List of variants in gene TTN reported as likely 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: 21

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.12587C>A (p.Ser4196Ter)	rs370912401	0.00010
NM_001267550.2(TTN):c.12016_12019dup (p.Gly4007fs)	rs1553940935	0.00001
NM_001267550.2(TTN):c.100825C>T (p.Arg33609Ter)	rs1057518195
NM_001267550.2(TTN):c.102510G>A (p.Trp34170Ter)	rs1559033550
NM_001267550.2(TTN):c.40603A>T (p.Lys13535Ter)	rs2154238618
NM_001267550.2(TTN):c.44077del (p.Arg14693fs)	rs2154220127
NM_001267550.2(TTN):c.5209G>T (p.Glu1737Ter)	rs2154346241
NM_001267550.2(TTN):c.52334_52335del (p.Val17445fs)	rs2055522786
NM_001267550.2(TTN):c.54648_54649dup (p.Ser18217fs)	rs2154194688
NM_001267550.2(TTN):c.62246del (p.Gly20749fs)	rs2154183801
NM_001267550.2(TTN):c.63794-1G>A	rs2049262622
NM_001267550.2(TTN):c.65042del (p.Asp21681fs)	rs2154179867
NM_001267550.2(TTN):c.66020_66021del (p.Ser22007fs)	rs2154178179
NM_001267550.2(TTN):c.71000G>A (p.Trp23667Ter)	rs865930770
NM_001267550.2(TTN):c.71848_71855dup (p.Gly23953fs)	rs1254650118
NM_001267550.2(TTN):c.82309_82312dup (p.Asn27438delinsArgTer)	rs2154161683
NM_001267550.2(TTN):c.86640C>A (p.Tyr28880Ter)	rs794729298
NM_001267550.2(TTN):c.87165T>A (p.Tyr29055Ter)	rs756211633
NM_001267550.2(TTN):c.87782del (p.Pro29261fs)	rs2154155647
NM_001267550.2(TTN):c.92847C>G (p.Tyr30949Ter)	rs2154147680
NM_001267550.2(TTN):c.97427dup (p.Thr32477fs)	rs2154142450

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