List of variants in gene TTN reported as pathogenic for Myopathy, myofibrillar, 9, with early respiratory failure

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp)	rs138060032	0.00027
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter)	rs770038577	0.00001
NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys)	rs869320742	0.00001
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu)	rs753334568	0.00001
NM_001267550.2(TTN):c.38442dup (p.Pro12815fs)	rs752101551
NM_001267550.2(TTN):c.64011C>A (p.Tyr21337Ter)	rs1553636324
NM_001267550.2(TTN):c.95126C>G (p.Pro31709Arg)	rs869320739
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg)	rs869320740
NM_001267550.2(TTN):c.95185T>C (p.Trp31729Arg)	rs869320741
NM_001267550.2(TTN):c.95186G>T (p.Trp31729Leu)	rs786205367
NM_001267550.2(TTN):c.95351C>T (p.Ala31784Val)	rs1553520967
NM_001267550.2(TTN):c.95358C>G (p.Asn31786Lys)	rs869320743

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