ClinVar Miner

List of variants studied for EEM syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 123
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001793.6(CDH3):c.390+37T>C rs2296410 0.87073
NM_001793.6(CDH3):c.*154G>T rs1886699 0.85426
NM_001793.6(CDH3):c.720G>A (p.Thr240=) rs2296409 0.63066
NM_001793.6(CDH3):c.813C>A (p.Thr271=) rs2296408 0.62977
NM_001793.6(CDH3):c.1626T>C (p.Asn542=) rs2296405 0.62283
NM_001793.6(CDH3):c.1956G>A (p.Lys652=) rs2274239 0.61024
NM_001793.6(CDH3):c.2239C>A (p.Arg747=) rs17715450 0.53279
NM_001793.6(CDH3):c.160+117G>A rs2236393 0.44521
NM_001793.6(CDH3):c.247-38A>G rs1952048 0.43462
NM_001793.6(CDH3):c.1689G>C (p.Gln563His) rs1126933 0.32131
NM_001793.5(CDH3):c.-537A>G rs11644435 0.22872
NM_001793.6(CDH3):c.1430G>A (p.Arg477His) rs34494880 0.04895
NM_001793.6(CDH3):c.1257G>A (p.Lys419=) rs11860187 0.02870
NM_001793.6(CDH3):c.1285G>A (p.Val429Ile) rs34394404 0.00905
NM_001793.6(CDH3):c.2280+7C>T rs114709429 0.00779
NM_001793.5(CDH3):c.-399G>C rs74674351 0.00688
NM_001793.6(CDH3):c.996+13C>T rs114408705 0.00573
NM_001793.5(CDH3):c.-267C>T rs182969772 0.00570
NM_001793.6(CDH3):c.*195G>T rs114591853 0.00526
NM_001793.6(CDH3):c.2058C>T (p.Pro686=) rs116035854 0.00373
NM_001793.6(CDH3):c.*485A>G rs192275133 0.00369
NM_001793.6(CDH3):c.805A>C (p.Met269Leu) rs36038900 0.00341
NM_001793.6(CDH3):c.1500C>T (p.Thr500=) rs35232945 0.00241
NM_001793.6(CDH3):c.1087C>T (p.Arg363Cys) rs74026937 0.00225
NM_001793.6(CDH3):c.1436T>C (p.Leu479Pro) rs138190335 0.00175
NM_001793.6(CDH3):c.*87G>C rs555473968 0.00166
NM_001793.4(CDH3):c.-646_-645insA rs886052221 0.00124
NM_001793.6(CDH3):c.1681G>A (p.Val561Met) rs151198926 0.00118
NM_001793.6(CDH3):c.141C>G (p.Pro47=) rs74619658 0.00086
NM_001793.6(CDH3):c.2356G>A (p.Gly786Ser) rs34813787 0.00079
NM_001793.5(CDH3):c.-193G>T rs550203444 0.00076
NM_001793.5(CDH3):c.-72T>C rs557660477 0.00074
NM_001793.4(CDH3):c.-679T>C rs150247850 0.00068
NM_001793.6(CDH3):c.1785C>T (p.Val595=) rs376302917 0.00063
NM_001793.5(CDH3):c.-141C>G rs537339409 0.00061
NM_001793.6(CDH3):c.909G>T (p.Met303Ile) rs148535251 0.00061
NM_001793.6(CDH3):c.1443C>T (p.Asp481=) rs144403828 0.00053
NM_001793.4(CDH3):c.-634_-633insG rs886052224 0.00041
NM_001793.4(CDH3):c.-635_-634insG rs886052222 0.00039
NM_001793.4(CDH3):c.-621G>A rs886052225 0.00036
NM_001793.6(CDH3):c.-36C>T rs373351410 0.00035
NM_001793.4(CDH3):c.-983A>G rs151123159 0.00025
NM_001793.6(CDH3):c.918C>T (p.Asp306=) rs201521473 0.00019
NM_001793.6(CDH3):c.*3G>T rs372478072 0.00017
NM_001793.6(CDH3):c.*142C>T rs571959258 0.00016
NM_001793.6(CDH3):c.1339G>A (p.Val447Ile) rs145160881 0.00016
NM_001793.6(CDH3):c.2042G>A (p.Arg681Gln) rs758614807 0.00014
NM_001793.6(CDH3):c.*405G>A rs778268579 0.00013
NM_001793.6(CDH3):c.390+5G>A rs570628442 0.00013
NM_001793.4(CDH3):c.-1085A>G rs768872455 0.00011
NM_001793.6(CDH3):c.*498G>A rs746152331 0.00010
NM_001793.6(CDH3):c.2361C>T (p.Ser787=) rs201352240 0.00010
NM_001793.6(CDH3):c.1632T>G (p.His544Gln) rs779777939 0.00008
NM_001793.6(CDH3):c.798C>T (p.His266=) rs748455192 0.00008
NM_001793.6(CDH3):c.2115G>A (p.Gly705=) rs200124759 0.00007
NM_001793.6(CDH3):c.318G>A (p.Lys106=) rs886052229 0.00007
NM_001793.6(CDH3):c.1593G>A (p.Thr531=) rs147208782 0.00006
NM_001793.6(CDH3):c.2419G>A (p.Asp807Asn) rs535174122 0.00006
NM_001793.6(CDH3):c.34C>T (p.Leu12Phe) rs373974671 0.00006
NM_001793.6(CDH3):c.1240G>A (p.Ala414Thr) rs145203128 0.00005
