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Gene: NSRP1 & Disease: Spasticity, 8 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1047905	NSRP1	c.1359_1362delAAAG	--	NM_032141.4 M	Del	P	3 +	1
1047905	NSRP1	c.1359_1362del	p.Glu455fs (p.E455fs)	NM_032141.4 M	Del	P	3 +	1
1047906	NSRP1	c.1272dupG	--	NM_032141.4 M	Dup	P	3 +	1
1047906	NSRP1	c.1272dup	p.Lys425fs (p.K425fs)	NM_032141.4 M	Dup	P	3 +	1
1047907	NSRP1	c.52C>T	p.Gln18Ter (p.Q18X)	NM_032141.4 M	SNV	P	3 +	1
1047905	NSRP1	c.1197_1200del	p.Glu401fs (p.E401fs)	NM_001261467.2	Del	P	3 +	1
1047906	NSRP1	c.1110dup	p.Lys371fs (p.K371fs)	NM_001261467.2	Dup	P	3 +	1
1047907	NSRP1	c.-49+1248C>T	--	NM_001261467.2	SNV	P	3 +	1

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