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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:
GNAI3
& Disease:
ARCND1
, 5 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
31636
GNAI3
c.118G>C
p.Gly40Arg (p.G40R)
NM_006496.4
M
SNV
P
1
+
2
64691
GNAI3
c.141C>A
p.Ser47Arg (p.S47R)
NM_006496.4
M
SNV
P
1
+
1
989287
GNAI3
c.303+1G>A
--
NM_006496.4
M
SNV
VUS
1
+
1
548497
GNAI3
c.146T>C
p.Ile49Thr (p.I49T)
NM_006496.4
M
SNV
VUS
1
+
0
2432198
GNAI3
c.145A>G
p.Ile49Val (p.I49V)
NM_006496.4
M
SNV
VUS
1
+
0
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