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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:
LBR
& Disease:
ATD
, 4 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
424332
LBR
c.1535G>A
p.Arg512Gln (p.R512Q)
NM_002296.4
M
SNV
P
3
+
2
LBR
c.1535G>A
p.Arg512Gln (p.R512Q)
NM_194442.3
SNV
P
3
+
2
446676
LBR
c.1174G>A
p.Gly392Arg (p.G392R)
NM_002296.4
M
SNV
P
2
+
1
LBR
c.1174G>A
p.Gly392Arg (p.G392R)
NM_194442.3
SNV
P
2
+
1
4 Results, 20 per Page
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