ClinVar Miner

List of variants in gene combination EDAR, RANBP2 reported as likely 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: 24
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HGVS dbSNP gnomAD frequency
NM_022336.4(EDAR):c.870C>T (p.Pro290=) rs3749099 0.00493
NM_022336.4(EDAR):c.723G>A (p.Glu241=) rs3749108 0.00388
NM_022336.4(EDAR):c.227C>T (p.Ala76Val) rs143471570 0.00077
NM_022336.4(EDAR):c.731-4G>T rs201539805 0.00035
NM_022336.4(EDAR):c.1119G>A (p.Thr373=) rs144939741 0.00016
NM_022336.4(EDAR):c.463G>A (p.Ala155Thr) rs370972367 0.00004
NM_022336.4(EDAR):c.1209G>A (p.Thr403=) rs200198949 0.00002
NM_022336.4(EDAR):c.1059C>T (p.Leu353=) rs777416175 0.00001
NM_022336.4(EDAR):c.708C>T (p.Asp236=) rs751689993 0.00001
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.102C>T (p.Asn34=)
NM_022336.4(EDAR):c.1128C>T (p.His376=)
NM_022336.4(EDAR):c.146C>T (p.Pro49Leu) rs375891208
NM_022336.4(EDAR):c.219C>G (p.Pro73=)
NM_022336.4(EDAR):c.360C>T (p.Tyr120=) rs1574381304
NM_022336.4(EDAR):c.78G>A (p.Ala26=)
NM_022336.4(EDAR):c.850G>A (p.Val284Ile)
NM_022336.4(EDAR):c.913C>T (p.Leu305=)
NM_022336.4(EDAR):c.922C>T (p.Leu308=)

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