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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:
AMBN
& Disease:
AI1F
, 7 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
183689
AMBN
c.294+140_531+479del
--
NM_016519.6
M
Del
P
1
+
1
372171
AMBN
c.532-1G>C
--
NM_016519.6
M
SNV
P
1
+
1
780465
AMBN
c.882C>A
p.His294Gln (p.H294Q)
NM_016519.6
M
SNV
LB
1
+
0
2445235
AMBN
c.15+1G>A
--
NM_016519.6
M
SNV
VUS
1
+
0
2444856
AMBN
c.571-1G>C
--
NM_016519.6
M
SNV
LP
1
+
0
1702585
AMBN
c.209C>G
p.Ser70Ter (p.S70X)
NM_016519.6
M
SNV
P
1
+
0
2445418
AMBN
c.577G>T
p.Gly193Ter (p.G193X)
NM_016519.6
M
SNV
VUS
1
+
0
7 Results, 20 per Page
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