ClinVar Miner

List of variants reported as not provided for autosomal dominant hypohidrotic ectodermal dysplasia by GeneReviews

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
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_145861.4(EDARADD):c.454G>A (p.Glu152Lys)	rs74315309	0.00001
NM_145861.4(EDARADD):c.365T>G (p.Leu122Arg)	rs121908116
NM_145861.4(EDARADD):c.402_407del (p.Thr135_Val136del)	rs397515575

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