ClinVar Miner

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

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_014000.3(VCL):c.1294C>G (p.Leu432Val) rs144146254 0.00025
NM_014000.3(VCL):c.2969C>T (p.Ala990Val) rs150595117 0.00019
NM_014000.3(VCL):c.590C>T (p.Thr197Ile) rs189242810 0.00019
NM_014000.3(VCL):c.829C>A (p.Leu277Met) rs71579353 0.00010
NM_014000.3(VCL):c.1490T>C (p.Ile497Thr) rs572757800 0.00008
NM_014000.3(VCL):c.1621C>G (p.Leu541Val) rs370229150 0.00008
NM_014000.3(VCL):c.1743+6A>T rs370709860 0.00006
NM_014000.3(VCL):c.2467C>T (p.Arg823Trp) rs779047174 0.00006
NM_014000.3(VCL):c.404T>C (p.Ile135Thr) rs373744314 0.00006
NM_014000.3(VCL):c.1534C>T (p.Arg512Cys) rs781079975 0.00004
NM_014000.3(VCL):c.2046A>T (p.Leu682Phe) rs565398652 0.00004
NM_014000.3(VCL):c.1039C>T (p.Pro347Ser) rs566961713 0.00003
NM_014000.3(VCL):c.2875A>C (p.Asn959His) rs758969419 0.00003
NM_014000.3(VCL):c.3267G>C (p.Glu1089Asp) rs149300310 0.00003
NM_014000.3(VCL):c.1019C>T (p.Ala340Val) rs374928228 0.00002
NM_014000.3(VCL):c.163G>T (p.Val55Phe) rs755441334 0.00001
NM_014000.3(VCL):c.1798A>C (p.Ser600Arg) rs397517236 0.00001
NM_014000.3(VCL):c.2284C>T (p.Arg762Trp) rs1334643090 0.00001
NM_014000.3(VCL):c.2867T>G (p.Met956Arg) rs765717598 0.00001
NM_014000.3(VCL):c.313C>T (p.Arg105Ter) rs397517239 0.00001
NM_014000.3(VCL):c.625A>T (p.Met209Leu) rs144683137 0.00001
NM_014000.3(VCL):c.140T>G (p.Val47Gly) rs2136218338
NM_014000.3(VCL):c.1521C>T (p.Pro507=) rs1564529609
NM_014000.3(VCL):c.169-10delinsTG rs1554814892
NM_014000.3(VCL):c.1873-7C>T
NM_014000.3(VCL):c.1888G>A (p.Ala630Thr) rs727503739
NM_014000.3(VCL):c.2143G>A (p.Glu715Lys) rs1022329091
NM_014000.3(VCL):c.2407G>A (p.Ala803Thr) rs754294941
NM_014000.3(VCL):c.2539C>G (p.Pro847Ala)
NM_014000.3(VCL):c.3350G>A (p.Arg1117Gln)
NM_014000.3(VCL):c.486G>C (p.Lys162Asn) rs1841656671
NM_014000.3(VCL):c.500G>A (p.Gly167Glu) rs1564523552
NM_014000.3(VCL):c.626T>A (p.Met209Lys) rs751243981
NM_014000.3(VCL):c.963del (p.Leu322fs) rs1564526327

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