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

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		ClinVar version:

Total variants: 81

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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.224C>T (p.Pro75Leu)	rs748806220	0.00006
NM_145861.4(EDARADD):c.509G>A (p.Arg170Gln)	rs757261515	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_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.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_145861.4(EDARADD):c.199A>T (p.Asn67Tyr)	rs751704449	0.00001
NM_145861.4(EDARADD):c.568G>A (p.Asp190Asn)	rs748587639	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.1018G>A (p.Val340Met)
NM_022336.4(EDAR):c.1037C>A (p.Thr346Lys)
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.1198C>G (p.Arg400Gly)
NM_022336.4(EDAR):c.1199G>C (p.Arg400Pro)
NM_022336.4(EDAR):c.1202T>A (p.Ile401Asn)
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.158G>A (p.Gly53Glu)
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.656-11TC[2]
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)
NM_145861.4(EDARADD):c.101G>A (p.Ser34Asn)
NM_145861.4(EDARADD):c.154C>T (p.Pro52Ser)
NM_145861.4(EDARADD):c.220G>A (p.Gly74Arg)
NM_145861.4(EDARADD):c.22C>G (p.Gln8Glu)
NM_145861.4(EDARADD):c.358G>C (p.Asp120His)
NM_145861.4(EDARADD):c.358_359delinsAT (p.Asp120Ile)	rs2103042601
NM_145861.4(EDARADD):c.404C>T (p.Thr135Met)
NM_145861.4(EDARADD):c.446C>T (p.Ser149Phe)	rs2103042663
NM_145861.4(EDARADD):c.484A>G (p.Ser162Gly)
NM_145861.4(EDARADD):c.53A>G (p.His18Arg)
NM_145861.4(EDARADD):c.543G>T (p.Glu181Asp)
NM_145861.4(EDARADD):c.548_549del (p.Leu182_Cys183insTer)
NM_145861.4(EDARADD):c.80C>T (p.Pro27Leu)

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