ClinVar Miner

List of variants in gene combination LOC126806433, TTN reported as uncertain significance by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys) rs145039979 0.00021
NM_001267550.2(TTN):c.7469G>A (p.Arg2490His) rs148920986 0.00010
NM_001267550.2(TTN):c.6950G>A (p.Arg2317His) rs764882950 0.00006
NM_001267550.2(TTN):c.6820C>G (p.Gln2274Glu) rs145649088 0.00003
NM_001267550.2(TTN):c.6855A>C (p.Glu2285Asp) rs2091955390
NM_001267550.2(TTN):c.7104T>G (p.Cys2368Trp) rs1485265360
NM_001267550.2(TTN):c.7223A>G (p.Gln2408Arg) rs777244038

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