RS398123241 HPRT1
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What This Variant Does
"CLNSIG=5
Associated Conditions
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Lesch-Nyhan syndrome
Thyroid cancer
nonmedullary
1
Nonpapillary renal cell carcinoma
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Lesch-Nyhan syndrome
Thyroid cancer
nonmedullary
1
Nonpapillary renal cell carcinoma
Other Variants in HPRT1