ClinVar Miner

List of variants in gene combination LOC126806433, TTN reported as likely benign 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: 75
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.7234C>T (p.Leu2412=) rs138749618 0.00016
NM_001267550.2(TTN):c.7058-17C>T rs572098454 0.00009
NM_001267550.2(TTN):c.7023C>T (p.Asp2341=) rs761409144 0.00006
NM_001267550.2(TTN):c.7416T>C (p.Asp2472=) rs763423885 0.00004
NM_001267550.2(TTN):c.6972G>A (p.Thr2324=) rs772147880 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.6942T>C (p.Ile2314=) rs762511156 0.00002
NM_001267550.2(TTN):c.6945A>G (p.Thr2315=) rs879103814 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.6864C>T (p.Cys2288=) rs543264216 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.7331-8T>C rs1481205499 0.00001
NM_001267550.2(TTN):c.6791-6C>T
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>C (p.Tyr2282=)
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.6990G>A (p.Lys2330=)
NM_001267550.2(TTN):c.6996C>T (p.Asp2332=)
NM_001267550.2(TTN):c.7020C>T (p.Ile2340=) rs587780986
NM_001267550.2(TTN):c.7057+19G>T rs1348394218
NM_001267550.2(TTN):c.7057+19del
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.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.7152G>A (p.Val2384=) rs2154344952
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.7242T>C (p.Ile2414=) rs727503689
NM_001267550.2(TTN):c.7290A>G (p.Pro2430=)
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+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.7331-20GT[5]
NM_001267550.2(TTN):c.7356A>G (p.Lys2452=)
NM_001267550.2(TTN):c.7362T>A (p.Val2454=) rs1574618784
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.7455C>T (p.Ile2485=) rs771849393
NM_001267550.2(TTN):c.7458G>A (p.Lys2486=) rs1554000842
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.