ClinVar Miner

List of variants reported as benign for EEM syndrome by Illumina Laboratory Services, Illumina

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001793.6(CDH3):c.*154G>T rs1886699 0.85426
NM_001793.6(CDH3):c.720G>A (p.Thr240=) rs2296409 0.63066
NM_001793.6(CDH3):c.813C>A (p.Thr271=) rs2296408 0.62977
NM_001793.6(CDH3):c.1626T>C (p.Asn542=) rs2296405 0.61880
NM_001793.6(CDH3):c.1956G>A (p.Lys652=) rs2274239 0.60625
NM_001793.6(CDH3):c.2239C>A (p.Arg747=) rs17715450 0.53279
NM_001793.6(CDH3):c.1689G>C (p.Gln563His) rs1126933 0.32131
NM_001793.5(CDH3):c.-537A>G rs11644435 0.22872
NM_001793.6(CDH3):c.1430G>A (p.Arg477His) rs34494880 0.04904
NM_001793.6(CDH3):c.1257G>A (p.Lys419=) rs11860187 0.02670
NM_001793.6(CDH3):c.1285G>A (p.Val429Ile) rs34394404 0.00905
NM_001793.6(CDH3):c.2280+7C>T rs114709429 0.00779
NM_001793.6(CDH3):c.996+13C>T rs114408705 0.00531
NM_001793.6(CDH3):c.*195G>T rs114591853 0.00526
NM_001793.6(CDH3):c.2058C>T (p.Pro686=) rs116035854 0.00373
NM_001793.6(CDH3):c.141C>G (p.Pro47=) rs74619658 0.00086
NM_001793.4(CDH3):c.-629dup rs11440411
NM_001793.6(CDH3):c.612C>A (p.Ile204=) rs8049247

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