ClinVar Miner

List of variants in gene combination EDAR, RANBP2 reported as uncertain significance for autosomal dominant hypohidrotic ectodermal dysplasia

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_022336.4(EDAR):c.1000G>A (p.Ala334Thr) rs752662417 0.00036
NM_022336.4(EDAR):c.607G>A (p.Val203Ile) rs148212997 0.00024
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_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.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.1006G>A (p.Val336Met) rs1300767499 0.00001
NM_022336.4(EDAR):c.108C>G (p.Tyr36Ter) rs758536902 0.00001
NM_022336.4(EDAR):c.1175C>T (p.Thr392Ile) rs899642068 0.00001
NM_022336.4(EDAR):c.259T>C (p.Cys87Arg) rs121908451 0.00001
NM_022336.4(EDAR):c.569T>C (p.Ile190Thr) rs1696920814 0.00001
NM_022336.4(EDAR):c.71C>A (p.Ala24Asp) rs1306259287 0.00001
NM_022336.4(EDAR):c.1018G>A (p.Val340Met)
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.1133C>T (p.Ala378Val) rs2105371700
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.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.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.656-1G>A rs1558802058
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.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)

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