ClinVar Miner

List of variants reported as likely benign by ClinGen CDH1 Variant Curation Expert Panel

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 63
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004360.5(CDH1):c.1138-3C>T rs36103202 0.00042
NM_004360.5(CDH1):c.8C>G (p.Pro3Arg) rs587782484 0.00023
NM_004360.5(CDH1):c.33G>C (p.Leu11=) rs730881654 0.00022
NM_004360.5(CDH1):c.670C>T (p.Arg224Cys) rs200310662 0.00021
NM_004360.5(CDH1):c.2329G>A (p.Asp777Asn) rs372989292 0.00015
NM_004360.5(CDH1):c.394G>A (p.Val132Ile) rs142498771 0.00015
NM_004360.5(CDH1):c.2635G>A (p.Gly879Ser) rs200911775 0.00013
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) rs121964872 0.00011
NM_004360.5(CDH1):c.2451G>A (p.Ala817=) rs149450874 0.00010
NM_004360.5(CDH1):c.164T>G (p.Val55Gly) rs587778174 0.00008
NM_004360.5(CDH1):c.1297G>A (p.Asp433Asn) rs199886166 0.00007
NM_004360.5(CDH1):c.214G>A (p.Asp72Asn) rs35606263 0.00006
NM_004360.5(CDH1):c.2343A>T (p.Glu781Asp) rs587780119 0.00006
NM_004360.5(CDH1):c.49-3C>T rs587782366 0.00006
NM_004360.5(CDH1):c.1019C>T (p.Thr340Met) rs61747631 0.00005
NM_004360.5(CDH1):c.1174G>A (p.Val392Ile) rs141864044 0.00004
NM_004360.5(CDH1):c.1865A>G (p.Asn622Ser) rs147925149 0.00004
NM_004360.5(CDH1):c.2020A>T (p.Asn674Tyr) rs201637081 0.00004
NM_004360.5(CDH1):c.1225T>C (p.Trp409Arg) rs587778176 0.00003
NM_004360.5(CDH1):c.1360G>A (p.Val454Ile) rs587780112 0.00003
NM_004360.5(CDH1):c.1417G>A (p.Val473Ile) rs36087757 0.00003
NM_004360.5(CDH1):c.160A>G (p.Arg54Gly) rs587781329 0.00003
NM_004360.5(CDH1):c.184G>A (p.Gly62Ser) rs587781898 0.00003
NM_004360.5(CDH1):c.221G>A (p.Arg74Gln) rs761562625 0.00003
NM_004360.5(CDH1):c.499G>A (p.Glu167Lys) rs769076258 0.00003
NM_004360.5(CDH1):c.1118C>T (p.Pro373Leu) rs587782359 0.00002
NM_004360.5(CDH1):c.1273G>A (p.Val425Ile) rs570930882 0.00002
NM_004360.5(CDH1):c.1684A>G (p.Thr562Ala) rs587782061 0.00002
NM_004360.5(CDH1):c.2131C>G (p.Leu711Val) rs121964871 0.00002
NM_004360.5(CDH1):c.269G>A (p.Arg90Gln) rs587782647 0.00002
NM_004360.5(CDH1):c.344C>T (p.Thr115Met) rs370973869 0.00002
NM_004360.5(CDH1):c.371G>A (p.Arg124His) rs115418995 0.00002
NM_004360.5(CDH1):c.4G>A (p.Gly2Ser) rs786201212 0.00002
NM_004360.5(CDH1):c.866C>T (p.Ala289Val) rs780399325 0.00002
NM_004360.5(CDH1):c.1136C>T (p.Thr379Met) rs587782856 0.00001
NM_004360.5(CDH1):c.125C>T (p.Pro42Leu) rs876659333 0.00001
NM_004360.5(CDH1):c.1493A>C (p.Asp498Ala) rs876661065 0.00001
NM_004360.5(CDH1):c.150C>A (p.Arg50=) rs786201262 0.00001
NM_004360.5(CDH1):c.2053G>A (p.Val685Met) rs550612843 0.00001
NM_004360.5(CDH1):c.370C>T (p.Arg124Cys) rs748086082 0.00001
NM_004360.5(CDH1):c.387+6T>C rs764434962 0.00001
NM_004360.5(CDH1):c.724G>A (p.Val242Ile) rs111662525 0.00001
NM_004360.5(CDH1):c.731A>G (p.Asp244Gly) rs1064794231 0.00001
NM_004360.5(CDH1):c.113C>A (p.Thr38Lys) rs587778171
NM_004360.5(CDH1):c.113C>T (p.Thr38Met) rs587778171
NM_004360.5(CDH1):c.120G>A (p.Thr40=) rs786201115
NM_004360.5(CDH1):c.1416C>T (p.Thr472=) rs139937234
NM_004360.5(CDH1):c.161G>A (p.Arg54Lys) rs876658680
NM_004360.5(CDH1):c.163+4_163+6dup rs1205684749
NM_004360.5(CDH1):c.164-4G>A rs780375749
NM_004360.5(CDH1):c.173A>T (p.Glu58Val) rs786202570
NM_004360.5(CDH1):c.2076_2077inv (p.Gly693Ser)
NM_004360.5(CDH1):c.223T>C (p.Phe75Leu) rs587782193
NM_004360.5(CDH1):c.270G>A (p.Arg90=) rs777822181
NM_004360.5(CDH1):c.297G>A (p.Leu99=) rs876660223
NM_004360.5(CDH1):c.300C>G (p.Val100=) rs786201463
NM_004360.5(CDH1):c.32TGC[6] (p.Leu15dup) rs587782476
NM_004360.5(CDH1):c.32TGC[7] (p.Leu14_Leu15dup) rs587782476
NM_004360.5(CDH1):c.48+5C>T rs77312180
NM_004360.5(CDH1):c.49-8C>T rs774761552
NM_004360.5(CDH1):c.49-9C>A rs1555509752
NM_004360.5(CDH1):c.69G>A (p.Gln23=) rs786202657
NM_004360.5(CDH1):c.92G>T (p.Gly31Val) rs1131690823

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.