ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_004360.5(CDH1):c.1137G>A (p.Thr379=) rs587783050
NM_004360.5(CDH1):c.12G>A (p.Trp4Ter) rs1555509636
NM_004360.5(CDH1):c.1895_1896del (p.His632fs) rs1060501224
NM_004360.5(CDH1):c.1921C>T (p.Gln641Ter) rs587782750
NM_004360.5(CDH1):c.1942G>T (p.Glu648Ter) rs971882211
NM_004360.5(CDH1):c.2296-1G>A rs1057517542
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg) rs587780537
NM_004360.5(CDH1):c.720del (p.Asn240fs) rs1131690819

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