ClinVar Miner

List of variants studied for autosomal recessive hypohidrotic ectodermal dysplasia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 168
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022336.4(EDAR):c.750C>T (p.Ser250=) rs260632 0.90287
NM_022336.4(EDAR):c.*42G>T rs7607563 0.86887
NM_145861.4(EDARADD):c.27G>A (p.Met9Ile) rs966365 0.75593
NM_022336.4(EDAR):c.*1129A>G rs13001699 0.74105
NM_022336.4(EDAR):c.1056C>T (p.Cys352=) rs12623957 0.72397
NM_022336.4(EDAR):c.*1598T>C rs10865025 0.70934
NM_022336.4(EDAR):c.*2426C>T rs1478517 0.52218
NM_145861.4(EDARADD):c.*1562T>C rs7513402 0.31448
NM_145861.4(EDARADD):c.369C>T (p.Asp123=) rs604070 0.18581
NM_145861.4(EDARADD):c.*1787C>T rs6428955 0.17627
NM_022336.4(EDAR):c.*935C>T rs3749096 0.14095
NM_022336.4(EDAR):c.*757T>C rs3749097 0.08815
NM_022336.4(EDAR):c.357-4G>A rs748225 0.07354
NM_022336.4(EDAR):c.1109T>C (p.Val370Ala) rs3827760 0.05968
NM_022336.4(EDAR):c.*1248G>T rs75155869 0.05209
NM_145861.4(EDARADD):c.*1593G>T rs61736989 0.04569
NM_145861.4(EDARADD):c.-3G>A rs79233817 0.04402
NM_145861.4(EDARADD):c.*1613T>C rs61737025 0.04028
NM_022336.4(EDAR):c.*1900C>T rs200762071 0.03161
NM_022336.4(EDAR):c.*1133C>T rs114097029 0.03003
NM_145861.4(EDARADD):c.*682G>A rs61740486 0.02320
NM_145861.4(EDARADD):c.60G>A (p.Glu20=) rs60808129 0.02304
NM_022336.4(EDAR):c.*895C>T rs115259025 0.02162
NM_145861.4(EDARADD):c.308C>T (p.Ser103Phe) rs114632254 0.02153
NM_022336.4(EDAR):c.*999C>T rs10206737 0.02037
NM_145861.4(EDARADD):c.*678A>C rs61740488 0.01970
NM_022336.4(EDAR):c.*328G>A rs75703116 0.01927
NM_022336.4(EDAR):c.*1107C>T rs73952545 0.01003
NM_022336.4(EDAR):c.736G>A (p.Val246Met) rs79798733 0.00877
NM_145861.4(EDARADD):c.*966A>G rs61740489 0.00838
NM_145861.4(EDARADD):c.*1174A>G rs61511776 0.00836
NM_145861.4(EDARADD):c.*1887G>A rs114783553 0.00647
NM_145861.4(EDARADD):c.*285G>A rs142266831 0.00512
NM_022336.4(EDAR):c.870C>T (p.Pro290=) rs3749099 0.00493
NM_022336.4(EDAR):c.1179C>T (p.Asp393=) rs115930248 0.00401
NM_022336.4(EDAR):c.*254C>T rs148961371 0.00400
NM_022336.4(EDAR):c.813T>C (p.Asp271=) rs3749098 0.00390
NM_022336.4(EDAR):c.723G>A (p.Glu241=) rs3749108 0.00388
NM_022336.4(EDAR):c.*2078T>C rs115501541 0.00324
NM_022336.4(EDAR):c.*1366A>G rs187951842 0.00322
NM_145861.4(EDARADD):c.*417G>A rs189781826 0.00303
NM_022336.4(EDAR):c.319A>G (p.Met107Val) rs61761321 0.00302
NM_145861.4(EDARADD):c.393G>A (p.Pro131=) rs139996586 0.00254
NM_145861.4(EDARADD):c.*1438C>T rs201710490 0.00217
NM_145861.4(EDARADD):c.120+7G>A rs149429886 0.00125
NM_145861.4(EDARADD):c.161-13T>C rs184596437 0.00110
NM_022336.4(EDAR):c.*1364T>G rs147757790 0.00105
NM_022336.4(EDAR):c.849C>T (p.Ser283=) rs145796324 0.00093
NM_022336.4(EDAR):c.*1774G>A rs189855301 0.00091
NM_022336.4(EDAR):c.-189T>C rs569682476 0.00078
NM_022336.4(EDAR):c.-238C>T rs529174103 0.00054
NM_022336.4(EDAR):c.1138A>C (p.Ser380Arg) rs146567337 0.00054
