Database of Pathogenic Variants

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Disease Detail

Disease Name

Hypouricemia renal 1
OMIM:220150
MedGen:C0473219

Associated Genes and Variants

SLC22A12

NM_144585.3:c.1145A>T
NM_144585.3:c.1253T>G
NM_144585.3:c.1639_1643delGTCCT
NM_144585.3:c.269G>A
NM_144585.3:c.506+1G>A
NM_144585.3:c.774G>A
NM_144585.3:c.889C>A
NM_144585.3:c.935_997delinsTGG
NM_144585.4:c.506+1G>A
NM_144585.4:c.774G>A

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