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Gene: NPHS1 & Disease: FGS, 43 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
198518	NPHS1	c.791C>G	p.Pro264Arg (p.P264R)	NM_004646.4 M	SNV	LB	3 +	19
282372	NPHS1	c.563A>T	p.Asn188Ile (p.N188I)	NM_004646.4 M	SNV	LB	3 +	15
188761	NPHS1	c.2928G>T	p.Arg976Ser (p.R976S)	NM_004646.4 M	SNV	P	3 +	9
56421	NPHS1	c.1099C>T	p.Arg367Cys (p.R367C)	NM_004646.4 M	SNV	P	2 +	9
1339205	NPHS1	c.2600G>A	p.Gly867Asp (p.G867D)	NM_004646.4 M	SNV	P	2 +	6
180461	NPHS1	c.1339G>A	p.Glu447Lys (p.E447K)	NM_004646.4 M	SNV	LB	3 +	5
259483	NPHS1	c.128T>C	p.Val43Ala (p.V43A)	NM_004646.4 M	SNV	LB	3 +	3
259493	NPHS1	c.2971G>C	p.Val991Leu (p.V991L)	NM_004646.4 M	SNV	LB	3 +	3
259496	NPHS1	c.3230A>G	p.Asn1077Ser (p.N1077S)	NM_004646.4 M	SNV	B	3 +	3
259501	NPHS1	c.3595-9G>T	--	NM_004646.4 M	SNV	LB	3 +	3
180464	NPHS1	c.1802G>C	p.Gly601Ala (p.G601A)	NM_004646.4 M	SNV	LB	3 +	2
1712383	NPHS1	c.2512C>T	p.Pro838Ser (p.P838S)	NM_004646.4 M	SNV	VUS	1 +	2
1712391	NPHS1	c.2543A>C	p.Lys848Thr (p.K848T)	NM_004646.4 M	SNV	VUS	1 +	2
1712392	NPHS1	c.2517G>A	p.Gln839= (p.Q839=)	NM_004646.4 M	SNV	LB	1 +	2
1524828	NPHS1	c.2591G>A	p.Arg864His (p.R864H)	NM_004646.4 M	SNV	VUS	2 +	2
328872	NPHS1	c.1110T>C	p.Val370= (p.V370=)	NM_004646.4 M	SNV	LB	3 +	2
328883	NPHS1	c.115G>A	p.Glu39Lys (p.E39K)	NM_004646.4 M	SNV	LB	3 +	2
328882	NPHS1	c.151C>T	p.Leu51= (p.L51=)	NM_004646.4 M	SNV	B	3 +	2
1657291	NPHS1	c.1734G>A	p.Leu578= (p.L578=)	NM_004646.4 M	SNV	LB	1 +	2
716477	NPHS1	c.1758-8T>G	--	NM_004646.4 M	SNV	LB	3 +	2

43 Results, 20 per Page

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