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Table 1 List of the variants identified on EDA, EDAR and EDARADD genes in the affected child investigated by NGS method

From: A novel frameshift mutation in the EDA gene in an Iranian patient affected by X-linked hypohidrotic ectodermal dysplasia

Gene name Variant name RS-ID Frequency in
dbSNP Hapmap 1000-genome BGI’s
EDA c.898_924+8del35ins4 (Hemizygous) Novel - - 0 0
EDARADD p.Met9Ile (Hom) rs966365 0.59 0.881 0.62 0.8889
EDAR p.Cys352Cys (Het) rs12623957 0.352 0.066 0.2619 0.0525
EDAR p.Ser250Ser (Het) rs260632 0.13 0.007 0.1218 0.089