Gene Mutation Browser

Gene	Gene Omim Number	Disease Omim Number	Chromosome Location	Gene Mutation	Allelic Variant	Omim Phenotype	Sample Count
HPRT1	308000	300322	Xq26-q27.2	ARG167MET		LESCH-NYHAN SYNDROME	1
HPRT1	308000	300322	Xq26-q27.2	ARG44LYS	0020	LESCH-NYHAN SYNDROME	1
HPRT1	308000	300322	Xq26-q27.2	ARG48HIS	0060	LESCH-NYHAN SYNDROME, NEUROLOGIC VARIANT	2
HPRT1	308000	300322	Xq26-q27.2	ASP194HIS		LESCH-NYHAN SYNDROME	1
HPRT1	308000	300322	Xq26-q27.2	ASP201ASN		LESCH-NYHAN SYNDROME	1
HPRT1	308000	300322	Xq26-q27.2	EX1DEL		LESCH-NYHAN SYNDROME	1
HPRT1	308000	300322	Xq26-q27.2	EX2-3DUP, IVS1DEL	0047	LESCH-NYHAN SYNDROME	3
HPRT1	308000	300322	Xq26-q27.2	EX8DEL	0005	HPRT CONNERSVILLE	1
HPRT1	308000	300322	Xq26-q27.2	EX9DEL	0043	LESCH-NYHAN SYNDROME	2
HPRT1	308000	300322	Xq26-q27.2	GLU47GLY		LESCH-NYHAN SYNDROME	1
HPRT1	308000	300322	Xq26-q27.2	GLY39GLU		LESCH-NYHAN SYNDROME	1
HPRT1	308000	300322	Xq26-q27.2	HIS203ASP	0019	LESCH-NYHAN SYNDROME	1
HPRT1	308000	300322	Xq26-q27.2	IVS7DS, G-A, +5	0031	LESCH-NYHAN SYNDROME	2
HPRT1	308000	300322	Xq26-q27.2	MET144LYS; InsA423_2_433		LESCH-NYHAN SYNDROME	1
HPRT1	308000	300322	Xq26-q27.2	VAL8GLY		LESCH-NYHAN SYNDROME	1