ClinVar Miner

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

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001927.4(DES):c.934G>A (p.Asp312Asn) rs34337334 0.00059
NM_001927.4(DES):c.656C>T (p.Thr219Ile) rs144901249 0.00058
NM_001927.4(DES):c.635G>A (p.Arg212Gln) rs144261171 0.00019
NM_001927.4(DES):c.407T>A (p.Leu136His) rs397516695 0.00011
NM_001927.4(DES):c.216C>A (p.Ser72Arg) rs375719734 0.00008
NM_001927.4(DES):c.1158C>T (p.Arg386=) rs774323736 0.00004
NM_001927.4(DES):c.1048C>T (p.Arg350Trp) rs62636492 0.00002
NM_001927.4(DES):c.1325C>A (p.Thr442Asn) rs121913005 0.00002
NM_001927.4(DES):c.1027G>A (p.Asp343Asn) rs763903197 0.00001
NM_001927.4(DES):c.516G>A (p.Gln172=) rs1014762661 0.00001
NM_001927.4(DES):c.854C>T (p.Ala285Val) rs1368507241 0.00001
NM_001927.4(DES):c.1036A>T (p.Met346Leu)
NM_001927.4(DES):c.1204A>T (p.Ile402Phe)
NM_001927.4(DES):c.1244G>A (p.Arg415Gln) rs1262288015
NM_001927.4(DES):c.178T>G (p.Ser60Ala) rs2125165968
NM_001927.4(DES):c.226ACC[1] (p.Thr77del)
NM_001927.4(DES):c.541G>C (p.Asp181His) rs1297244198
NM_001927.4(DES):c.841T>A (p.Tyr281Asn)
NM_001927.4(DES):c.883T>C (p.Trp295Arg)
NM_001927.4(DES):c.976C>T (p.His326Tyr) rs794728987

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