ClinVar Miner

List of variants studied for autosomal dominant hypohidrotic ectodermal dysplasia

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 199
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HGVS dbSNP gnomAD frequency
NM_022336.4(EDAR):c.655+30T>C rs260630 0.90817
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.1056C>T (p.Cys352=) rs12623957 0.72397
NM_022336.4(EDAR):c.1024+44C>T rs260639 0.71201
NM_145861.4(EDARADD):c.62-41A>G rs669710 0.53840
NM_145861.4(EDARADD):c.161-33G>C rs636048 0.44828
NM_145861.4(EDARADD):c.369C>T (p.Asp123=) rs604070 0.18581
NM_022336.4(EDAR):c.357-4G>A rs748225 0.07354
NM_022336.4(EDAR):c.1109T>C (p.Val370Ala) rs3827760 0.05968
NM_145861.4(EDARADD):c.60G>A (p.Glu20=) rs60808129 0.02304
NM_145861.4(EDARADD):c.308C>T (p.Ser103Phe) rs114632254 0.02153
NM_145861.4(EDARADD):c.121-19C>T rs12064562 0.01338
NM_022336.4(EDAR):c.736G>A (p.Val246Met) rs79798733 0.00877
NM_022336.4(EDAR):c.57T>A (p.Ser19=) rs28407350 0.00782
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.813T>C (p.Asp271=) rs3749098 0.00390
NM_022336.4(EDAR):c.723G>A (p.Glu241=) rs3749108 0.00388
NM_022336.4(EDAR):c.319A>G (p.Met107Val) rs61761321 0.00302
NM_022336.4(EDAR):c.43G>A (p.Val15Ile) rs151195196 0.00254
NM_145861.4(EDARADD):c.393G>A (p.Pro131=) rs139996586 0.00254
NM_022336.4(EDAR):c.1143C>T (p.Phe381=) rs143639120 0.00126
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.227C>T (p.Ala76Val) rs143471570 0.00077
NM_022336.4(EDAR):c.1138A>C (p.Ser380Arg) rs146567337 0.00054
NM_022336.4(EDAR):c.243A>G (p.Lys81=) rs145518416 0.00043
NM_022336.4(EDAR):c.147G>A (p.Pro49=) rs149582563 0.00039
NM_022336.4(EDAR):c.960C>T (p.Ala320=) rs10432616 0.00039
NM_022336.4(EDAR):c.1000G>A (p.Ala334Thr) rs752662417 0.00036
NM_022336.4(EDAR):c.731-4G>T rs201539805 0.00035
NM_022336.4(EDAR):c.607G>A (p.Val203Ile) rs148212997 0.00024
NM_022336.4(EDAR):c.1305G>A (p.Ala435=) rs564195922 0.00019
NM_022336.4(EDAR):c.207C>T (p.Tyr69=) rs147059377 0.00019
NM_022336.4(EDAR):c.1119G>A (p.Thr373=) rs144939741 0.00016
NM_022336.4(EDAR):c.68C>T (p.Ser23Leu) rs760731007 0.00014
NM_022336.4(EDAR):c.122C>A (p.Thr41Lys) rs368553609 0.00011
NM_022336.4(EDAR):c.1038G>A (p.Thr346=) rs141067689 0.00008
NM_022336.4(EDAR):c.224C>T (p.Pro75Leu) rs748806220 0.00006
NM_145861.4(EDARADD):c.509G>A (p.Arg170Gln) rs757261515 0.00006
NM_022336.4(EDAR):c.463G>A (p.Ala155Thr) rs370972367 0.00004
NM_022336.4(EDAR):c.991G>A (p.Asp331Asn) rs374079078 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_022336.4(EDAR):c.1144G>A (p.Gly382Ser) rs747806672 0.00002
NM_022336.4(EDAR):c.1209G>A (p.Thr403=) rs200198949 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_022336.4(EDAR):c.903C>A (p.Cys301Ter) rs199544410 0.00002
NM_145861.4(EDARADD):c.392C>T (p.Pro131Leu) rs1005957166 0.00002
NM_022336.4(EDAR):c.1006G>A (p.Val336Met) rs1300767499 0.00001
NM_022336.4(EDAR):c.1059C>T (p.Leu353=) rs777416175 0.00001
NM_022336.4(EDAR):c.108C>G (p.Tyr36Ter) rs758536902 0.00001
NM_022336.4(EDAR):c.1132G>A (p.Ala378Thr) rs1310296844 0.00001
