ClinVar Miner

List of variants in gene CDH1 reported as pathogenic for Familial cancer of breast

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_004360.5(CDH1):c.1137+1G>A rs876660771 0.00001
NM_004360.5(CDH1):c.1009_1010del (p.Ser337Phefs) rs786201045
NM_004360.5(CDH1):c.1062del (p.Gly354_Leu355insTer)
NM_004360.5(CDH1):c.1107del (p.Asn369fs) rs1567507138
NM_004360.5(CDH1):c.1137G>A (p.Thr379=) rs587783050
NM_004360.5(CDH1):c.1488_1494del (p.Glu497fs) rs876658261
NM_004360.5(CDH1):c.1565+1G>A rs587780113
NM_004360.5(CDH1):c.1565+1G>T rs587780113
NM_004360.5(CDH1):c.1565+2dup rs1555516200
NM_004360.5(CDH1):c.1590dup (p.Asn531fs) rs1555516535
NM_004360.5(CDH1):c.1679C>G (p.Thr560Arg) rs746481984
NM_004360.5(CDH1):c.1792C>T (p.Arg598Ter) rs121964877
NM_004360.5(CDH1):c.1979dup (p.Gly661_Asp662insTer) rs730881653
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.2137_2146dup (p.Gly716fs) rs2152139643
NM_004360.5(CDH1):c.2165-1G>C rs1385720097
NM_004360.5(CDH1):c.220C>T (p.Arg74Ter) rs876658932
NM_004360.5(CDH1):c.2275G>T (p.Gly759Ter)
NM_004360.5(CDH1):c.2287G>T (p.Glu763Ter) rs587780787
NM_004360.5(CDH1):c.2386dup (p.Arg796fs) rs1375617541
NM_004360.5(CDH1):c.2430del (p.Phe810fs) rs786203752
NM_004360.5(CDH1):c.2T>C (p.Met1Thr) rs1555509623
NM_004360.5(CDH1):c.382del (p.His128fs) rs1555514492
NM_004360.5(CDH1):c.385C>T (p.Gln129Ter)
NM_004360.5(CDH1):c.49-2A>G rs1060501226
NM_004360.5(CDH1):c.583C>T (p.Gln195Ter) rs1960737851
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg) rs587780537
NM_004360.5(CDH1):c.833-2A>G rs1555515596

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