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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
Amyotrophic Lateral Sclerosis 1
USH2A c.8559-2A>G
Cystic Fibrosis
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Mutation Direct
Effortless mutation search and display tool
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Search criteria:
Gene:
SCN9A
& Disease:
BRE
, 5 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
195592
SCN9A
c.3832C>G
p.Leu1278Val (p.L1278V)
NM_001365536.1
M
SNV
P
6
+
5
433099
SCN9A
c.1846G>A
p.Gly616Arg (p.G616R)
NM_001365536.1
M
SNV
P
7
+
2
433098
SCN9A
c.1979C>T
p.Thr660Met (p.T660M)
NM_001365536.1
M
SNV
P
3
+
1
130260
SCN9A
c.3002A>G
p.Tyr1001Cys (p.Y1001C)
NM_001365536.1
M
SNV
P
6
+
1
194737
SCN9A
c.3349G>T
p.Val1117Leu (p.V1117L)
NM_001365536.1
M
SNV
P
3
+
1
5 Results, 20 per Page
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