Database of Pathogenic Variants

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Disease Detail

Disease Name

Deafness, autosomal recessive, 8
OMIM:601072
MedGen:C1832827

Associated Genes and Variants

TMPRSS3

NM_024022:c.280G>A
NM_024022:c.316C>T
NM_032404:c.226C>T
NM_032404:c.390C>G
NM_032404:c.647G>T
NM_032404:c.778G>A

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