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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:
ARF3
& Disease:
Scoliosis
, 3 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
1697208
ARF3
c.34C>G
p.Leu12Val (p.L12V)
NM_001659.3
M
SNV
LP
3
+
1
1697211
ARF3
c.200A>T
p.Asp67Val (p.D67V)
NM_001659.3
M
SNV
P
3
+
1
1697213
ARF3
c.379A>G
p.Lys127Glu (p.K127E)
NM_001659.3
M
SNV
P
3
+
1
3 Results, 20 per Page
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