ClinVar Miner

List of variants in gene TTN reported as likely pathogenic by Baylor Genetics

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter) rs727504198 0.00003
NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter) rs1064793560 0.00001
GRCh37/hg19 2q31.2(chr2:179403525-179655493)
NM_001267550.2(TTN):c.10115-1G>C rs2088245783
NM_001267550.2(TTN):c.11709T>A (p.Cys3903Ter) rs2082478614
NM_001267550.2(TTN):c.2137C>T (p.Arg713Ter) rs727505277
NM_001267550.2(TTN):c.38182A>T (p.Lys12728Ter)
NM_001267550.2(TTN):c.46344del (p.Ile15448_Ile15449insTer)
NM_001267550.2(TTN):c.83730G>A (p.Trp27910Ter)
NM_001267550.2(TTN):c.86822-2A>G rs773710035
NM_001267550.2(TTN):c.88067G>A (p.Trp29356Ter) rs878854428
NM_001267550.2(TTN):c.91564+2T>C rs1699208458
NM_001267550.2(TTN):c.98989+2T>C

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