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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:
SMARCB1
& Disease:
Central Nervous System Cancer
, 4 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
493002
SMARCB1
c.351dup
p.Thr118fs (p.T118fs)
NM_003073.5
M
Dup
P
1
+
1
SMARCB1
c.324dup
p.Thr109fs (p.T109fs)
NM_001007468.3
Dup
P
1
+
1
SMARCB1
c.324dup
p.Thr109fs (p.T109fs)
NM_001317946.2
Dup
P
1
+
1
SMARCB1
c.351dup
p.Thr118fs (p.T118fs)
NM_001362877.2
Dup
P
1
+
1
4 Results, 20 per Page
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