ClinVar Miner

List of variants in gene CDH1 reported as likely pathogenic by GeneDx

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_004360.5(CDH1):c.1031_1032dup (p.Val345fs) rs1555515721
NM_004360.5(CDH1):c.1312del (p.Thr438fs) rs1555515920
NM_004360.5(CDH1):c.1354_1357del (p.Leu452fs) rs886039612
NM_004360.5(CDH1):c.1711+1G>A rs886041161
NM_004360.5(CDH1):c.1733dup (p.Gly579fs) rs1555516821
NM_004360.5(CDH1):c.208dup (p.Ser70fs) rs1555514406
NM_004360.5(CDH1):c.2276G>C (p.Gly759Ala) rs945866627
NM_004360.5(CDH1):c.2474dup (p.Pro826fs) rs1555518221
NM_004360.5(CDH1):c.315del (p.Thr106fs) rs1064795703
NM_004360.5(CDH1):c.454_460del (p.Gln152fs) rs1131690815
NM_004360.5(CDH1):c.455_465del (p.Gln152fs) rs1555515210
NM_004360.5(CDH1):c.468G>A (p.Trp156Ter) rs876661107
NM_004360.5(CDH1):c.532-1G>C rs771085839
NM_004360.5(CDH1):c.603del (p.Val202fs) rs1131690809

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