_001267550.2(TTN):c.6906T>C (p.Asn2302=)
NM_001267550.2(TTN):c.6913G>A (p.Glu2305Lys) rs367761468
NM_001267550.2(TTN):c.6913G>C (p.Glu2305Gln)
NM_001267550.2(TTN):c.6915G>A (p.Glu2305=)
NM_001267550.2(TTN):c.6927T>C (p.Asn2309=) rs147580120
NM_001267550.2(TTN):c.6936T>C (p.Tyr2312=)
NM_001267550.2(TTN):c.6938C>G (p.Thr2313Arg) rs794729579
NM_001267550.2(TTN):c.6940A>G (p.Ile2314Val) rs2091945518
NM_001267550.2(TTN):c.6972G>T (p.Thr2324=)
NM_001267550.2(TTN):c.6973G>A (p.Val2325Ile)
NM_001267550.2(TTN):c.6981T>C (p.Asp2327=) rs397517709
NM_001267550.2(TTN):c.6987C>A (p.Thr2329=) rs1319645804
NM_001267550.2(TTN):c.6989_6998del (p.Lys2330fs)
NM_001267550.2(TTN):c.6990G>A (p.Lys2330=)
NM_001267550.2(TTN):c.6996C>T (p.Asp2332=)
NM_001267550.2(TTN):c.7002A>G (p.Gly2334=)
NM_001267550.2(TTN):c.7005A>G (p.Glu2335=)
NM_001267550.2(TTN):c.7005dup (p.Tyr2336fs)
NM_001267550.2(TTN):c.7008C>T (p.Tyr2336=)
NM_001267550.2(TTN):c.7020C>T (p.Ile2340=) rs587780986
NM_001267550.2(TTN):c.7021G>A (p.Asp2341Asn)
NM_001267550.2(TTN):c.7024G>A (p.Gly2342Arg)
NM_001267550.2(TTN):c.7026del (p.Lys2344fs) rs1211627330
NM_001267550.2(TTN):c.7031dup (p.Thr2345fs) rs2091933920
NM_001267550.2(TTN):c.7032G>A (p.Lys2344=)
NM_001267550.2(TTN):c.7042_7045dup (p.Leu2349Ter)
NM_001267550.2(TTN):c.7057+19G>T rs1348394218
NM_001267550.2(TTN):c.7057+19del
NM_001267550.2(TTN):c.7057+1G>C
NM_001267550.2(TTN):c.7057+1del
NM_001267550.2(TTN):c.7057+2T>C rs2154345049
NM_001267550.2(TTN):c.7057+5G>T
NM_001267550.2(TTN):c.7057+7C>A rs1574627182
NM_001267550.2(TTN):c.7057+8C>T rs1330193226
NM_001267550.2(TTN):c.7057C>T (p.Pro2353Ser)
NM_001267550.2(TTN):c.7058-11A>C rs375844169
NM_001267550.2(TTN):c.7058-11A>G
NM_001267550.2(TTN):c.7058-2A>G
NM_001267550.2(TTN):c.7058-4A>G rs2091914495
NM_001267550.2(TTN):c.7074C>A (p.Ile2358=)
NM_001267550.2(TTN):c.7099G>A (p.Val2367Ile)
NM_001267550.2(TTN):c.7104T>G (p.Cys2368Trp) rs1485265360
NM_001267550.2(TTN):c.7104_7105del (p.Cys2368_Glu2369delinsTer) rs2154344972
NM_001267550.2(TTN):c.7107G>A (p.Glu2369=) rs2154344970
NM_001267550.2(TTN):c.7113C>T (p.Asp2371=)
NM_001267550.2(TTN):c.7122G>A (p.Gln2374=) rs774105753
NM_001267550.2(TTN):c.7124T>C (p.Leu2375Pro)
NM_001267550.2(TTN):c.7133A>G (p.Lys2378Arg) rs727503690
NM_001267550.2(TTN):c.7134A>G (p.Lys2378=) rs1574624330
NM_001267550.2(TTN):c.7137C>G (p.Val2379=)
NM_001267550.2(TTN):c.7138T>A (p.Ser2380Thr) rs1574624236
NM_001267550.2(TTN):c.7144G>A (p.Glu2382Lys) rs1561260919
NM_001267550.2(TTN):c.7148del (p.Ser2383fs) rs1060500437
NM_001267550.2(TTN):c.7149T>C (p.Ser2383=)
NM_001267550.2(TTN):c.7150G>A (p.Val2384Met)
NM_001267550.2(TTN):c.7152G>A (p.Val2384=) rs2154344952
NM_001267550.2(TTN):c.7158C>T (p.Gly2386=) rs780363319
NM_001267550.2(TTN):c.7161C>G (p.Val2387=) rs2091900653
NM_001267550.2(TTN):c.7163G>A (p.Trp2388Ter)
NM_001267550.2(TTN):c.7166T>A (p.Met2389Lys)
NM_001267550.2(TTN):c.7174_7176delinsAGT (p.Gly2392Ser)
NM_001267550.2(TTN):c.7177C>T (p.Gln2393Ter) rs2154344933
NM_001267550.2(TTN):c.7198A>C (p.Arg2400=) rs765593704
NM_001267550.2(TTN):c.7198A>G (p.Arg2400Gly)
NM_001267550.2(TTN):c.7203T>C (p.Val2401=) rs1345996453
