ClinVar Miner

List of variants in gene combination EDAR, RANBP2 reported as benign 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: 27
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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_022336.4(EDAR):c.1056C>T (p.Cys352=) rs12623957 0.72397
NM_022336.4(EDAR):c.1024+44C>T rs260639 0.71201
NM_022336.4(EDAR):c.357-4G>A rs748225 0.07354
NM_022336.4(EDAR):c.1109T>C (p.Val370Ala) rs3827760 0.05968
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_022336.4(EDAR):c.1143C>T (p.Phe381=) rs143639120 0.00126
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.1305G>A (p.Ala435=) rs564195922 0.00019
NM_022336.4(EDAR):c.207C>T (p.Tyr69=) rs147059377 0.00019
NM_022336.4(EDAR):c.1024+16del rs3833574
NM_022336.4(EDAR):c.1024+16dup
NM_022336.4(EDAR):c.1105G>C (p.Ala369Pro)
NM_022336.4(EDAR):c.357-18C>G
NM_022336.4(EDAR):c.822C>A (p.Ser274=) rs79648056

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