ClinVar Miner

List of variants in gene CDH1 reported as pathogenic for not provided

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Gene type:
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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter) rs587780784 0.00001
NM_004360.5(CDH1):c.1137+1G>A rs876660771 0.00001
NM_004360.5(CDH1):c.2164+2T>C rs876661120 0.00001
NC_000016.10:g.68828174_68828304del
NM_004360.4(CDH1):c.2440_2649del
NM_004360.5(CDH1):c.1036C>T (p.Gln346Ter) rs878854676
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>C rs886039685
NM_004360.5(CDH1):c.1320+1G>T rs886039685
NM_004360.5(CDH1):c.1460_1461del (p.Val487fs) rs1567508939
NM_004360.5(CDH1):c.1476_1477del (p.Arg492fs) rs876659208
NM_004360.5(CDH1):c.1488_1494del (p.Glu497fs) rs876658261
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>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.1577G>A (p.Trp526Ter) rs1596960298
NM_004360.5(CDH1):c.1578G>A (p.Trp526Ter) rs886039590
NM_004360.5(CDH1):c.1587dup (p.Ala530fs) rs1555516532
NM_004360.5(CDH1):c.1590dup (p.Asn531fs) rs1555516535
NM_004360.5(CDH1):c.1605del (p.Asn536fs) rs1596960393
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.1746dup (p.Leu583fs) rs1131690817
NM_004360.5(CDH1):c.1779dup (p.Ile594fs) rs876661118
NM_004360.5(CDH1):c.1792C>T (p.Arg598Ter) rs121964877
NM_004360.5(CDH1):c.190C>T (p.Gln64Ter) rs2152126639
NM_004360.5(CDH1):c.1939C>T (p.Gln647Ter) rs778195664
NM_004360.5(CDH1):c.1942G>T (p.Glu648Ter) rs971882211
NM_004360.5(CDH1):c.1999del (p.Leu667fs) rs786202033
NM_004360.5(CDH1):c.202del (p.Tyr68fs) rs786202151
NM_004360.5(CDH1):c.2037_2061dup (p.Cys688delinsHisLeuArgGlyGlnArgValTer) rs2152139420
NM_004360.5(CDH1):c.2064_2065del (p.Cys688_Glu689delinsTer) rs587781276
NM_004360.5(CDH1):c.2165-1G>C rs1385720097
NM_004360.5(CDH1):c.2195G>A (p.Arg732Gln) rs1060501244
NM_004360.5(CDH1):c.220C>T (p.Arg74Ter) rs876658932
NM_004360.5(CDH1):c.2276del (p.Gly759fs) rs1555517680
NM_004360.5(CDH1):c.2287G>T (p.Glu763Ter) rs587780787
NM_004360.5(CDH1):c.2296-1G>A rs1057517542
NM_004360.5(CDH1):c.2398del (p.Arg800fs) rs587783048
NM_004360.5(CDH1):c.2430del (p.Phe810fs) rs786203752
NM_004360.5(CDH1):c.26C>A (p.Ser9Ter) rs1555509646
NM_004360.5(CDH1):c.337A>T (p.Lys113Ter) rs876661106
NM_004360.5(CDH1):c.377del (p.Pro126fs) 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.489C>A (p.Cys163Ter) rs1064794230
NM_004360.5(CDH1):c.51_163+2del rs1567471351
NM_004360.5(CDH1):c.521dup (p.Asn174fs) rs587781290
NM_004360.5(CDH1):c.532-1G>C rs771085839
NM_004360.5(CDH1):c.583C>T (p.Gln195Ter) rs1960737851
NM_004360.5(CDH1):c.603del (p.Val202fs) rs1131690809
NM_004360.5(CDH1):c.707C>A (p.Ser236Ter) rs730881663
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.801del (p.Phe267fs)
NM_004360.5(CDH1):c.832+1G>A rs878854697
NM_004360.5(CDH1):c.833-2A>G rs1555515596

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