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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:
GJA3
& Disease:
CTRCT1
, 8 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
311305
GJA3
c.*1565A>G
--
NM_021954.4
M
SNV
VUS
1
+
0
311321
GJA3
c.*553C>T
--
NM_021954.4
M
SNV
VUS
1
+
0
311324
GJA3
c.*420_*434delinsATAGA
--
NM_021954.4
M
Indel
VUS
1
+
0
311342
GJA3
c.780G>A
p.Arg260= (p.R260=)
NM_021954.4
M
SNV
VUS
1
+
0
311329
GJA3
c.*186TG[1]
--
NM_021954.4
M
MS
B
1
+
0
369055
GJA3
c.-179C>T
--
NM_021954.4
M
SNV
LB
1
+
0
311283
GJA3
c.*3393del
--
NM_021954.4
M
Del
VUS
1
+
0
311285
GJA3
c.*3373del
--
NM_021954.4
M
Del
B
1
+
0
8 Results, 20 per Page
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