List of variants in gene combination LOC126806430, TTN reported as uncertain significance by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.18407G>A (p.Arg6136Gln)	rs117551279	0.00016
NM_001267550.2(TTN):c.18295C>T (p.Leu6099Phe)	rs370109572	0.00010
NM_001267550.2(TTN):c.18267T>A (p.Asp6089Glu)	rs754848806	0.00005
NM_001267550.2(TTN):c.18260G>A (p.Ser6087Asn)
NM_001267550.2(TTN):c.18309A>G (p.Glu6103=)	rs1560779799
NM_001267550.2(TTN):c.18413C>A (p.Ser6138Tyr)	rs727504477
NM_001267550.2(TTN):c.18590-9A>G
NM_001267550.2(TTN):c.18723C>G (p.Ser6241Arg)	rs1015857991

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