NM_022336.4(EDAR):c.*625C>A rs781048595 0.00047
NM_022336.4(EDAR):c.243A>G (p.Lys81=) rs145518416 0.00043
NM_022336.4(EDAR):c.*1108G>A rs564052014 0.00042
NM_022336.4(EDAR):c.960C>T (p.Ala320=) rs10432616 0.00039
NM_145861.4(EDARADD):c.*1072C>T rs988277282 0.00039
NM_145861.4(EDARADD):c.*757A>C rs201197563 0.00036
NM_145861.4(EDARADD):c.*967A>G rs193138062 0.00036
NM_022336.4(EDAR):c.731-4G>T rs201539805 0.00035
NM_145861.4(EDARADD):c.*195G>T rs775159272 0.00028
NM_145861.4(EDARADD):c.*272G>A rs760609411 0.00025
NM_022336.4(EDAR):c.607G>A (p.Val203Ile) rs148212997 0.00024
NM_145861.4(EDARADD):c.*765G>A rs573814452 0.00023
NM_145861.4(EDARADD):c.*1250C>T rs1018635371 0.00021
NM_022336.4(EDAR):c.207C>T (p.Tyr69=) rs147059377 0.00019
NM_145861.4(EDARADD):c.*2052C>T rs759188384 0.00017
NM_022336.4(EDAR):c.*1798G>C rs756408508 0.00016
NM_145861.4(EDARADD):c.*1722C>T rs559506851 0.00015
NM_022336.4(EDAR):c.68C>T (p.Ser23Leu) rs760731007 0.00014
NM_022336.4(EDAR):c.*188G>C rs768401042 0.00013
NM_022336.4(EDAR):c.-256C>T rs970357940 0.00012
NM_022336.4(EDAR):c.*499C>T rs886054743 0.00011
NM_145861.4(EDARADD):c.*1738A>G rs878897423 0.00010
NM_022336.4(EDAR):c.*2189G>T rs547979348 0.00008
NM_145861.4(EDARADD):c.*863C>T rs570062425 0.00008
NM_022336.4(EDAR):c.*1710G>C rs1042398708 0.00006
NM_022336.4(EDAR):c.*402G>A rs758376546 0.00006
NM_022336.4(EDAR):c.-226T>C rs886054748 0.00006
NM_022336.4(EDAR):c.224C>T (p.Pro75Leu) rs748806220 0.00006
NM_145861.4(EDARADD):c.*1004G>A rs750918090 0.00006
NM_145861.4(EDARADD):c.*100C>T rs886046187 0.00006
NM_145861.4(EDARADD):c.*1508C>T rs886046196 0.00006
NM_022336.4(EDAR):c.675G>A (p.Pro225=) rs746044070 0.00005
NM_022336.4(EDAR):c.*191C>T rs780909525 0.00004
NM_022336.4(EDAR):c.*639T>G rs750539909 0.00004
NM_022336.4(EDAR):c.-18-14C>T rs532111960 0.00004
NM_022336.4(EDAR):c.156G>A (p.Pro52=) rs3749101 0.00004
NM_022336.4(EDAR):c.208G>A (p.Gly70Ser) rs759735008 0.00004
NM_022336.4(EDAR):c.463G>A (p.Ala155Thr) rs370972367 0.00004
NM_145861.4(EDARADD):c.*1149G>A rs886046194 0.00004
NM_145861.4(EDARADD):c.*1303T>G rs780044781 0.00004
NM_022336.4(EDAR):c.674C>T (p.Pro225Leu) rs376622302 0.00003
NM_145861.4(EDARADD):c.*2008G>A rs184215335 0.00003
NM_145861.4(EDARADD):c.*921G>A rs886046192 0.00003
NM_145861.4(EDARADD):c.600C>T (p.Asp200=) rs74942492 0.00003
NM_022336.4(EDAR):c.*1435G>A rs1193003358 0.00002
NM_022336.4(EDAR):c.*1678C>T rs565595816 0.00002
NM_022336.4(EDAR):c.802A>T (p.Ser268Cys) rs770872155 0.00002
NM_145861.4(EDARADD):c.*1985A>G rs774501424 0.00002
NM_022336.4(EDAR):c.*1298G>C rs1696567664 0.00001
NM_022336.4(EDAR):c.*1703G>A rs1459775112 0.00001
NM_022336.4(EDAR):c.*1761G>A rs886054737 0.00001
NM_022336.4(EDAR):c.*242T>C rs1398672274 0.00001
NM_022336.4(EDAR):c.*602T>A rs886054742 0.00001
NM_022336.4(EDAR):c.-71C>G rs1207037322 0.00001
NM_022336.4(EDAR):c.186C>T (p.Tyr62=) rs751600128 0.00001
