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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:
DARS2
& Disease:
Talipes Equinovarus
, 6 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
1062
DARS2
c.492+2T>C
--
NM_018122.5
M
SNV
P
6
+
15
DARS2
c.492+2T>C
--
NM_001365212.1
SNV
P
6
+
15
DARS2
c.492+2T>C
--
NM_001365213.2
SNV
P
6
+
15
1057
DARS2
c.228-21_228-20delinsC
--
NM_018122.5
M
Indel
P
6
+
3
DARS2
c.228-21_228-20delinsC
--
NM_001365212.1
Indel
P
6
+
3
DARS2
c.228-21_228-20delinsC
--
NM_001365213.2
Indel
P
6
+
3
6 Results, 20 per Page
1
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