NM_022336.4(EDAR):c.1175C>T (p.Thr392Ile) rs899642068 0.00001
NM_022336.4(EDAR):c.175-2A>G rs757233170 0.00001
NM_022336.4(EDAR):c.259T>C (p.Cys87Arg) rs121908451 0.00001
NM_022336.4(EDAR):c.265C>T (p.Arg89Cys) rs780424781 0.00001
NM_022336.4(EDAR):c.266G>A (p.Arg89His) rs121908450 0.00001
NM_022336.4(EDAR):c.569T>C (p.Ile190Thr) rs1696920814 0.00001
NM_022336.4(EDAR):c.708C>T (p.Asp236=) rs751689993 0.00001
NM_022336.4(EDAR):c.71C>A (p.Ala24Asp) rs1306259287 0.00001
NM_022336.4(EDAR):c.931G>T (p.Glu311Ter) rs1432041144 0.00001
NM_022336.4(EDAR):c.973C>T (p.Arg325Trp) rs755654853 0.00001
NM_145861.4(EDARADD):c.199A>T (p.Asn67Tyr) rs751704449 0.00001
NM_145861.4(EDARADD):c.417G>A (p.Trp139Ter) rs954823206 0.00001
NM_145861.4(EDARADD):c.568G>A (p.Asp190Asn) rs748587639 0.00001
NC_000001.10:g.(?_236631511)_(236631596_?)dup
NC_000001.10:g.(?_236631511)_(236645949_?)dup
NC_000001.11:g.236468231_236468234del
NC_000002.11:g.(?_108604612)_(109579739_?)del
NC_000002.11:g.(?_109336043)_(109579739_?)dup
NC_000002.11:g.(?_109367964)_(109579739_?)dup
NM_022336.3(EDAR):c.(?_509)_(803_?)+34del
NM_022336.3(EDAR):c.(?_998)_(1347_?)del
NM_022336.4(EDAR):c.1017C>A (p.Val339=) rs201434694
NM_022336.4(EDAR):c.1017C>T (p.Val339=) rs201434694
NM_022336.4(EDAR):c.1018G>A (p.Val340Met)
NM_022336.4(EDAR):c.1024+16del rs3833574
NM_022336.4(EDAR):c.1024+16dup
NM_022336.4(EDAR):c.1024+1G>A rs1553444895
NM_022336.4(EDAR):c.1024+2T>C
NM_022336.4(EDAR):c.1025-14A>G
NM_022336.4(EDAR):c.102C>T (p.Asn34=)
NM_022336.4(EDAR):c.1057C>T (p.Leu353Phe)
NM_022336.4(EDAR):c.1061AGA[1] (p.Lys355del) rs1574362124
NM_022336.4(EDAR):c.1072C>T (p.Arg358Ter) rs121908452
NM_022336.4(EDAR):c.1073G>A (p.Arg358Gln) rs886039564
NM_022336.4(EDAR):c.1088del (p.Thr363fs) rs1574362082
NM_022336.4(EDAR):c.1089del (p.Tyr364fs) rs1558793736
NM_022336.4(EDAR):c.1094A>G (p.Asn365Ser) rs1696614928
NM_022336.4(EDAR):c.1097_1098del (p.Asn365_Ser366insTer) rs2105371772
NM_022336.4(EDAR):c.1105G>C (p.Ala369Pro)
NM_022336.4(EDAR):c.1121G>A (p.Trp374Ter) rs886039348
NM_022336.4(EDAR):c.1128C>T (p.His376=)
NM_022336.4(EDAR):c.1130T>C (p.Leu377Pro) rs1696613834
NM_022336.4(EDAR):c.1133C>T (p.Ala378Val) rs2105371700
NM_022336.4(EDAR):c.1135G>A (p.Glu379Lys)
NM_022336.4(EDAR):c.1142T>C (p.Phe381Ser) rs1574361959
NM_022336.4(EDAR):c.1148T>C (p.Leu383Pro)
NM_022336.4(EDAR):c.1151_1154dup (p.Asp386fs) rs2105371643
NM_022336.4(EDAR):c.1163T>C (p.Ile388Thr) rs917638291
NM_022336.4(EDAR):c.1169del (p.Gly390fs) rs1558793621
NM_022336.4(EDAR):c.1169dup (p.Met391fs) rs1558793621
NM_022336.4(EDAR):c.1174_1185del (p.Thr392_Met395del)
NM_022336.4(EDAR):c.1193_1194del (p.Leu397_Phe398insTer) rs1553443360
NM_022336.4(EDAR):c.1199G>C (p.Arg400Pro)
NM_022336.4(EDAR):c.1205G>A (p.Ser402Asn)
NM_022336.4(EDAR):c.1208C>G (p.Thr403Arg)
NM_022336.4(EDAR):c.1208C>T (p.Thr403Met) rs1696610832
NM_022336.4(EDAR):c.1213G>C (p.Gly405Arg) rs1696610650
NM_022336.4(EDAR):c.1214G>A (p.Gly405Asp) rs1696610594
NM_022336.4(EDAR):c.1214G>C (p.Gly405Ala) rs1696610594
NM_022336.4(EDAR):c.1218C>G (p.Tyr406Ter)
NM_022336.4(EDAR):c.1221del (p.Ser407fs)
