ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive hypohidrotic ectodermal dysplasia

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 161
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HGVS dbSNP gnomAD frequency
NM_022336.4(EDAR):c.-238C>T rs529174103 0.00054
NM_022336.4(EDAR):c.*625C>A rs781048595 0.00047
NM_022336.4(EDAR):c.*1108G>A rs564052014 0.00042
NM_145861.4(EDARADD):c.*1072C>T rs988277282 0.00039
NM_022336.4(EDAR):c.1000G>A (p.Ala334Thr) rs752662417 0.00036
NM_145861.4(EDARADD):c.*757A>C rs201197563 0.00036
NM_145861.4(EDARADD):c.*272G>A rs760609411 0.00032
NM_145861.4(EDARADD):c.*195G>T rs775159272 0.00028
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_145861.4(EDARADD):c.*2052C>T rs759188384 0.00017
NM_022336.4(EDAR):c.*1798G>C rs756408508 0.00016
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_022336.4(EDAR):c.122C>A (p.Thr41Lys) rs368553609 0.00011
NM_145861.4(EDARADD):c.*1508C>T rs886046196 0.00011
NM_022336.4(EDAR):c.*2189G>T rs547979348 0.00008
NM_022336.4(EDAR):c.1038G>A (p.Thr346=) rs141067689 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.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.509G>A (p.Arg170Gln) rs757261515 0.00006
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.-226T>C rs886054748 0.00004
NM_022336.4(EDAR):c.208G>A (p.Gly70Ser) rs759735008 0.00004
NM_022336.4(EDAR):c.991G>A (p.Asp331Asn) rs374079078 0.00004
NM_145861.4(EDARADD):c.*1149G>A rs886046194 0.00004
NM_145861.4(EDARADD):c.*1303T>G rs780044781 0.00004
NM_145861.4(EDARADD):c.*1738A>G rs878897423 0.00004
NM_022336.4(EDAR):c.1156G>A (p.Asp386Asn) rs149835516 0.00003
NM_022336.4(EDAR):c.674C>T (p.Pro225Leu) rs376622302 0.00003
NM_145861.4(EDARADD):c.*2008G>A rs184215335 0.00003
NM_022336.4(EDAR):c.*1435G>A rs1193003358 0.00002
NM_022336.4(EDAR):c.167C>G (p.Pro56Arg) rs770245989 0.00002
NM_022336.4(EDAR):c.187G>A (p.Gly63Ser) rs764223500 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_145861.4(EDARADD):c.*921G>A rs886046192 0.00002
NM_145861.4(EDARADD):c.392C>T (p.Pro131Leu) rs1005957166 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.1006G>A (p.Val336Met) rs1300767499 0.00001
NM_022336.4(EDAR):c.1175C>T (p.Thr392Ile) rs899642068 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.569T>C (p.Ile190Thr) rs1696920814 0.00001
NM_022336.4(EDAR):c.606C>T (p.Ile202=) rs201950451 0.00001
NM_022336.4(EDAR):c.71C>A (p.Ala24Asp) rs1306259287 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.121-6C>G rs1476912628 0.00001
NM_145861.4(EDARADD):c.199A>T (p.Asn67Tyr) rs751704449 0.00001
NM_145861.4(EDARADD):c.568G>A (p.Asp190Asn) rs748587639 0.00001
NM_145861.4(EDARADD):c.587G>A (p.Arg196His) rs483352767 0.00001
NC_000001.10:g.(?_236631511)_(236645949_?)dup
NC_000002.11:g.(?_109336043)_(109579739_?)dup
NC_000002.11:g.(?_109367964)_(109579739_?)dup
