ClinVar Miner

List of variants in gene TTN reported as likely pathogenic for Limb-girdle muscular dystrophy, type 2J

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Total variants: 16
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NM_001267550.1(TTN):c.102956_102958del rs878854378
NM_001267550.2(TTN):c.101098_101099insT (p.Asp33700fs) rs869312122
NM_001267550.2(TTN):c.102061C>T (p.Gln34021Ter) rs1060500471
NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg) rs375159973
NM_001267550.2(TTN):c.103374C>A (p.Tyr34458Ter) rs1060500505
NM_001267550.2(TTN):c.104413C>T (p.Arg34805Ter) rs750519430
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670
NM_001267550.2(TTN):c.106531+1G>A rs760915007
NM_001267550.2(TTN):c.107456_107459AGTC[3] (p.Gln35822fs) rs886042246
NM_001267550.2(TTN):c.20449del (p.Ser6817fs)
NM_001267550.2(TTN):c.28174+1G>T rs1577824925
NM_001267550.2(TTN):c.38737G>T (p.Glu12913Ter) rs767120669
NM_001267550.2(TTN):c.59205del (p.Glu19735fs) rs397517643
NM_001267550.2(TTN):c.87015_87016GA[2] (p.Glu29007fs) rs1559267059
NM_133379.5(TTN):c.3034C>T (p.Arg1012Ter) rs397517547

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