ClinVar Miner

List of variants in gene CDH3 reported as pathogenic by Invitae

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001793.6(CDH3):c.1085G>A (p.Trp362Ter) rs755910254 0.00001
NM_001793.6(CDH3):c.1086G>A (p.Trp362Ter) rs779888126 0.00001
NM_001793.6(CDH3):c.1508G>A (p.Arg503His) rs121434542 0.00001
NM_001793.6(CDH3):c.160+1G>A rs1474181679 0.00001
NM_001793.6(CDH3):c.661C>T (p.Arg221Ter) rs761941770 0.00001
NC_000016.9:g.(?_68679283)_(68679673_?)del
NC_000016.9:g.(?_68710268)_(68716410_?)del
NC_000016.9:g.(?_68710288)_(68729826_?)del
NC_000016.9:g.(?_68718466)_(68721659_?)del
NM_001793.6(CDH3):c.1114del (p.Asp372fs)
NM_001793.6(CDH3):c.118dup (p.Ala40fs) rs1208055411
NM_001793.6(CDH3):c.1202_1205del (p.Lys401fs)
NM_001793.6(CDH3):c.1519C>T (p.Gln507Ter) rs1961376390
NM_001793.6(CDH3):c.1796-2A>G
NM_001793.6(CDH3):c.1831_1832del (p.Lys611fs) rs2152105500
NM_001793.6(CDH3):c.1837dup (p.Asp613fs) rs1157340043
NM_001793.6(CDH3):c.1850_1851del (p.Val617fs) rs2152105512
NM_001793.6(CDH3):c.2059dup (p.Leu687fs) rs1961686856
NM_001793.6(CDH3):c.222del (p.Val75fs)
NM_001793.6(CDH3):c.316_317del (p.Lys106fs)
NM_001793.6(CDH3):c.401_403delinsTT (p.Asn134fs)
NM_001793.6(CDH3):c.719_720insA (p.Asp241fs)
NM_001793.6(CDH3):c.830del (p.Gly277fs) rs724159985
NM_001793.6(CDH3):c.927dup (p.Thr310fs)
NM_001793.6(CDH3):c.978dup (p.Met327fs)

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