ClinVar Miner

List of variants in gene combination LOC126806420, TTN reported as likely pathogenic for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.100018_100022dup (p.Leu33341fs)
NM_001267550.2(TTN):c.100026_100030del (p.Ser33344fs) rs727503537
NM_001267550.2(TTN):c.100105C>T (p.Gln33369Ter) rs1553503201
NM_001267550.2(TTN):c.100112del (p.Thr33371fs)
NM_001267550.2(TTN):c.100127_100151dup (p.Ile33385fs) rs1553503113
NM_001267550.2(TTN):c.100135G>T (p.Glu33379Ter) rs1691881913
NM_001267550.2(TTN):c.100161del (p.Ser33388fs)
NM_001267550.2(TTN):c.100169_100170del (p.Pro33389_Phe33390insTer)
NM_001267550.2(TTN):c.100171+1_100171+2insAAGAGTCCATTTGGAGGCAGGAAAATCGCTTCAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCACCCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
NM_001267550.2(TTN):c.100172-1G>C rs2154137558
NM_001267550.2(TTN):c.100201_100205del (p.Ile33401fs)
NM_001267550.2(TTN):c.100229_100233del (p.Val33410fs)
NM_001267550.2(TTN):c.100325del (p.Val33442fs) rs1691525574
NM_001267550.2(TTN):c.100342C>T (p.Arg33448Ter)
NM_001267550.2(TTN):c.100367_100368insGA (p.Asn33456fs)
NM_001267550.2(TTN):c.100367_100368insT (p.Leu33457fs) rs2154137420
NM_001267550.2(TTN):c.100367del (p.Asn33456fs) rs2154137422
NM_001267550.2(TTN):c.100369del (p.Ile33458fs) rs2154137417
NM_001267550.2(TTN):c.99719C>G (p.Ser33240Ter) rs794727539
NM_001267550.2(TTN):c.99783dup (p.Lys33262Ter) rs1575324979
NM_001267550.2(TTN):c.99786_99790del (p.Thr33263fs) rs2154138232
NM_001267550.2(TTN):c.99797_99800dup (p.Tyr33268fs)
NM_001267550.2(TTN):c.99853_99854insGGGAAATACAAATTCCAGCTCAGCAATGTTTTTGGAACAGTTGATGCCATCCTTGATG (p.Val33285delinsGlyGluIleGlnIleProAlaGlnGlnCysPheTrpAsnSerTer)
NM_001267550.2(TTN):c.99865+1G>T
NM_001267550.2(TTN):c.99874del (p.Asp33292fs)
NM_001267550.2(TTN):c.99906_99916del (p.Leu33304fs)
NM_001267550.2(TTN):c.99935G>A (p.Trp33312Ter) rs2154138051

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