ClinVar Miner

List of variants in gene combination LOC126806422, TTN reported by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.69585C>T (p.Ser23195=) rs67041405 0.01183
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu) rs115658240 0.00835
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly) rs72646885 0.00553
NM_001267550.2(TTN):c.69716-5C>G rs72646886 0.00290
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950 0.00110
NM_001267550.2(TTN):c.69904G>A (p.Val23302Ile) rs190421400 0.00036
NM_001267550.2(TTN):c.70131A>G (p.Thr23377=) rs369503828 0.00010
NM_001267550.2(TTN):c.70506G>T (p.Gly23502=) rs181702963 0.00007
NM_001267550.2(TTN):c.70305G>A (p.Thr23435=) rs397517684 0.00006
NM_001267550.2(TTN):c.70102A>G (p.Ile23368Val) rs367914610 0.00005
NM_001267550.2(TTN):c.70424G>A (p.Arg23475His) rs370257707 0.00004
NM_001267550.2(TTN):c.69815T>G (p.Ile23272Ser) rs758398301 0.00001
NM_001267550.2(TTN):c.70181C>T (p.Thr23394Met) rs397517683 0.00001
NM_001267550.2(TTN):c.70231G>A (p.Gly23411Ser) rs767075037 0.00001
NM_001267550.2(TTN):c.70331C>G (p.Pro23444Arg) rs1325284144 0.00001
NM_001267550.2(TTN):c.69604A>G (p.Thr23202Ala)
NM_001267550.2(TTN):c.69738T>G (p.Asn23246Lys) rs2154172948
NM_001267550.2(TTN):c.69806G>A (p.Gly23269Glu)
NM_001267550.2(TTN):c.69876A>G (p.Thr23292=) rs1267766480
NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu) rs372799151
NM_001267550.2(TTN):c.69976G>A (p.Glu23326Lys)
NM_001267550.2(TTN):c.70069dup (p.Arg23357fs) rs1709972937
NM_001267550.2(TTN):c.70178_70180dup (p.Asn23393dup) rs2154172646
NM_001267550.2(TTN):c.70327C>G (p.Arg23443Gly) rs765987438
NM_001267550.2(TTN):c.70420A>T (p.Lys23474Ter) rs2154172475

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