List of variants in gene combination LOC126806425, TTN reported as pathogenic by GeneDx

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.52550_52554dup (p.Val17519fs)	rs1553688405
NM_001267550.2(TTN):c.52731_52732del (p.Arg17577fs)	rs878854315
NM_001267550.2(TTN):c.52857C>A (p.Cys17619Ter)	rs1057520724
NM_001267550.2(TTN):c.52903C>T (p.Arg17635Ter)	rs2154197219
NM_001267550.2(TTN):c.53355G>A (p.Trp17785Ter)	rs794729273
NM_001267550.2(TTN):c.53393del (p.Gly17798fs)	rs794729324

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