List of variants in gene TTN reported as pathogenic by AiLife Diagnostics, AiLife Diagnostics

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter)	rs72646846	0.00006
NM_001267550.2(TTN):c.49648+2del	rs727504851	0.00003
NM_001267550.2(TTN):c.107377+1G>A	rs112188483	0.00002
NM_001267550.2(TTN):c.47494C>T (p.Arg15832Ter)	rs751746401	0.00001
NM_001267550.2(TTN):c.67349-2A>C	rs753948675	0.00001
NM_001267550.2(TTN):c.78178G>T (p.Glu26060Ter)	rs794729289	0.00001
NM_001267550.2(TTN):c.103360del (p.Glu34454fs)	rs760768093
NM_001267550.2(TTN):c.107889del (p.Lys35963fs)	rs281864930
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter)	rs557312035
NM_001267550.2(TTN):c.94344_94347del (p.Lys31448fs)	rs727503546

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