ClinVar Miner

List of variants in gene LOC126806433, TTN studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 126
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.7174G>A (p.Gly2392Ser) rs4894048 0.05739
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.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.6958C>T (p.Arg2320Cys) rs776478343 0.00004
NM_001267550.2(TTN):c.7416T>C (p.Asp2472=) rs763423885 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.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.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.7057+1G>A rs763909866 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.6845A>C (p.Tyr2282Ser) rs754307416 0.00001
NM_001267550.2(TTN):c.6864C>T (p.Cys2288=) rs543264216 0.00001
NM_001267550.2(TTN):c.6979G>T (p.Asp2327Tyr) rs1554002409 0.00001
NM_001267550.2(TTN):c.7011C>T (p.Ser2337=) rs748694772 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.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.6791-6C>T
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.6834T>A (p.Val2278=) rs2154345150
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.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.6894A>G (p.Lys2298=)
NM_001267550.2(TTN):c.6900T>C (p.Tyr2300=)
NM_001267550.2(TTN):c.6915G>A (p.Glu2305=)
NM_001267550.2(TTN):c.6927T>C (p.Asn2309=) rs147580120
NM_001267550.2(TTN):c.6972G>T (p.Thr2324=)
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.7005dup (p.Tyr2336fs)
NM_001267550.2(TTN):c.7020C>T (p.Ile2340=) rs587780986
NM_001267550.2(TTN):c.7026del (p.Lys2344fs) rs1211627330
NM_001267550.2(TTN):c.7031dup (p.Thr2345fs) rs2091933920
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+7C>A rs1574627182
NM_001267550.2(TTN):c.7057+8C>T rs1330193226
NM_001267550.2(TTN):c.7058-11A>C rs375844169
NM_001267550.2(TTN):c.7058-11A>G
NM_001267550.2(TTN):c.7058-4A>G rs2091914495
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.7134A>G (p.Lys2378=) rs1574624330
NM_001267550.2(TTN):c.7148del (p.Ser2383fs) rs1060500437
NM_001267550.2(TTN):c.7152G>A (p.Val2384=) rs2154344952
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.7203T>C (p.Val2401=) rs1345996453
NM_001267550.2(TTN):c.7208T>C (p.Ile2403Thr) rs760895168
NM_001267550.2(TTN):c.7229A>C (p.His2410Pro) rs747828487
NM_001267550.2(TTN):c.7242T>C (p.Ile2414=) rs727503689
NM_001267550.2(TTN):c.7275C>G (p.Tyr2425Ter)
NM_001267550.2(TTN):c.7290A>G (p.Pro2430=)
NM_001267550.2(TTN):c.7300C>T (p.Leu2434Phe) rs879004898
NM_001267550.2(TTN):c.7311T>C (p.Ser2437=) rs2154344855
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+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.7331-1G>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.7362T>A (p.Val2454=) rs1574618784
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.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.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.7469G>T (p.Arg2490Leu) rs148920986
NM_001267550.2(TTN):c.7473A>G (p.Val2491=) rs2154344707

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.