ClinVar Miner

List of variants in gene CDH1 studied for ectodermal dysplasia syndrome

Included ClinVar conditions (215):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 85
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004360.5(CDH1):c.48+181G>C rs3743675 0.80468
NM_004360.5(CDH1):c.48+6C>T rs3743674 0.80384
NM_004360.5(CDH1):c.2076T>C (p.Ala692=) rs1801552 0.70379
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154 0.01412
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787 0.00311
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691 0.00129
NM_004360.5(CDH1):c.303C>T (p.Tyr101=) rs150789339 0.00027
NM_004360.5(CDH1):c.670C>T (p.Arg224Cys) rs200310662 0.00021
NM_004360.5(CDH1):c.1143G>C (p.Lys381Asn) rs143727462 0.00012
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile) rs370864592 0.00012
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) rs121964872 0.00011
NM_004360.5(CDH1):c.2644G>A (p.Asp882Asn) rs200104963 0.00009
NM_004360.5(CDH1):c.48+15_48+16del rs730881655 0.00006
NM_004360.5(CDH1):c.1501G>A (p.Val501Met) rs368690400 0.00004
NM_004360.5(CDH1):c.2336G>A (p.Arg779Gln) rs587781311 0.00004
NM_004360.5(CDH1):c.2474C>T (p.Pro825Leu) rs587781312 0.00004
NM_004360.5(CDH1):c.377C>T (p.Pro126Leu) rs746703615 0.00004
NM_004360.5(CDH1):c.84C>T (p.Cys28=) rs587780789 0.00004
NM_004360.5(CDH1):c.1225T>C (p.Trp409Arg) rs587778176 0.00003
NM_004360.5(CDH1):c.499G>A (p.Glu167Lys) rs769076258 0.00003
NM_004360.5(CDH1):c.1004G>A (p.Arg335Gln) rs373364873 0.00002
NM_004360.5(CDH1):c.1946C>T (p.Ser649Phe) rs1238607560 0.00002
NM_004360.5(CDH1):c.2098C>A (p.Pro700Thr) rs878854681 0.00002
NM_004360.5(CDH1):c.2371C>T (p.Leu791Phe) rs786202598 0.00002
NM_004360.5(CDH1):c.2558C>T (p.Ser853Leu) rs569928380 0.00002
NM_004360.5(CDH1):c.2590G>A (p.Glu864Lys) rs142927667 0.00002
NM_004360.5(CDH1):c.2595G>C (p.Trp865Cys) rs778019174 0.00002
NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter) rs587780784 0.00001
NM_004360.5(CDH1):c.1136C>T (p.Thr379Met) rs587782856 0.00001
NM_004360.5(CDH1):c.1171G>A (p.Val391Ile) rs556110297 0.00001
NM_004360.5(CDH1):c.1250A>G (p.Asn417Ser) rs773441320 0.00001
NM_004360.5(CDH1):c.1370C>T (p.Thr457Met) rs587778170 0.00001
NM_004360.5(CDH1):c.1843A>G (p.Ile615Val) rs1003012321 0.00001
NM_004360.5(CDH1):c.2358C>T (p.Asp786=) rs760701558 0.00001
NM_004360.5(CDH1):c.2369C>T (p.Thr790Ile) rs587780120 0.00001
NM_004360.5(CDH1):c.2380G>A (p.Val794Ile) rs587782466 0.00001
NM_004360.5(CDH1):c.2398C>T (p.Arg800Cys) rs587782162 0.00001
NM_004360.5(CDH1):c.2602C>A (p.Arg868Ser) rs864622630 0.00001
