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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:
ATRX
& Disease:
OSRC
, 2 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
11728
ATRX
c.7156C>T
p.Arg2386Ter (p.R2386X)
NM_000489.6
M
SNV
P
7
+
3
ATRX
c.7042C>T
p.Arg2348Ter (p.R2348X)
NM_138270.5
SNV
P
7
+
3
2 Results, 20 per Page
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