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Gene: HPSE2 & Disease: CAKUT, 8 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
89	HPSE2	c.457C>T	p.Arg153Ter (p.R153X)	NM_021828.5 M	SNV	P	2 +	5
	HPSE2	c.457C>T	p.Arg153Ter (p.R153X)	NM_001166244.1	SNV	P	2 +	5
	HPSE2	c.457C>T	p.Arg153Ter (p.R153X)	NM_001166246.1	SNV	P	2 +	5
	HPSE2	c.448+87957C>T	--	NM_001166245.1	SNV	P	2 +	5
1344620	HPSE2	c.1099-2A>G	--	NM_021828.5 M	SNV	P	1 +	1
	HPSE2	c.763-2A>G	--	NM_001166245.1	SNV	P	1 +	1
	HPSE2	c.925-2A>G	--	NM_001166244.1	SNV	P	1 +	1
	HPSE2	c.1099-2A>G	--	NM_001166246.1	SNV	P	1 +	1

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