ClinVar Miner

List of variants in gene combination LOC126806424, TTN reported by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.60055G>A (p.Glu20019Lys) rs201487340 0.00458
NM_001267550.2(TTN):c.59316G>A (p.Pro19772=) rs377180286 0.00064
NM_001267550.2(TTN):c.59943C>A (p.Pro19981=) rs202017608 0.00047
NM_001267550.2(TTN):c.59319G>A (p.Glu19773=) rs367622770 0.00039
NM_001267550.2(TTN):c.60005A>G (p.Asp20002Gly) rs199512049 0.00034
NM_001267550.2(TTN):c.59344+3G>A rs142095604 0.00023
NM_001267550.2(TTN):c.60197C>T (p.Pro20066Leu) rs750217838 0.00012
NM_001267550.2(TTN):c.60140G>A (p.Arg20047Lys) rs371060708 0.00005
NM_001267550.2(TTN):c.60138T>C (p.Tyr20046=) rs1215527173 0.00004
NM_001267550.2(TTN):c.59859G>A (p.Ala19953=) rs759120495 0.00003
NM_001267550.2(TTN):c.59534G>A (p.Arg19845His) rs201457934 0.00002
NM_001267550.2(TTN):c.59533C>T (p.Arg19845Cys) rs1232069163 0.00001
NM_001267550.2(TTN):c.59875C>T (p.Arg19959Cys) rs564432498 0.00001
NM_001267550.2(TTN):c.60027C>T (p.Ile20009=) rs368279024 0.00001
NM_001267550.2(TTN):c.59484A>G (p.Pro19828=)
NM_001267550.2(TTN):c.59707G>A (p.Asp19903Asn) rs374163882
NM_001267550.2(TTN):c.59836_59837delinsAG (p.Gln19946Arg) rs1559598959
NM_001267550.2(TTN):c.59926+1G>A rs553526525
NM_001267550.2(TTN):c.59927-10C>A rs1559597189
NM_001267550.2(TTN):c.60099dup (p.Glu20034fs) rs2050247265
NM_001267550.2(TTN):c.60109G>T (p.Val20037Phe) rs749438176

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