Database of Pathogenic Variants

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Disease Detail

Disease Name

Deafness, X-linked, 2
OMIM:304400
Orphanet:383
MedGen:C2677850

Associated Genes and Variants

POU3F4

NM_000307.4:c.249delC
NM_000307.4:c.346delG
NM_000307.4:c.491delC
NM_000307.4:c.769G>T
NM_000307.4:c.992A>C

This database is funded by the Japan Agency for Medical Research and Development (AMED).