ClinVar Miner

List of variants in gene CDH1 reported as pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_004360.5(CDH1):c.1137+1G>A rs876660771 0.00001
NC_000016.9:g.(68771367_68772199)_(68772315_68835572)del
NM_004360.5(CDH1):c.1137G>A (p.Thr379=) rs587783050
NM_004360.5(CDH1):c.1212del (p.Asn405fs) rs1597895871
NM_004360.5(CDH1):c.1565+2dup rs1555516200
NM_004360.5(CDH1):c.1578G>A (p.Trp526Ter) rs886039590
NM_004360.5(CDH1):c.1901C>T (p.Ala634Val) rs121964878
NM_004360.5(CDH1):c.1921C>T (p.Gln641Ter) rs587782750
NM_004360.5(CDH1):c.1999del (p.Leu667fs) rs786202033
NM_004360.5(CDH1):c.2064_2065del (p.Cys688_Glu689delinsTer) rs587781276
NM_004360.5(CDH1):c.382del (p.His128fs) rs1555514492
NM_004360.5(CDH1):c.603del (p.Val202fs) rs1131690809
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg) rs587780537
NM_004360.5(CDH1):c.940A>T (p.Lys314Ter) rs1131690820

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