List of variants in gene TTN reported as likely pathogenic by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status:		Collection method:
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: 13

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs)	rs397517776	0.00002
NM_001267550.2(TTN):c.61921C>T (p.Arg20641Ter)	rs878854324	0.00001
NM_001267550.2(TTN):c.11709T>A (p.Cys3903Ter)	rs2082478614
NM_001267550.2(TTN):c.12675del (p.Tyr4225_Leu4226insTer)
NM_001267550.2(TTN):c.72945C>G (p.Tyr24315Ter)	rs879087983
NM_001267550.2(TTN):c.82208C>G (p.Ser27403Ter)	rs1704654934
NM_001267550.2(TTN):c.83324dup (p.Arg27776fs)	rs2154160971
NM_001267550.2(TTN):c.87535_87536del (p.Glu29179fs)
NM_001267550.2(TTN):c.87616G>T (p.Glu29206Ter)	rs1364550008
NM_001267550.2(TTN):c.91784_91789del (p.Gly30595_Tyr30597delinsAsp)
NM_001267550.2(TTN):c.94178_94179insTCTAG (p.Lys31393fs)	rs1553526134
NM_001267550.2(TTN):c.94179_94180insAG (p.Pro31394fs)	rs1553526116
NM_001267550.2(TTN):c.97040_97041del (p.Leu32347fs)	rs2154142938

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