ClinVar Miner

List of variants in gene CDH3 studied for ectodermal dysplasia syndrome

Included ClinVar conditions (215):
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Gene type:
ClinVar version:
Total variants: 134
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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.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.1652G>A (p.Arg551His) rs779413254 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.1086G>A (p.Trp362Ter) rs779888126 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.1508G>A (p.Arg503His) rs121434542 0.00001
NM_001793.6(CDH3):c.160+1G>A rs1474181679 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.661C>T (p.Arg221Ter) rs761941770 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.1063G>T (p.Asp355Tyr) rs1597809479
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.1795+1G>C rs752131891
NM_001793.6(CDH3):c.1796-11G>T rs752252704
NM_001793.6(CDH3):c.1918T>G (p.Cys640Gly) rs1597817636
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.307C>T (p.Arg103Ter) rs1157108621
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.747C>A (p.Tyr249Ter) rs1597807758
NM_001793.6(CDH3):c.830G>A (p.Gly277Asp) rs1597807897
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
NM_001793.6(CDH3):c.981del (p.Met327fs) rs724159984

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