ClinVar Miner

List of variants reported as pathogenic for autosomal dominant hypohidrotic ectodermal dysplasia

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_022336.4(EDAR):c.1144G>A (p.Gly382Ser) rs747806672 0.00002
NM_022336.4(EDAR):c.903C>A (p.Cys301Ter) rs199544410 0.00002
NM_022336.4(EDAR):c.1132G>A (p.Ala378Thr) rs1310296844 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.931G>T (p.Glu311Ter) rs1432041144 0.00001
NM_145861.4(EDARADD):c.417G>A (p.Trp139Ter) rs954823206 0.00001
NC_000001.11:g.236468231_236468234del
NC_000002.11:g.(?_108604612)_(109579739_?)del
NM_022336.3(EDAR):c.(?_509)_(803_?)+34del
NM_022336.3(EDAR):c.(?_998)_(1347_?)del
NM_022336.4(EDAR):c.1024+1G>A rs1553444895
NM_022336.4(EDAR):c.1024+2T>C
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.1097_1098del (p.Asn365_Ser366insTer) rs2105371772
NM_022336.4(EDAR):c.1121G>A (p.Trp374Ter) rs886039348
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.1193_1194del (p.Leu397_Phe398insTer) rs1553443360
NM_022336.4(EDAR):c.1208C>T (p.Thr403Met) rs1696610832
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.1259G>A (p.Arg420Gln) rs121908453
NM_022336.4(EDAR):c.1280T>C (p.Leu427Ser)
NM_022336.4(EDAR):c.1282T>C (p.Cys428Arg)
NM_022336.4(EDAR):c.1292T>C (p.Ile431Thr)
NM_022336.4(EDAR):c.1297G>T (p.Glu433Ter)
NM_022336.4(EDAR):c.284del (p.Gly95fs) rs1060499610
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.641dup (p.Pro215fs)
NM_022336.4(EDAR):c.73C>T (p.Arg25Ter)
NM_022336.4(EDAR):c.931del (p.Glu311fs)
NM_022336.4(EDAR):c.964-1G>A rs2105390253
NM_022336.4(EDAR):c.979A>T (p.Lys327Ter) rs1696805876
NM_145861.4(EDARADD):c.365T>G (p.Leu122Arg) rs121908116

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