ClinVar Miner

List of variants in gene combination LOC126806422, TTN reported as likely pathogenic for Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.69571_69592dup (p.Arg23198fs) rs2046499843
NM_001267550.2(TTN):c.69584_69585insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAACACCAGTTTC (p.Ser23195_Asp23196insAlaGlyArgGlyGlySerArgLeuTer)
NM_001267550.2(TTN):c.69613C>T (p.Gln23205Ter)
NM_001267550.2(TTN):c.69613_69616dup (p.Glu23206fs) rs2154173163
NM_001267550.2(TTN):c.69759del (p.Lys23254fs)
NM_001267550.2(TTN):c.69811G>T (p.Glu23271Ter) rs1213132001
NM_001267550.2(TTN):c.69860G>A (p.Trp23287Ter) rs869067204
NM_001267550.2(TTN):c.69861G>A (p.Trp23287Ter)
NM_001267550.2(TTN):c.69866_69869dup (p.Asp23290fs) rs2154172862
NM_001267550.2(TTN):c.69871del (p.Thr23291fs)
NM_001267550.2(TTN):c.69923_69926dup (p.Lys23309delinsAsnTer) rs2154172827
NM_001267550.2(TTN):c.69937_69938insGAAAAATACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTANNNNNNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAA (p.Asn23313delinsArgLysIleGlnAlaGlyArgGlyGlySerArgLeuTer)
NM_001267550.2(TTN):c.69937_69938insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAAAATACA (p.Tyr23312_Asn23313insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleMetArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysGluLysTyr)
NM_001267550.2(TTN):c.69968del (p.Gly23323fs)
NM_001267550.2(TTN):c.69972del (p.Glu23326fs)
NM_001267550.2(TTN):c.69999del (p.Glu23334fs)
NM_001267550.2(TTN):c.70025del (p.Pro23342fs)
NM_001267550.2(TTN):c.70032dup (p.Glu23345Ter)
NM_001267550.2(TTN):c.70051C>T (p.Arg23351Ter) rs1060500575
NM_001267550.2(TTN):c.70115del (p.Pro23372fs)
NM_001267550.2(TTN):c.70133G>A (p.Trp23378Ter)
NM_001267550.2(TTN):c.70210_70223delinsTTTACTCTTC (p.Glu23404fs) rs1553614347
NM_001267550.2(TTN):c.70215dup (p.Asn23406Ter) rs1553614378
NM_001267550.2(TTN):c.70222del (p.Tyr23408fs) rs2154172616
NM_001267550.2(TTN):c.70224T>A (p.Tyr23408Ter) rs908321623
NM_001267550.2(TTN):c.70270A>T (p.Lys23424Ter)
NM_001267550.2(TTN):c.70346del (p.Lys23449fs) rs2154172536
NM_001267550.2(TTN):c.70379_70382dup (p.Gly23463fs) rs2154172514
NM_001267550.2(TTN):c.70388del (p.Gly23463fs) rs2154172507
NM_001267550.2(TTN):c.70401_70402dup (p.Thr23468fs)
NM_001267550.2(TTN):c.70437del (p.Lys23480fs) rs2154172462
NM_001267550.2(TTN):c.70467C>A (p.Cys23489Ter) rs2154172442
NM_001267550.2(TTN):c.70482_70483del (p.Tyr23494_Lys23495delinsTer)
NM_001267550.2(TTN):c.70491del (p.Gly23498fs) rs2154172422
NM_001267550.2(TTN):c.70501G>T (p.Glu23501Ter) rs1709809170
NM_001267550.2(TTN):c.70524_70525del (p.Arg23508fs)
NM_001267550.2(TTN):c.70571_70572dup (p.Glu23525fs) rs1709775754
NM_001267550.2(TTN):c.70629_70632dup (p.Thr23545fs) rs2154172318

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