ClinVar Miner

Variants in gene CDH1 with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 50
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HGVS dbSNP gnomAD frequency
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355 0.00004
NM_004360.5(CDH1):c.1137+1G>A rs876660771 0.00001
NM_004360.5(CDH1):c.1008+1G>A rs1960844889
NM_004360.5(CDH1):c.103G>T (p.Glu35Ter) rs1597838625
NM_004360.5(CDH1):c.1137G>A (p.Thr379=) rs587783050
NM_004360.5(CDH1):c.1145del (p.Gly382fs) rs1555515863
NM_004360.5(CDH1):c.1320+1G>T rs886039685
NM_004360.5(CDH1):c.1553_1565+39del rs1555516191
NM_004360.5(CDH1):c.1565+1G>A rs587780113
NM_004360.5(CDH1):c.1565+1G>C rs587780113
NM_004360.5(CDH1):c.1565+1G>T rs587780113
NM_004360.5(CDH1):c.1565+1del rs1064795267
NM_004360.5(CDH1):c.1565+2_1565+3insTT rs1555516200
NM_004360.5(CDH1):c.1565+2dup rs1555516200
NM_004360.5(CDH1):c.1587dup (p.Ala530fs) rs1555516532
NM_004360.5(CDH1):c.1679C>G (p.Thr560Arg) rs746481984
NM_004360.5(CDH1):c.1711+1G>A rs886041161
NM_004360.5(CDH1):c.1711+1G>C rs886041161
NM_004360.5(CDH1):c.1711+1dup rs2152137028
NM_004360.5(CDH1):c.1711+2_1711+7del rs786203089
NM_004360.5(CDH1):c.1795del (p.Thr599fs)
NM_004360.5(CDH1):c.1895_1896del (p.His632fs) rs1060501224
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.1942G>T (p.Glu648Ter) rs971882211
NM_004360.5(CDH1):c.1A>G (p.Met1Val) rs1555509622
NM_004360.5(CDH1):c.2165-1G>C rs1385720097
NM_004360.5(CDH1):c.2195G>A (p.Arg732Gln) rs1060501244
NM_004360.5(CDH1):c.2287G>T (p.Glu763Ter) rs587780787
NM_004360.5(CDH1):c.2296-1G>A rs1057517542
NM_004360.5(CDH1):c.2296-2A>G rs876660393
NM_004360.5(CDH1):c.2430del (p.Phe810fs) rs786203752
NM_004360.5(CDH1):c.2T>C (p.Met1Thr) rs1555509623
NM_004360.5(CDH1):c.2T>G (p.Met1Arg) rs1555509623
NM_004360.5(CDH1):c.377dup (p.Pro127fs) rs1060501215
NM_004360.5(CDH1):c.3G>A (p.Met1Ile) rs878854691
NM_004360.5(CDH1):c.48+1G>A rs1440280370
NM_004360.5(CDH1):c.49-1G>C
NM_004360.5(CDH1):c.49-2A>G rs1060501226
NM_004360.5(CDH1):c.532-1G>C rs771085839
NM_004360.5(CDH1):c.603del (p.Val202fs) rs1131690809
NM_004360.5(CDH1):c.656del (p.Pro219fs) rs1555515284
NM_004360.5(CDH1):c.687+1G>A rs1567504977
NM_004360.5(CDH1):c.687+1G>C rs1567504977
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg) rs587780537
NM_004360.5(CDH1):c.720del (p.Asn240fs) rs1131690819
NM_004360.5(CDH1):c.760G>A (p.Asp254Asn) rs1555515445
NM_004360.5(CDH1):c.832+1G>A rs878854697
NM_004360.5(CDH1):c.832+1G>T rs878854697
NM_004360.5(CDH1):c.833-2A>G rs1555515596

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