NM_022336.4(EDAR):c.259T>C (p.Cys87Arg) rs121908451 0.00001
NM_022336.4(EDAR):c.560C>T (p.Ala187Val) rs1411472080 0.00001
NM_022336.4(EDAR):c.606C>T (p.Ile202=) rs201950451 0.00001
NM_145861.4(EDARADD):c.*12T>C rs568663942 0.00001
NM_145861.4(EDARADD):c.*1535C>T rs202115969 0.00001
NM_145861.4(EDARADD):c.*1809C>T rs878900513 0.00001
NM_145861.4(EDARADD):c.*1871C>T rs886046197 0.00001
NM_145861.4(EDARADD):c.*719C>T rs188977509 0.00001
NM_145861.4(EDARADD):c.*920C>T rs1242190032 0.00001
NM_145861.4(EDARADD):c.115A>G (p.Asn39Asp) rs759461234 0.00001
NM_145861.4(EDARADD):c.121-6C>G rs1476912628 0.00001
NM_145861.4(EDARADD):c.587G>A (p.Arg196His) rs483352767 0.00001
NM_022336.4(EDAR):c.*1181C>T rs886054741
NM_022336.4(EDAR):c.*1199C>T rs372575462
NM_022336.4(EDAR):c.*1226A>C rs886054740
NM_022336.4(EDAR):c.*1319C>G rs886054739
NM_022336.4(EDAR):c.*1535C>T rs886054738
NM_022336.4(EDAR):c.*1563C>T rs1696563393
NM_022336.4(EDAR):c.*1647C>T rs1696561495
NM_022336.4(EDAR):c.*2016G>C rs1436268689
NM_022336.4(EDAR):c.*2141T>C rs566201941
NM_022336.4(EDAR):c.*2376T>C rs1696543184
NM_022336.4(EDAR):c.*447T>C rs1264182094
NM_022336.4(EDAR):c.*485C>T rs970440390
NM_022336.4(EDAR):c.*486G>A rs1386736657
NM_022336.4(EDAR):c.*546C>T rs1696591208
NM_022336.4(EDAR):c.*714T>G rs1348733331
NM_022336.4(EDAR):c.*791A>T rs1696582725
NM_022336.4(EDAR):c.*867A>G rs967989414
NM_022336.4(EDAR):c.*976A>G rs142529386
NM_022336.4(EDAR):c.-129G>T rs886054747
NM_022336.4(EDAR):c.-235G>A rs886054749
NM_022336.4(EDAR):c.-30A>C rs886054746
NM_022336.4(EDAR):c.-4G>A rs886054745
NM_022336.4(EDAR):c.1017C>T (p.Val339=) rs201434694
NM_022336.4(EDAR):c.1029T>C (p.Leu343=) rs1020417678
NM_022336.4(EDAR):c.1183A>G (p.Met395Val) rs537348349
NM_022336.4(EDAR):c.1288G>A (p.Asp430Asn) rs886054744
NM_022336.4(EDAR):c.146C>T (p.Pro49Leu) rs375891208
NM_022336.4(EDAR):c.719_722del (p.Lys240fs) rs797044436
NM_022336.4(EDAR):c.822C>A (p.Ser274=) rs79648056
NM_022336.4(EDAR):c.844C>T (p.Arg282Trp) rs781652310
NM_022336.4(EDAR):c.849C>A (p.Ser283Arg) rs145796324
NM_145861.4(EDARADD):c.*1012A>G rs572366811
NM_145861.4(EDARADD):c.*115A>G rs886046188
NM_145861.4(EDARADD):c.*1262C>T rs956560100
NM_145861.4(EDARADD):c.*1601C>A rs3916983
NM_145861.4(EDARADD):c.*1601C>G rs3916983
NM_145861.4(EDARADD):c.*1723G>A rs940030231
NM_145861.4(EDARADD):c.*1788G>A rs1053380939
NM_145861.4(EDARADD):c.*1962C>T rs111987152
NM_145861.4(EDARADD):c.*2018C>G rs886046198
NM_145861.4(EDARADD):c.*354G>C rs886046190
NM_145861.4(EDARADD):c.*558C>T rs1309549108
NM_145861.4(EDARADD):c.*586T>C rs886046191
NM_145861.4(EDARADD):c.*746G>T rs745456566
NM_145861.4(EDARADD):c.*956C>T rs201986008
NM_145861.4(EDARADD):c.*971C>T rs886046193
NM_145861.4(EDARADD):c.220-15C>T rs886046185
NM_145861.4(EDARADD):c.302C>T (p.Thr101Ile) rs886046186
NM_145861.4(EDARADD):c.571G>T (p.Val191Leu) rs375789023

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.