RS387906725 HPRT1
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What This Variant Does
"CLNSIG=5
Associated Conditions
Lesch-nyhan syndrome
neurologic variant
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Lesch-Nyhan syndrome
HPRT1-related disorder
Lesch-nyhan syndrome
neurologic variant
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Lesch-Nyhan syndrome
HPRT1-related disorder
Other Variants in HPRT1