NM_001793.6(CDH3):c.2227A>G (p.Met743Val) rs367654075 0.00005
NM_001793.6(CDH3):c.2469C>T (p.Tyr823=) rs576190086 0.00005
NM_001793.6(CDH3):c.547-12T>C rs370978420 0.00005
NM_001793.6(CDH3):c.-11T>C rs370893872 0.00004
NM_001793.6(CDH3):c.1011G>C (p.Val337=) rs201726457 0.00004
NM_001793.6(CDH3):c.109A>T (p.Thr37Ser) rs374627741 0.00004
NM_001793.6(CDH3):c.1221C>T (p.Tyr407=) rs368241091 0.00004
NM_001793.6(CDH3):c.1808T>C (p.Val603Ala) rs367858076 0.00004
NM_001793.6(CDH3):c.2362G>A (p.Asp788Asn) rs377354522 0.00004
NM_001793.6(CDH3):c.654C>T (p.Asp218=) rs763136509 0.00004
NM_001793.6(CDH3):c.867+6T>C rs753122508 0.00004
NM_001793.6(CDH3):c.1652G>A (p.Arg551His) rs779413254 0.00003
NM_001793.6(CDH3):c.2484C>T (p.Asp828=) rs202210726 0.00003
NM_001793.5(CDH3):c.-302C>T rs145687049 0.00002
NM_001793.6(CDH3):c.*2C>T rs777390548 0.00002
NM_001793.6(CDH3):c.*529G>A rs886052235 0.00002
NM_001793.6(CDH3):c.*535G>A rs955104733 0.00002
NM_001793.6(CDH3):c.1571-7C>G rs373529822 0.00002
NM_001793.6(CDH3):c.166A>G (p.Met56Val) rs886052228 0.00002
NM_001793.6(CDH3):c.691G>C (p.Gly231Arg) rs886052230 0.00002
NM_001793.6(CDH3):c.854G>T (p.Gly285Val) rs753255861 0.00002
NM_001793.5(CDH3):c.-282G>T rs886052226 0.00001
NM_001793.6(CDH3):c.1050G>A (p.Thr350=) rs551272419 0.00001
NM_001793.6(CDH3):c.1119C>T (p.Asp373=) rs995548981 0.00001
NM_001793.6(CDH3):c.1199C>G (p.Ala400Gly) rs112133581 0.00001
NM_001793.6(CDH3):c.1284G>A (p.Val428=) rs911987634 0.00001
NM_001793.6(CDH3):c.1848C>T (p.Asp616=) rs768811436 0.00001
NM_001793.6(CDH3):c.1932C>T (p.Val644=) rs750805163 0.00001
NM_001793.6(CDH3):c.2061C>T (p.Leu687=) rs1567457224 0.00001
NM_001793.6(CDH3):c.2340C>T (p.Phe780=) rs1425381774 0.00001
NM_001793.6(CDH3):c.2444G>A (p.Arg815His) rs557740168 0.00001
NM_001793.6(CDH3):c.324T>C (p.Asp108=) rs780231573 0.00001
NM_001793.6(CDH3):c.46-11C>T rs1191322448 0.00001
NM_001793.6(CDH3):c.475G>A (p.Ala159Thr) rs773525226 0.00001
NM_001793.6(CDH3):c.820C>T (p.Arg274Trp) rs199812197 0.00001
NM_001793.6(CDH3):c.886C>G (p.Leu296Val) rs565345878 0.00001
NM_001793.4(CDH3):c.-628G>A rs796187375
NM_001793.4(CDH3):c.-629dup rs11440411
NM_001793.4(CDH3):c.-633_-627AAAAAGA[1] rs886052223
NM_001793.5(CDH3):c.-140G>T rs886052227
NM_001793.6(CDH3):c.*149G>T rs549357874
NM_001793.6(CDH3):c.*180G>C rs1961820138
NM_001793.6(CDH3):c.*523G>A rs1961830575
NM_001793.6(CDH3):c.*595G>A rs111487714
NM_001793.6(CDH3):c.*87G>T rs555473968
NM_001793.6(CDH3):c.100G>A (p.Ala34Thr) rs749754991
NM_001793.6(CDH3):c.1043G>A (p.Arg348Lys) rs886052231
NM_001793.6(CDH3):c.1178G>A (p.Arg393Lys) rs766325919
NM_001793.6(CDH3):c.1183-12C>T rs886052232
NM_001793.6(CDH3):c.1740G>C (p.Gln580His) rs886052233
NM_001793.6(CDH3):c.1796-11G>T rs752252704
NM_001793.6(CDH3):c.1984G>A (p.Ala662Thr) rs372221192
NM_001793.6(CDH3):c.2070A>G (p.Pro690=) rs886052234
NM_001793.6(CDH3):c.2087del (p.Asp696fs) rs1961688932
NM_001793.6(CDH3):c.2251C>A (p.Pro751Thr) rs1961708493
NM_001793.6(CDH3):c.2281-45A>C rs3114409
NM_001793.6(CDH3):c.2305C>A (p.Pro769Thr) rs775268226
NM_001793.6(CDH3):c.45+6C>T rs562645181
NM_001793.6(CDH3):c.612C>A (p.Ile204=) rs8049247
NM_001793.6(CDH3):c.651G>C (p.Gln217His) rs1961118084
NM_001793.6(CDH3):c.830del (p.Gly277fs) rs724159985
NM_001793.6(CDH3):c.958G>A (p.Asp320Asn)
NM_001793.6(CDH3):c.965A>T (p.Asn322Ile) rs121434543

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.