ClinVar Miner

List of variants in gene EMD reported as benign by Invitae

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000117.2(EMD):c.144C>T (p.Leu48=) rs200537612
NM_000117.2(EMD):c.272A>G (p.Asn91Ser) rs137977232
NM_000117.2(EMD):c.396C>T (p.His132=) rs145985318
NM_000117.2(EMD):c.428C>T (p.Ser143Phe) rs139983160
NM_000117.2(EMD):c.445G>C (p.Asp149His) rs2070818
NM_000117.2(EMD):c.465C>T (p.Tyr155=) rs143447675

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