List of variants in gene TTN reported as pathogenic by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.68484del (p.Lys22828fs)	rs1370805955	0.00001
NM_001267550.2(TTN):c.87040C>T (p.Arg29014Ter)	rs776065839	0.00001
NM_001267550.2(TTN):c.41329+1G>T	rs796238032
NM_001267550.2(TTN):c.53918del (p.Gly17973fs)	rs1486129583
NM_001267550.2(TTN):c.63793+1G>A	rs2154182296
NM_001267550.2(TTN):c.77452G>T (p.Glu25818Ter)	rs748619096
NM_001267550.2(TTN):c.83324dup (p.Arg27776fs)	rs2154160971
NM_001267550.2(TTN):c.89314G>T (p.Glu29772Ter)	rs200503016
NM_001267550.2(TTN):c.9381C>A (p.Tyr3127Ter)	rs2154341420

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