ClinVar Miner

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

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000117.2(EMD):c.144C>T (p.Leu48=) rs200537612
NM_000117.2(EMD):c.167C>T (p.Ala56Val) rs781840855
NM_000117.2(EMD):c.272A>G (p.Asn91Ser) rs137977232
NM_000117.2(EMD):c.562A>C (p.Thr188Pro) rs1557182639
NM_000117.2(EMD):c.759C>G (p.Pro253=) rs1569552110

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