List of variants in gene TTN reported as pathogenic for TTN-related disorder

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.39974-11T>G	rs758597536	0.00006
NM_001267550.2(TTN):c.86821+2T>A	rs397517735	0.00005
NM_001267550.2(TTN):c.49648+2del	rs727504851	0.00003
NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter)	rs1064793560	0.00001
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter)	rs757082154	0.00001
NM_001267550.2(TTN):c.38737G>T (p.Glu12913Ter)	rs767120669	0.00001
NM_001267550.2(TTN):c.47494C>T (p.Arg15832Ter)	rs751746401	0.00001
NM_001267550.2(TTN):c.102523C>T (p.Arg34175Ter)	rs752697861
NM_001267550.2(TTN):c.107889del (p.Lys35963fs)	rs281864930
NM_001267550.2(TTN):c.38442dup (p.Pro12815fs)	rs752101551
NM_001267550.2(TTN):c.66968del (p.Asn22323fs)	rs2154176360
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter)	rs397517689
NM_001267550.2(TTN):c.80931del (p.Gly26978fs)
NM_001267550.2(TTN):c.83104C>T (p.Arg27702Ter)	rs1559314812
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer)	rs727504856
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter)	rs72648250
NM_001267550.2(TTN):c.97492+1G>A	rs727505319
NM_001267550.2(TTN):c.99045_99046insCC (p.Thr33016fs)

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