List of variants in gene combination LOC126806421, TTN reported 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
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile)	rs56027402	0.01724
NM_001267550.2(TTN):c.96501T>C (p.Ser32167=)	rs139223781	0.00251
NM_001267550.2(TTN):c.96108G>A (p.Val32036=)	rs372773283	0.00234
NM_001267550.2(TTN):c.96098G>A (p.Arg32033His)	rs200648462	0.00090
NM_001267550.2(TTN):c.96918C>T (p.Ile32306=)	rs72648266	0.00064
NM_001267550.2(TTN):c.96173G>A (p.Arg32058Gln)	rs374063064	0.00014
NM_001267550.2(TTN):c.96424G>A (p.Val32142Ile)	rs779663332	0.00006
NM_001267550.2(TTN):c.96180T>C (p.Ile32060=)	rs572401798
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn)	rs200540781
NM_001267550.2(TTN):c.96235G>C (p.Asp32079His)	rs200540781
NM_001267550.2(TTN):c.96266dup (p.Asn32089fs)	rs1695802877
NM_001267550.2(TTN):c.96289A>G (p.Thr32097Ala)	rs1559126718
NM_001267550.2(TTN):c.96414C>T (p.Asn32138=)	rs933403975
NM_001267550.2(TTN):c.96593T>C (p.Leu32198Pro)	rs2154143465
NM_001267550.2(TTN):c.96919G>A (p.Asp32307Asn)

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