NM_004360.5(CDH1):c.2603G>A (p.Arg868His) rs369126891 0.00001
NM_004360.5(CDH1):c.322A>G (p.Arg108Gly) rs587778172 0.00001
NM_004360.5(CDH1):c.631A>G (p.Thr211Ala) rs587781766 0.00001
NM_004360.5(CDH1):c.1015C>G (p.Pro339Ala) rs1555515709
NM_004360.5(CDH1):c.1107C>A (p.Asn369Lys)
NM_004360.5(CDH1):c.1145del (p.Gly382fs) rs1555515863
NM_004360.5(CDH1):c.1147C>T (p.Gln383Ter) rs587782798
NM_004360.5(CDH1):c.1174G>C (p.Val392Leu) rs141864044
NM_004360.5(CDH1):c.1198G>A (p.Asp400Asn) rs1960893142
NM_004360.5(CDH1):c.1234G>A (p.Val412Ile) rs587782189
NM_004360.5(CDH1):c.1320+1G>C rs886039685
NM_004360.5(CDH1):c.1320G>A (p.Lys440=)
NM_004360.5(CDH1):c.1320G>T (p.Lys440Asn) rs1555515925
NM_004360.5(CDH1):c.1354_1357del (p.Leu452fs) rs886039612
NM_004360.5(CDH1):c.1371_1373del (p.Asn458del) rs2152134773
NM_004360.5(CDH1):c.1376T>C (p.Val459Ala) rs1555516109
NM_004360.5(CDH1):c.1403C>T (p.Thr468Ile) rs876659141
NM_004360.5(CDH1):c.1430T>C (p.Val477Ala)
NM_004360.5(CDH1):c.1492G>A (p.Asp498Asn) rs2152135021
NM_004360.5(CDH1):c.1585A>G (p.Thr529Ala) rs776890776
NM_004360.5(CDH1):c.1626T>G (p.Ile542Met) rs1961075798
NM_004360.5(CDH1):c.1649G>C (p.Arg550Thr) rs771649648
NM_004360.5(CDH1):c.1741C>T (p.Leu581Phe) rs1567512154
NM_004360.5(CDH1):c.1774G>T (p.Ala592Ser) rs35187787
NM_004360.5(CDH1):c.1927A>G (p.Asn643Asp) rs587781540
NM_004360.5(CDH1):c.2028C>A (p.Asp676Glu) rs1555517099
NM_004360.5(CDH1):c.202T>G (p.Tyr68Asp) rs1060501218
NM_004360.5(CDH1):c.2038A>G (p.Thr680Ala) rs876658936
NM_004360.5(CDH1):c.2064_2065del (p.Cys688_Glu689delinsTer) rs587781276
NM_004360.5(CDH1):c.2116C>G (p.Gln706Glu)
NM_004360.5(CDH1):c.220C>T (p.Arg74Ter) rs876658932
NM_004360.5(CDH1):c.2222T>C (p.Leu741Ser)
NM_004360.5(CDH1):c.2356G>A (p.Asp786Asn) rs876659218
NM_004360.5(CDH1):c.2435A>G (p.Asp812Gly) rs878854684
NM_004360.5(CDH1):c.2578G>C (p.Asp860His) rs1412506259
NM_004360.5(CDH1):c.2623A>G (p.Met875Val) rs1555518287
NM_004360.5(CDH1):c.320A>G (p.Tyr107Cys) rs1060501241
NM_004360.5(CDH1):c.321C>G (p.Tyr107Ter) rs765929630
NM_004360.5(CDH1):c.382del (p.His128fs) rs1555514492
NM_004360.5(CDH1):c.466T>G (p.Trp156Gly)
NM_004360.5(CDH1):c.488G>C (p.Cys163Ser) rs748783182
NM_004360.5(CDH1):c.56C>G (p.Ser19Cys) rs1221633501
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg) rs587780537
NM_004360.5(CDH1):c.760G>T (p.Asp254Tyr) rs1555515445
NM_004360.5(CDH1):c.779C>T (p.Pro260Leu) rs1960783816
NM_004360.5(CDH1):c.862G>C (p.Asp288His) rs2152131922
NM_004360.5(CDH1):c.946A>G (p.Met316Val) rs761182866

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.