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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:
LMNA
& Disease:
LVHT
, 14 results
Search
Reset
ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
48045
LMNA
c.1567G>A
p.Gly523Arg (p.G523R)
NM_170707.4
M
SNV
LP
6
+
22
LMNA
c.1567G>A
p.Gly523Arg (p.G523R)
NM_005572.4
MP
SNV
LP
6
+
22
LMNA
c.1231G>A
p.Gly411Arg (p.G411R)
NM_001257374.3
SNV
LP
6
+
22
LMNA
c.1324G>A
p.Gly442Arg (p.G442R)
NM_001282624.2
SNV
LP
6
+
22
LMNA
c.1567G>A
p.Gly523Arg (p.G523R)
NM_001282625.2
SNV
LP
6
+
22
LMNA
c.1567G>A
p.Gly523Arg (p.G523R)
NM_001282626.2
SNV
LP
6
+
22
LMNA
c.1567G>A
p.Gly523Arg (p.G523R)
NM_170708.4
SNV
LP
6
+
22
36473
LMNA
c.1003C>T
p.Arg335Trp (p.R335W)
NM_170707.4
M
SNV
P
17
+
20
LMNA
c.1003C>T
p.Arg335Trp (p.R335W)
NM_005572.4
MP
SNV
P
17
+
20
LMNA
c.667C>T
p.Arg223Trp (p.R223W)
NM_001257374.3
SNV
P
17
+
20
LMNA
c.760C>T
p.Arg254Trp (p.R254W)
NM_001282624.2
SNV
P
17
+
20
LMNA
c.1003C>T
p.Arg335Trp (p.R335W)
NM_001282625.2
SNV
P
17
+
20
LMNA
c.1003C>T
p.Arg335Trp (p.R335W)
NM_001282626.2
SNV
P
17
+
20
LMNA
c.1003C>T
p.Arg335Trp (p.R335W)
NM_170708.4
SNV
P
17
+
20
14 Results, 20 per Page
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