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Gene: NR5A1 & Disease: SPGF1, 77 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1412226	NR5A1	c.895C>T	p.Gln299Ter (p.Q299X)	NM_004959.5 M	SNV	P	2 +	5
1075935	NR5A1	c.572del	p.Arg191fs (p.R191fs)	NM_004959.5 M	Del	P	2 +	5
1454827	NR5A1	c.984del	p.Gln329fs (p.Q329fs)	NM_004959.5 M	Del	P	2 +	5
1075535	NR5A1	c.75C>G	p.Tyr25Ter (p.Y25X)	NM_004959.5 M	SNV	P	2 +	5
1068954	NR5A1	c.232_244del	p.Met78fs (p.M78fs)	NM_004959.5 M	Del	P	2 +	5
1354651	NR5A1	c.231del	p.Met78fs (p.M78fs)	NM_004959.5 M	Del	P	2 +	5
449434	NR5A1	c.938G>A	p.Arg313His (p.R313H)	NM_004959.5 M	SNV	P	2 +	5
958902	NR5A1	c.334C>T	p.Gln112Ter (p.Q112X)	NM_004959.5 M	SNV	P	2 +	5
1368125	NR5A1	c.1139-1G>T	--	NM_004959.5 M	SNV	VUS	2 +	4
265792	NR5A1	c.274C>T	p.Arg92Trp (p.R92W)	NM_004959.5 M	SNV	P	3 +	4
372437	NR5A1	c.937C>T	p.Arg313Cys (p.R313C)	NM_004959.5 M	SNV	P	2 +	4
2118974	NR5A1	c.871-4_871-1del	--	NM_004959.5 M	Del	LP	2 +	4
2019693	NR5A1	c.591C>G	p.Tyr197Ter (p.Y197X)	NM_004959.5 M	SNV	P	2 +	4
259591	NR5A1	c.437G>C	p.Gly146Ala (p.G146A)	NM_004959.5 M	SNV	B	2 +	3
958009	NR5A1	c.982G>A	p.Gly328Arg (p.G328R)	NM_004959.5 M	SNV	LP	2 +	3
1244229	NR5A1	c.712G>A	p.Asp238Asn (p.D238N)	NM_004959.5 M	SNV	LP	3 +	3
981141	NR5A1	c.1063G>A	p.Val355Met (p.V355M)	NM_004959.5 M	SNV	LP	3 +	3
1442980	NR5A1	c.86C>T	p.Thr29Met (p.T29M)	NM_004959.5 M	SNV	P	2 +	3
817998	NR5A1	c.398del	p.Pro133fs (p.P133fs)	NM_004959.5 M	Del	P	2 +	3
2098559	NR5A1	c.244G>A	p.Ala82Thr (p.A82T)	NM_004959.5 M	SNV	VUS	2 +	3

77 Results, 20 per Page

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