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Gene: NPHP1 & Disease: NPH, 2898 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
3510	NPHP1	c.859G>A	p.Gly287Arg (p.G287R)	NM_001128178.3 M	SNV	P	3 +	13
	NPHP1	c.1027G>A	p.Gly343Arg (p.G343R)	NM_000272.5	SNV	P	3 +	13
	NPHP1	c.670G>A	p.Gly224Arg (p.G224R)	NM_001128179.3	SNV	P	3 +	13
	NPHP1	c.856G>A	p.Gly286Arg (p.G286R)	NM_001374256.1	SNV	P	3 +	13
	NPHP1	c.859G>A	p.Gly287Arg (p.G287R)	NM_001374257.1	SNV	P	3 +	13
	NPHP1	c.1024G>A	p.Gly342Arg (p.G342R)	NM_207181.4	SNV	P	3 +	13
1030710	NPHP1	c.1588C>T	p.Arg530Ter (p.R530X)	NM_001128178.3 M	SNV	P	6 +	7
216416	NPHP1	c.1861G>C	p.Glu621Gln (p.E621Q)	NM_001128178.3 M	SNV	LB	6 +	7
1030710	NPHP1	c.1756C>T	p.Arg586Ter (p.R586X)	NM_000272.5	SNV	P	6 +	7
	NPHP1	c.1399C>T	p.Arg467Ter (p.R467X)	NM_001128179.3	SNV	P	6 +	7
	NPHP1	c.1585C>T	p.Arg529Ter (p.R529X)	NM_001374256.1	SNV	P	6 +	7
	NPHP1	c.1588C>T	p.Arg530Ter (p.R530X)	NM_001374257.1	SNV	P	6 +	7
	NPHP1	c.1753C>T	p.Arg585Ter (p.R585X)	NM_207181.4	SNV	P	6 +	7
216416	NPHP1	c.2029G>C	p.Glu677Gln (p.E677Q)	NM_000272.5	SNV	LB	6 +	7
	NPHP1	c.1672G>C	p.Glu558Gln (p.E558Q)	NM_001128179.3	SNV	LB	6 +	7
	NPHP1	c.1858G>C	p.Glu620Gln (p.E620Q)	NM_001374256.1	SNV	LB	6 +	7
	NPHP1	c.*103G>C	--	NM_001374257.1	SNV	LB	6 +	7
	NPHP1	c.2026G>C	p.Glu676Gln (p.E676Q)	NM_207181.4	SNV	LB	6 +	7
283524	NPHP1	c.555dup	p.Pro186fs (p.P186fs)	NM_001128178.3 M	Dup	P	3 +	5
283524	NPHP1	c.555dup	p.Pro186fs (p.P186fs)	NM_000272.5	Dup	P	3 +	5

2898 Results, 20 per Page

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