ClinVar Miner

List of variants in gene combination LOC126806425, TTN reported as likely benign for autosomal recessive disease

Included ClinVar conditions (1204):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr) rs72646809 0.01131
NM_001267550.2(TTN):c.53288-18G>T rs72646810 0.00643
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His) rs72646808 0.00118
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys) rs201213901 0.00115
NM_001267550.2(TTN):c.53055G>A (p.Met17685Ile) rs200387466 0.00074
NM_001267550.2(TTN):c.53226T>C (p.Tyr17742=) rs202200861 0.00028
NM_001267550.2(TTN):c.52656T>C (p.Pro17552=) rs371031259 0.00025
NM_001267550.2(TTN):c.53166C>T (p.Asn17722=) rs371730757 0.00013
NM_001267550.2(TTN):c.52890C>T (p.Thr17630=) rs374228930 0.00007
NM_001267550.2(TTN):c.53142T>C (p.Asp17714=) rs373316165 0.00007
NM_001267550.2(TTN):c.53295T>C (p.Pro17765=) rs771792080 0.00006
NM_001267550.2(TTN):c.52659A>G (p.Gly17553=) rs779828473 0.00004
NM_001267550.2(TTN):c.52863G>A (p.Glu17621=) rs368606067 0.00004
NM_001267550.2(TTN):c.52908G>C (p.Glu17636Asp) rs748175453 0.00004
NM_001267550.2(TTN):c.52929G>A (p.Arg17643=) rs750808639 0.00003
NM_001267550.2(TTN):c.52962G>A (p.Pro17654=) rs773148195 0.00003
NM_001267550.2(TTN):c.53100T>G (p.Pro17700=) rs373140387 0.00003
NM_001267550.2(TTN):c.52557C>T (p.Val17519=) rs397517610 0.00002
NM_001267550.2(TTN):c.53261T>C (p.Phe17754Ser) rs749312983 0.00002
NM_001267550.2(TTN):c.52491T>C (p.Asn17497=) rs745494874 0.00001
NM_001267550.2(TTN):c.52596T>C (p.Asp17532=) rs761084280 0.00001
NM_001267550.2(TTN):c.52716G>A (p.Gly17572=) rs369877063 0.00001
NM_001267550.2(TTN):c.52854C>A (p.Arg17618=) rs899709298 0.00001
NM_001267550.2(TTN):c.52887C>T (p.Tyr17629=) rs940211628 0.00001
NM_001267550.2(TTN):c.52905A>G (p.Arg17635=) rs372908128 0.00001
NM_001267550.2(TTN):c.52920C>T (p.Tyr17640=) rs1553687219 0.00001
NM_001267550.2(TTN):c.52947C>T (p.Ala17649=) rs766991039 0.00001
NM_001267550.2(TTN):c.52948G>A (p.Ala17650Thr) rs535008556 0.00001
NM_001267550.2(TTN):c.52950A>G (p.Ala17650=) rs774191524 0.00001
NM_001267550.2(TTN):c.53002+9C>T rs374671774 0.00001
NM_001267550.2(TTN):c.53127A>G (p.Glu17709=) rs2055198035 0.00001
NM_001267550.2(TTN):c.53154T>C (p.Val17718=) rs990097785 0.00001
NM_001267550.2(TTN):c.53193C>T (p.Ile17731=) rs1375846477 0.00001
NM_001267550.2(TTN):c.53229G>A (p.Val17743=) rs376469717 0.00001
NM_001267550.2(TTN):c.53288-13G>T rs762229186 0.00001
NM_001267550.2(TTN):c.52504T>C (p.Leu17502=) rs2154197574
NM_001267550.2(TTN):c.52509T>G (p.Gly17503=)
NM_001267550.2(TTN):c.52518T>G (p.Leu17506=)
NM_001267550.2(TTN):c.52521A>G (p.Glu17507=)
NM_001267550.2(TTN):c.52536C>T (p.Asn17512=) rs199615557
