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Gene: NPHP3 & Disease: Juvenile Nephronophthisis, 820 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
220868	NPHP3	c.2694-2_2694-1del	--	NM_153240.5 M	Del	P	6 +	13
1454640	NPHP3	c.3775C>T	p.Arg1259Ter (p.R1259X)	NM_153240.5 M	SNV	P	5 +	7
96511	NPHP3	c.2369T>C	p.Leu790Pro (p.L790P)	NM_153240.5 M	SNV	P	3 +	6
430726	NPHP3	c.424C>T	p.Arg142Ter (p.R142X)	NM_153240.5 M	SNV	P	3 +	5
462722	NPHP3	c.1304_1306del	p.Glu435Del (p.E435del)	NM_153240.5 M	Del	P	6 +	5
2640	NPHP3	c.2104C>T	p.Arg702Ter (p.R702X)	NM_153240.5 M	SNV	P	6 +	5
944911	NPHP3	c.3812+1G>T	--	NM_153240.5 M	SNV	P	2 +	5
195423	NPHP3	c.434_437del	p.Glu145fs (p.E145fs)	NM_153240.5 M	MS	P	5 +	4
848816	NPHP3	c.958-2A>G	--	NM_153240.5 M	SNV	P	5 +	4
659899	NPHP3	c.1087_1090del	p.Val363fs (p.V363fs)	NM_153240.5 M	Del	P	3 +	4
659899	NPHP3	c.1084_1087del	--	NM_153240.5 M	Del	P	3 +	4
2634	NPHP3	c.1381G>T	p.Glu461Ter (p.E461X)	NM_153240.5 M	SNV	P	5 +	4
1029229	NPHP3	c.2570+1G>T	--	NM_153240.5 M	SNV	P	2 +	4
853024	NPHP3	c.3003del	p.Phe1001fs (p.F1001fs)	NM_153240.5 M	Del	P	2 +	4
1466369	NPHP3	c.393+1G>C	--	NM_153240.5 M	SNV	LP	2 +	3
598394	NPHP3	c.406del	p.Thr136fs (p.T136fs)	NM_153240.5 M	Del	P	2 +	3
167379	NPHP3	c.1189C>T	p.Arg397Cys (p.R397C)	NM_153240.5 M	SNV	LB	5 +	3
1067254	NPHP3	c.1628+2T>A	--	NM_153240.5 M	SNV	LP	2 +	3
2639	NPHP3	c.1985+5G>A	--	NM_153240.5 M	SNV	P	3 +	3
424601	NPHP3	c.2171G>A	p.Arg724His (p.R724H)	NM_153240.5 M	SNV	VUS	2 +	3

820 Results, 20 per Page

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