Database of Pathogenic Variants
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Disease Detail
Disease Name
Deafness, autosomal recessive, 4
OMIM:600791
MedGen:C1863752
Associated Genes and Variants
SLC26A4
NM_000441.1:c.1001+1G>A
NM_000441.1:c.1079C>T
NM_000441.1:c.1105A>G
NM_000441.1:c.1115C>T
NM_000441.1:c.1174A>T
NM_000441.1:c.1187G>A
NM_000441.1:c.1226G>A
NM_000441.1:c.1229C>T
NM_000441.1:c.1315G>A
NM_000441.1:c.1586T>G
NM_000441.1:c.1614+1G>A
NM_000441.1:c.1625C>G
NM_000441.1:c.1651dupT
NM_000441.1:c.1667A>G
NM_000441.1:c.1707+5G>A
NM_000441.1:c.1708-27_1708-11del17
NM_000441.1:c.1743G>C
NM_000441.1:c.1829C>A
NM_000441.1:c.1970G>A
NM_000441.1:c.1997C>T
NM_000441.1:c.2074T>C
NM_000441.1:c.2106_2110dupGCTGG
NM_000441.1:c.2162C>T
NM_000441.1:c.2167C>T
NM_000441.1:c.2168A>G
NM_000441.1:c.2228T>A
NM_000441.1:c.322delC
NM_000441.1:c.367C>T
NM_000441.1:c.416-1G>A
NM_000441.1:c.439A>G
NM_000441.1:c.600+1G>T
NM_000441.1:c.601-1G>A
NM_000441.1:c.82A>G
NM_000441.1:c.890C>A
NM_000441.1:c.916dupG
NM_000441.1:c.919-2A>G