List of variants in gene TTN reported as likely pathogenic by Illumina Laboratory Services, Illumina

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs)	rs587780494	0.00003
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter)	rs140743001	0.00001
NM_001267550.2(TTN):c.103705A>T (p.Lys34569Ter)	rs1553490574
NM_001267550.2(TTN):c.106928_106932del (p.Val35643fs)
NM_001267550.2(TTN):c.44294dup (p.Leu14766fs)
NM_001267550.2(TTN):c.46305-2A>G
NM_001267550.2(TTN):c.56679dup (p.Ser18894Ter)	rs2052563186
NM_001267550.2(TTN):c.76115dup (p.Asn25372fs)	rs774604740
NM_001267550.2(TTN):c.80997_81012del (p.Ala26998_Tyr26999insTer)	rs727503559
NM_001267550.2(TTN):c.84504dup (p.Ser28169fs)
NM_001267550.2(TTN):c.87077del (p.Pro29026fs)
NM_001267550.2(TTN):c.90495G>A (p.Trp30165Ter)
NM_001267550.2(TTN):c.92284_92288dup (p.Ser30763fs)	rs756367933
NM_001267550.2(TTN):c.95126C>G (p.Pro31709Arg)	rs869320739

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