List of variants in gene TTN reported as likely pathogenic by Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.51436+1G>A	rs761807131	0.00001
NM_001267550.2(TTN):c.12438_12448del (p.Ser4147fs)	rs1553939749
NM_001267550.2(TTN):c.42909_42910del (p.Cys14303fs)	rs1114167333
NM_001267550.2(TTN):c.54768del (p.Ser18258fs)	rs1114167335
NM_001267550.2(TTN):c.61682C>G (p.Ser20561Ter)	rs1114167324
NM_001267550.2(TTN):c.65035_65036del (p.Ala21679fs)	rs1114167323
NM_001267550.2(TTN):c.75727G>T (p.Glu25243Ter)	rs1114167338
NM_001267550.2(TTN):c.87355del (p.Ala29119fs)	rs794729356

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