NM_001267550.2(TTN):c.52545T>C (p.His17515=) rs766537771
NM_001267550.2(TTN):c.52569T>A (p.Leu17523=)
NM_001267550.2(TTN):c.52590T>C (p.Asn17530=) rs777245474
NM_001267550.2(TTN):c.52620T>C (p.Tyr17540=)
NM_001267550.2(TTN):c.52632A>G (p.Val17544=)
NM_001267550.2(TTN):c.52656T>A (p.Pro17552=) rs371031259
NM_001267550.2(TTN):c.52668T>C (p.Ser17556=) rs2154197457
NM_001267550.2(TTN):c.52671A>G (p.Pro17557=) rs377063235
NM_001267550.2(TTN):c.52671A>T (p.Pro17557=) rs377063235
NM_001267550.2(TTN):c.52683C>T (p.Pro17561=)
NM_001267550.2(TTN):c.52705+15A>C
NM_001267550.2(TTN):c.52705+20G>A
NM_001267550.2(TTN):c.52706-11A>G
NM_001267550.2(TTN):c.52746C>T (p.Ser17582=) rs761374387
NM_001267550.2(TTN):c.52803T>C (p.Ile17601=)
NM_001267550.2(TTN):c.52818T>C (p.Val17606=)
NM_001267550.2(TTN):c.52833T>C (p.Val17611=) rs2154197266
NM_001267550.2(TTN):c.52842T>C (p.Asn17614=) rs2154197264
NM_001267550.2(TTN):c.52878C>A (p.Val17626=) rs775005179
NM_001267550.2(TTN):c.52878C>T (p.Val17626=) rs775005179
NM_001267550.2(TTN):c.52881T>C (p.Arg17627=) rs772763911
NM_001267550.2(TTN):c.52947C>G (p.Ala17649=) rs766991039
NM_001267550.2(TTN):c.52965T>C (p.Pro17655=)
NM_001267550.2(TTN):c.52989G>A (p.Val17663=)
NM_001267550.2(TTN):c.53002+10G>T rs370352450
NM_001267550.2(TTN):c.53002+13A>G
NM_001267550.2(TTN):c.53002+18A>G
NM_001267550.2(TTN):c.53002+9C>A rs374671774
NM_001267550.2(TTN):c.53003-12C>A
NM_001267550.2(TTN):c.53003-15G>C
NM_001267550.2(TTN):c.53003-6C>T
NM_001267550.2(TTN):c.53003-7T>C rs2055231136
NM_001267550.2(TTN):c.53004G>A (p.Glu17668=)
NM_001267550.2(TTN):c.53020C>T (p.Leu17674=)
NM_001267550.2(TTN):c.53094T>A (p.Gly17698=)
NM_001267550.2(TTN):c.53100T>C (p.Pro17700=) rs373140387
NM_001267550.2(TTN):c.53109A>G (p.Thr17703=) rs2154197018
NM_001267550.2(TTN):c.53121C>G (p.Thr17707=)
NM_001267550.2(TTN):c.53139G>A (p.Leu17713=)
NM_001267550.2(TTN):c.53148C>T (p.Asp17716=) rs2055191623
NM_001267550.2(TTN):c.53151T>G (p.Arg17717=)
NM_001267550.2(TTN):c.53156T>C (p.Val17719Ala) rs564121832
NM_001267550.2(TTN):c.53185C>T (p.Leu17729=) rs767559716
NM_001267550.2(TTN):c.53206C>A (p.Arg17736=) rs571702144
NM_001267550.2(TTN):c.53217T>C (p.His17739=)
NM_001267550.2(TTN):c.53229G>T (p.Val17743=) rs376469717
NM_001267550.2(TTN):c.53280A>G (p.Glu17760=)
NM_001267550.2(TTN):c.53287+10G>A
NM_001267550.2(TTN):c.53287+14C>T
NM_001267550.2(TTN):c.53288-13G>A rs762229186
NM_001267550.2(TTN):c.53292C>T (p.Val17764=) rs1060503942
NM_001267550.2(TTN):c.53301A>T (p.Pro17767=) rs2154196840
NM_001267550.2(TTN):c.53328A>G (p.Thr17776=) rs1576360008
NM_001267550.2(TTN):c.53346A>G (p.Leu17782=) rs1434853063
NM_001267550.2(TTN):c.53382T>C (p.Ser17794=)

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