ClinVar Miner

List of variants in gene combination LOC129935183, TTN reported as likely pathogenic for Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.105754C>T (p.Arg35252Ter) rs886043924 0.00001
NM_001267550.2(TTN):c.105614del (p.Asn35205fs) rs2154133153
NM_001267550.2(TTN):c.105655C>T (p.Gln35219Ter)
NM_001267550.2(TTN):c.105703A>T (p.Lys35235Ter)
NM_001267550.2(TTN):c.105747_105766del (p.Pro35250fs)
NM_001267550.2(TTN):c.105791dup (p.Ser35265fs) rs1688794902
NM_001267550.2(TTN):c.105810dup (p.Pro35271fs) rs1553484602
NM_001267550.2(TTN):c.105898del (p.Ile35300fs)
NM_001267550.2(TTN):c.105957G>A (p.Trp35319Ter) rs1575219172

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