List of variants in gene TTN reported as pathogenic for Early-onset myopathy with fatal cardiomyopathy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.15922C>T (p.Arg5308Ter)	rs886042995	0.00003
NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg)	rs375159973	0.00002
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs)	rs397517776	0.00002
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter)	rs757082154	0.00001
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter)	rs878854299	0.00001
NM_001267550.2(TTN):c.53743C>T (p.Arg17915Ter)	rs753333359	0.00001
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter)	rs770038577	0.00001
NM_001267550.2(TTN):c.10115-1G>A	rs2088245783
NM_001267550.2(TTN):c.106541del (p.Asp35514fs)	rs2154131647
NM_001267550.2(TTN):c.34922del (p.Pro11641fs)	rs1553809971
NM_001267550.2(TTN):c.40238dup (p.Tyr13414fs)	rs2154244761
NM_001267550.2(TTN):c.46455del (p.Pro15486fs)	rs2154210615
NM_001267550.2(TTN):c.9163+1G>C	rs1060500549
NM_001267550.2(TTN):c.91920G>A (p.Trp30640Ter)	rs1698600051
NM_001267550.2(TTN):c.9577C>T (p.Arg3193Ter)	rs746115846
TTN:c.106668delA (p.Lys35556Argfs)	rs587776772

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