ClinVar Miner

List of variants in gene CDH3 reported as likely pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NC_000016.10:g.(?_68676385)_(68679974_?)dup
NC_000016.9:g.(?_68697395)_(68713970_?)dup
NC_000016.9:g.(?_68710268)_(68713897_?)dup
NM_001793.6(CDH3):c.1063G>T (p.Asp355Tyr) rs1597809479
NM_001793.6(CDH3):c.1424+1G>C rs2152102729
NM_001793.6(CDH3):c.2002+2T>G rs2152105628
NM_001793.6(CDH3):c.2002+5G>A rs902162035
NM_001793.6(CDH3):c.2003-2A>G rs2152106824
NM_001793.6(CDH3):c.2280+1dup rs2152107192
NM_001793.6(CDH3):c.247-2A>C
NM_001793.6(CDH3):c.390+1G>C
NM_001793.6(CDH3):c.46-1G>C rs2152087452
NM_001793.6(CDH3):c.46-2A>G rs2152087451
NM_001793.6(CDH3):c.46-2A>T rs2152087451
NM_001793.6(CDH3):c.613G>A (p.Val205Met)
NM_001793.6(CDH3):c.691+1G>C rs758051035
NM_001793.6(CDH3):c.868-2A>T rs1242228226

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