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Mutation Direct

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Gene: SCN9A & Disease: PEXPD, 305 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
157597	SCN9A	c.2248A>G	p.Ile750Val (p.I750V)	NM_001365536.1 M	SNV	P	5 +	12
198153	SCN9A	c.684C>G	p.Ile228Met (p.I228M)	NM_001365536.1 M	SNV	B	6 +	11
157596	SCN9A	c.554G>A	p.Arg185His (p.R185H)	NM_001365536.1 M	SNV	P	5 +	10
21344	SCN9A	c.1828C>A	p.Pro610Thr (p.P610T)	NM_001365536.1 M	SNV	LB	5 +	9
6367	SCN9A	c.1997A>G	p.Lys666Arg (p.K666R)	NM_001365536.1 M	SNV	LB	6 +	8
234412	SCN9A	c.4645T>C	p.Trp1549Arg (p.W1549R)	NM_001365536.1 M	SNV	LB	5 +	8
6366	SCN9A	c.1921A>T	p.Asn641Tyr (p.N641Y)	NM_001365536.1 M	SNV	B	5 +	6
30357	SCN9A	c.2192T>A	p.Ile731Lys (p.I731K)	NM_001365536.1 M	SNV	P	5 +	6
421969	SCN9A	c.2719C>T	p.Arg907Trp (p.R907W)	NM_001365536.1 M	SNV	P	6 +	6
130265	SCN9A	c.3767A>G	p.Asn1256Ser (p.N1256S)	NM_001365536.1 M	SNV	LB	6 +	5
195592	SCN9A	c.3832C>G	p.Leu1278Val (p.L1278V)	NM_001365536.1 M	SNV	P	6 +	5
446178	SCN9A	c.4415T>A	p.Ile1472Asn (p.I1472N)	NM_001365536.1 M	SNV	P	3 +	5
6360	SCN9A	c.4415T>C	p.Ile1472Thr (p.I1472T)	NM_001365536.1 M	SNV	P	3 +	4
130254	SCN9A	c.1119T>C	p.Ala373= (p.A373=)	NM_001365536.1 M	SNV	LB	5 +	3
94089	SCN9A	c.2827A>C	p.Met943Leu (p.M943L)	NM_001365536.1 M	SNV	LB	6 +	3
6359	SCN9A	c.3928G>T	p.Val1310Phe (p.V1310F)	NM_001365536.1 M	SNV	P	3 +	3
646093	SCN9A	c.5945A>T	p.Asp1982Val (p.D1982V)	NM_001365536.1 M	SNV	LB	5 +	3
415032	SCN9A	c.1277T>A	p.Met426Lys (p.M426K)	NM_001365536.1 M	SNV	LB	6 +	2
130255	SCN9A	c.1155G>T	p.Val385= (p.V385=)	NM_001365536.1 M	SNV	LB	5 +	2
6368	SCN9A	c.184A>G	p.Ile62Val (p.I62V)	NM_001365536.1 M	SNV	VUS	6 +	2

305 Results, 20 per Page

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