ClinVar Miner

List of variants in gene CDH1 reported as likely pathogenic by Quest Diagnostics Nichols Institute San Juan Capistrano

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Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_004360.5(CDH1):c.1137+1G>A rs876660771 0.00001
NM_004360.5(CDH1):c.1566-1G>C rs113583899 0.00001
NM_004360.5(CDH1):c.731A>G (p.Asp244Gly) rs1064794231 0.00001
NM_004360.5(CDH1):c.1145del (p.Gly382fs) rs1555515863
NM_004360.5(CDH1):c.1341del (p.Lys447fs) rs1555516089
NM_004360.5(CDH1):c.1369del (p.Thr457fs) rs1960959718
NM_004360.5(CDH1):c.1553_1565+39del rs1555516191
NM_004360.5(CDH1):c.1587dup (p.Ala530fs) rs1555516532
NM_004360.5(CDH1):c.2440-2A>G rs1555518210
NM_004360.5(CDH1):c.656del (p.Pro219fs) rs1555515284
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg) rs587780537

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