ClinVar Miner

List of variants studied for autosomal dominant hypohidrotic ectodermal dysplasia by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (7):

Autosomal dominant hypohidrotic ectodermal dysplasia
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; HAIR MORPHOLOGY 1
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant; Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

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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_145861.4(EDARADD):c.358G>C (p.Asp120His)
NM_145861.4(EDARADD):c.61+1G>C

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