ClinVar Miner

List of variants in gene EMD reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000117.3(EMD):c.*59G>C rs17426 0.18669
NM_000117.3(EMD):c.*60C>T rs17427 0.17955
NM_000117.3(EMD):c.465C>T (p.Tyr155=) rs143447675 0.00404
NM_000117.3(EMD):c.144C>T (p.Leu48=) rs200537612 0.00315
NM_000117.3(EMD):c.83-13C>G rs201140396 0.00292
NM_000117.3(EMD):c.399+18C>T rs182540760 0.00199
NM_000117.3(EMD):c.399+49G>A rs187060390 0.00102
NM_000117.3(EMD):c.466G>A (p.Gly156Ser) rs144594695 0.00078
NM_000117.3(EMD):c.396C>T (p.His132=) rs145985318 0.00077
NM_000117.3(EMD):c.495G>A (p.Thr165=) rs151074632 0.00075
NM_000117.3(EMD):c.445G>C (p.Asp149His) rs2070818 0.00019
NM_000117.3(EMD):c.618C>T (p.Ile206=) rs782496874 0.00002
NM_000117.3(EMD):c.266-35_266-18dup rs200992013

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