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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:
SCN10A
& Disease:
Sodium Channelopathy-Related Small Fiber Neuropathy
, 3 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
418471
SCN10A
c.4849G>T
p.Val1617Phe (p.V1617F)
NM_006514.4
M
SNV
LB
4
+
0
SCN10A
c.4846G>T
p.Val1616Phe (p.V1616F)
NM_001293306.2
SNV
LB
4
+
0
SCN10A
c.4555G>T
p.Val1519Phe (p.V1519F)
NM_001293307.2
SNV
LB
4
+
0
3 Results, 20 per Page
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