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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 74

Download table as spreadsheet

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
GRCh37/hg19 16q22.1(chr16:68754434-68796185)x1
NC_000016.10:g.68828174_68828304del
NM_004360.4(CDH1):c.2440_2649del
NM_004360.5(CDH1):c.1009_1010del (p.Ser337Phefs)	rs786201045
NM_004360.5(CDH1):c.1036C>T (p.Gln346Ter)	rs878854676
NM_004360.5(CDH1):c.1107del (p.Asn369fs)	rs1567507138
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.1601_1619del (p.Glu534fs)
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.182_183delinsGTG (p.Thr61fs)
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.2100del (p.Val701fs)	rs1555517136
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.283C>T (p.Gln95Ter)	rs781409616
NM_004360.5(CDH1):c.308G>A (p.Trp103Ter)	rs1555514464
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.423_424dup (p.Phe142fs)
NM_004360.5(CDH1):c.48+1G>A	rs1440280370
NM_004360.5(CDH1):c.489C>A (p.Cys163Ter)	rs1064794230
NM_004360.5(CDH1):c.49-2A>C
NM_004360.5(CDH1):c.504del (p.Gly169fs)	rs864622655
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.