NM_001267550.2(TTN):c.7206C>T (p.His2402=)
NM_001267550.2(TTN):c.7208T>C (p.Ile2403Thr) rs760895168
NM_001267550.2(TTN):c.7214T>C (p.Ile2405Thr)
NM_001267550.2(TTN):c.7222_7223del (p.Gln2408fs) rs794729370
NM_001267550.2(TTN):c.7223A>G (p.Gln2408Arg) rs777244038
NM_001267550.2(TTN):c.7226C>A (p.Ser2409Tyr)
NM_001267550.2(TTN):c.7229A>C (p.His2410Pro) rs747828487
NM_001267550.2(TTN):c.7229A>G (p.His2410Arg)
NM_001267550.2(TTN):c.7242T>C (p.Ile2414=) rs727503689
NM_001267550.2(TTN):c.7248C>T (p.Asp2416=)
NM_001267550.2(TTN):c.7275C>G (p.Tyr2425Ter)
NM_001267550.2(TTN):c.7286T>C (p.Ile2429Thr)
NM_001267550.2(TTN):c.7290A>G (p.Pro2430=)
NM_001267550.2(TTN):c.7300C>T (p.Leu2434Phe) rs879004898
NM_001267550.2(TTN):c.7301T>G (p.Leu2434Arg)
NM_001267550.2(TTN):c.7311T>C (p.Ser2437=) rs2154344855
NM_001267550.2(TTN):c.7317T>A (p.Arg2439=)
NM_001267550.2(TTN):c.7330+12T>C rs2154344841
NM_001267550.2(TTN):c.7330+15T>C rs2154344835
NM_001267550.2(TTN):c.7330+15T>G rs2154344835
NM_001267550.2(TTN):c.7330+16A>G
NM_001267550.2(TTN):c.7330+1_7330+8del
NM_001267550.2(TTN):c.7330+5G>A rs869025547
NM_001267550.2(TTN):c.7330+5G>C rs869025547
NM_001267550.2(TTN):c.7330+8C>T
NM_001267550.2(TTN):c.7331-10G>A
NM_001267550.2(TTN):c.7331-18G>C
NM_001267550.2(TTN):c.7331-18G>T
NM_001267550.2(TTN):c.7331-19T>A
NM_001267550.2(TTN):c.7331-1G>A
NM_001267550.2(TTN):c.7331-20GT[5]
NM_001267550.2(TTN):c.7332dup (p.Val2445fs)
NM_001267550.2(TTN):c.7356A>G (p.Lys2452=)
NM_001267550.2(TTN):c.7359T>C (p.Asp2453=)
NM_001267550.2(TTN):c.7362T>A (p.Val2454=) rs1574618784
NM_001267550.2(TTN):c.7363A>G (p.Asn2455Asp)
NM_001267550.2(TTN):c.7365T>G (p.Asn2455Lys) rs777738635
NM_001267550.2(TTN):c.7365_7374del (p.Asn2455fs) rs794729397
NM_001267550.2(TTN):c.7368G>C (p.Val2456=) rs886055301
NM_001267550.2(TTN):c.7377C>A (p.Gly2459=) rs2154344748
NM_001267550.2(TTN):c.7386T>G (p.Ala2462=) rs767718451
NM_001267550.2(TTN):c.7389G>A (p.Val2463=) rs1574618359
NM_001267550.2(TTN):c.7391_7393dup (p.Leu2464_Glu2465insVal) rs794729371
NM_001267550.2(TTN):c.7397G>C (p.Cys2466Ser)
NM_001267550.2(TTN):c.7398T>C (p.Cys2466=) rs2154344736
NM_001267550.2(TTN):c.7401G>A (p.Lys2467=)
NM_001267550.2(TTN):c.7403T>C (p.Val2468Ala) rs886055300
NM_001267550.2(TTN):c.7408G>A (p.Val2470Ile) rs1228257559
NM_001267550.2(TTN):c.7410C>A (p.Val2470=)
NM_001267550.2(TTN):c.7413T>A (p.Pro2471=)
NM_001267550.2(TTN):c.7417G>A (p.Val2473Met)
NM_001267550.2(TTN):c.7433G>A (p.Trp2478Ter) rs1561254509
NM_001267550.2(TTN):c.7435T>G (p.Tyr2479Asp)
NM_001267550.2(TTN):c.7436A>G (p.Tyr2479Cys) rs1554000863
NM_001267550.2(TTN):c.7439del (p.Tyr2479_Leu2480insTer)
NM_001267550.2(TTN):c.7449A>G (p.Glu2483=)
NM_001267550.2(TTN):c.7450C>T (p.Gln2484Ter) rs2091844239
NM_001267550.2(TTN):c.7455C>T (p.Ile2485=) rs771849393
NM_001267550.2(TTN):c.7458G>A (p.Lys2486=) rs1554000842
NM_001267550.2(TTN):c.7459C>T (p.Pro2487Ser)
NM_001267550.2(TTN):c.7467C>A (p.Asp2489Glu)
NM_001267550.2(TTN):c.7468C>A (p.Arg2490Ser) rs200131545
NM_001267550.2(TTN):c.7469G>T (p.Arg2490Leu) rs148920986
NM_001267550.2(TTN):c.7473A>G (p.Val2491=) rs2154344707

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