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.*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.1018G>A (p.Val340Met)
NM_022336.4(EDAR):c.1029T>C (p.Leu343=) rs1020417678
NM_022336.4(EDAR):c.1057C>T (p.Leu353Phe)
NM_022336.4(EDAR):c.1061AGA[1] (p.Lys355del) rs1574362124
NM_022336.4(EDAR):c.1094A>G (p.Asn365Ser) rs1696614928
NM_022336.4(EDAR):c.1130T>C (p.Leu377Pro) rs1696613834
NM_022336.4(EDAR):c.1142T>C (p.Phe381Ser) rs1574361959
NM_022336.4(EDAR):c.1148T>C (p.Leu383Pro)
NM_022336.4(EDAR):c.1174_1185del (p.Thr392_Met395del)
NM_022336.4(EDAR):c.1183A>G (p.Met395Val) rs537348349
NM_022336.4(EDAR):c.1199G>C (p.Arg400Pro)
NM_022336.4(EDAR):c.1246G>A (p.Val416Met)
NM_022336.4(EDAR):c.1264G>A (p.Asp422Asn) rs1388587376
NM_022336.4(EDAR):c.1264G>T (p.Asp422Tyr)
NM_022336.4(EDAR):c.1270G>A (p.Val424Met) rs1696609331
NM_022336.4(EDAR):c.1273G>A (p.Glu425Lys) rs2105371442
NM_022336.4(EDAR):c.1280T>G (p.Leu427Trp)
NM_022336.4(EDAR):c.1284T>G (p.Cys428Trp) rs886041005
NM_022336.4(EDAR):c.1288G>A (p.Asp430Asn) rs886054744
NM_022336.4(EDAR):c.141C>G (p.Cys47Trp) rs1697337524
NM_022336.4(EDAR):c.146C>G (p.Pro49Arg)
NM_022336.4(EDAR):c.155C>T (p.Pro52Leu)
NM_022336.4(EDAR):c.166C>T (p.Pro56Ser) rs1553448523
NM_022336.4(EDAR):c.202_203insGCTACGGCACCAAAGACGAAG (p.Glu67_Asp68insGlyTyrGlyThrLysAspGlu)
NM_022336.4(EDAR):c.259T>G (p.Cys87Gly)
NM_022336.4(EDAR):c.275A>G (p.Asp92Gly) rs752810615
NM_022336.4(EDAR):c.328G>A (p.Asp110Asn) rs1574385383
NM_022336.4(EDAR):c.392A>G (p.Tyr131Cys) rs1697188444
NM_022336.4(EDAR):c.397A>C (p.Met133Leu)
NM_022336.4(EDAR):c.442+5del
NM_022336.4(EDAR):c.575T>G (p.Met192Arg) rs1696920527
NM_022336.4(EDAR):c.731-20A>G
NM_022336.4(EDAR):c.803+4T>G rs777577152
NM_022336.4(EDAR):c.826A>G (p.Asn276Asp) rs2105394216
NM_022336.4(EDAR):c.849C>A (p.Ser283Arg) rs145796324
NM_022336.4(EDAR):c.857G>C (p.Ser286Thr)
NM_022336.4(EDAR):c.893C>G (p.Pro298Arg)
NM_022336.4(EDAR):c.911C>T (p.Ser304Leu)
NM_022336.4(EDAR):c.93C>G (p.Cys31Trp)
NM_022336.4(EDAR):c.94G>A (p.Gly32Ser) rs201793571
NM_022336.4(EDAR):c.961G>A (p.Gly321Arg)
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.*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.*971C>T rs886046193
NM_145861.4(EDARADD):c.101G>A (p.Ser34Asn)
NM_145861.4(EDARADD):c.154C>T (p.Pro52Ser)
NM_145861.4(EDARADD):c.220-15C>T rs886046185
NM_145861.4(EDARADD):c.220G>A (p.Gly74Arg)
NM_145861.4(EDARADD):c.22C>G (p.Gln8Glu)
NM_145861.4(EDARADD):c.302C>T (p.Thr101Ile) rs886046186
NM_145861.4(EDARADD):c.358_359delinsAT (p.Asp120Ile) rs2103042601
NM_145861.4(EDARADD):c.404C>T (p.Thr135Met)
NM_145861.4(EDARADD):c.440G>T (p.Gly147Val) rs1659704734
NM_145861.4(EDARADD):c.446C>T (p.Ser149Phe) rs2103042663
NM_145861.4(EDARADD):c.484A>G (p.Ser162Gly)
NM_145861.4(EDARADD):c.543G>T (p.Glu181Asp)
NM_145861.4(EDARADD):c.548_549del (p.Leu182_Cys183insTer)
NM_145861.4(EDARADD):c.571G>T (p.Val191Leu) rs375789023

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