ClinVar Miner

List of variants reported as benign for autosomal dominant hypohidrotic ectodermal dysplasia by Genome-Nilou Lab

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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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_145861.4(EDARADD):c.27G>A (p.Met9Ile) rs966365 0.75593
NM_022336.4(EDAR):c.1056C>T (p.Cys352=) rs12623957 0.72397
NM_022336.4(EDAR):c.1024+44C>T rs260639 0.71201
NM_145861.4(EDARADD):c.62-41A>G rs669710 0.53840
NM_145861.4(EDARADD):c.161-33G>C rs636048 0.44828
NM_022336.4(EDAR):c.1109T>C (p.Val370Ala) rs3827760 0.05968

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