ClinVar Miner

List of variants in gene CDH3 reported as benign for EEM syndrome

Included ClinVar conditions (1):
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Gene type:
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Total variants: 18
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HGVS dbSNP
NM_001793.5(CDH3):c.-537A>G rs11644435
NM_001793.5(CDH3):c.-629dupA rs11440411
NM_001793.6(CDH3):c.*154G>T rs1886699
NM_001793.6(CDH3):c.*195G>T
NM_001793.6(CDH3):c.1257G>A (p.Lys419=) rs11860187
NM_001793.6(CDH3):c.1285G>A (p.Val429Ile) rs34394404
NM_001793.6(CDH3):c.141C>G (p.Pro47=) rs74619658
NM_001793.6(CDH3):c.1430G>A (p.Arg477His) rs34494880
NM_001793.6(CDH3):c.1626T>C (p.Asn542=) rs2296405
NM_001793.6(CDH3):c.1689G>C (p.Gln563His) rs1126933
NM_001793.6(CDH3):c.1956G>A (p.Lys652=) rs2274239
NM_001793.6(CDH3):c.2058C>T (p.Pro686=) rs116035854
NM_001793.6(CDH3):c.2239C>A (p.Arg747=) rs17715450
NM_001793.6(CDH3):c.2280+7C>T rs114709429
NM_001793.6(CDH3):c.612C>A (p.Ile204=) rs8049247
NM_001793.6(CDH3):c.720G>A (p.Thr240=) rs2296409
NM_001793.6(CDH3):c.813C>A (p.Thr271=) rs2296408
NM_001793.6(CDH3):c.996+13C>T

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