NM_022336.4(EDAR):c.1246G>A (p.Val416Met)
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln) rs121908453
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>C (p.Leu427Ser)
NM_022336.4(EDAR):c.1280T>G (p.Leu427Trp)
NM_022336.4(EDAR):c.1282T>C (p.Cys428Arg)
NM_022336.4(EDAR):c.1284T>A (p.Cys428Ter) rs886041005
NM_022336.4(EDAR):c.1284T>G (p.Cys428Trp) rs886041005
NM_022336.4(EDAR):c.1292T>C (p.Ile431Thr)
NM_022336.4(EDAR):c.1293A>G (p.Ile431Met) rs1696608635
NM_022336.4(EDAR):c.1297G>T (p.Glu433Ter)
NM_022336.4(EDAR):c.141C>G (p.Cys47Trp) rs1697337524
NM_022336.4(EDAR):c.146C>G (p.Pro49Arg)
NM_022336.4(EDAR):c.146C>T (p.Pro49Leu) rs375891208
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.219C>G (p.Pro73=)
NM_022336.4(EDAR):c.259T>G (p.Cys87Gly)
NM_022336.4(EDAR):c.275A>G (p.Asp92Gly) rs752810615
NM_022336.4(EDAR):c.284del (p.Gly95fs) rs1060499610
NM_022336.4(EDAR):c.287T>C (p.Phe96Ser) rs1697319420
NM_022336.4(EDAR):c.292C>T (p.Arg98Trp) rs557166582
NM_022336.4(EDAR):c.293G>A (p.Arg98Gln) rs144473052
NM_022336.4(EDAR):c.328G>A (p.Asp110Asn) rs1574385383
NM_022336.4(EDAR):c.357-18C>G
NM_022336.4(EDAR):c.360C>T (p.Tyr120=) rs1574381304
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.641dup (p.Pro215fs)
NM_022336.4(EDAR):c.656-16C>A
NM_022336.4(EDAR):c.656-1G>A rs1558802058
NM_022336.4(EDAR):c.731-20A>G
NM_022336.4(EDAR):c.73C>T (p.Arg25Ter)
NM_022336.4(EDAR):c.78G>A (p.Ala26=)
NM_022336.4(EDAR):c.803+4T>G rs777577152
NM_022336.4(EDAR):c.804-17C>T
NM_022336.4(EDAR):c.822C>A (p.Ser274=) rs79648056
NM_022336.4(EDAR):c.826A>G (p.Asn276Asp) rs2105394216
NM_022336.4(EDAR):c.850G>A (p.Val284Ile)
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.913C>T (p.Leu305=)
NM_022336.4(EDAR):c.922C>T (p.Leu308=)
NM_022336.4(EDAR):c.931del (p.Glu311fs)
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_022336.4(EDAR):c.964-16C>T
NM_022336.4(EDAR):c.964-1G>A rs2105390253
NM_022336.4(EDAR):c.979A>T (p.Lys327Ter) rs1696805876
NM_022336.4(EDAR):c.985A>T (p.Ile329Phe) rs1553444917
NM_022336.4(EDAR):c.986T>G (p.Ile329Ser) rs1696805635
NM_145861.4(EDARADD):c.101G>A (p.Ser34Asn)
NM_145861.4(EDARADD):c.147G>A (p.Thr49=)
NM_145861.4(EDARADD):c.154C>T (p.Pro52Ser)
NM_145861.4(EDARADD):c.161-17_161-15del
NM_145861.4(EDARADD):c.161-6del rs555177993
NM_145861.4(EDARADD):c.161-6dup rs555177993
NM_145861.4(EDARADD):c.220G>A (p.Gly74Arg)
NM_145861.4(EDARADD):c.22C>G (p.Gln8Glu)
NM_145861.4(EDARADD):c.358_359delinsAT (p.Asp120Ile) rs2103042601
NM_145861.4(EDARADD):c.359A>C (p.Asp120Ala) rs2103042605
NM_145861.4(EDARADD):c.365T>G (p.Leu122Arg) rs121908116
NM_145861.4(EDARADD):c.367G>A (p.Asp123Asn) rs879255629
NM_145861.4(EDARADD):c.402_407del (p.Thr135_Val136del) rs397515575
NM_145861.4(EDARADD):c.404C>T (p.Thr135Met)
NM_145861.4(EDARADD):c.446C>T (p.Ser149Phe) rs2103042663
NM_145861.4(EDARADD):c.454G>A (p.Glu152Lys) rs74315309
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.570C>T (p.Asp190=)
NM_145861.4(EDARADD):c.62-18T>C
NM_145861.4(EDARADD):c.80C>T (p.Pro27Leu)

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