ClinVar Miner

List of variants in gene combination LOC126806433, TTN reported as likely benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.7061G>A (p.Arg2354His) rs75031300 0.00287
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

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