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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:
LMNB2
& Disease:
MCPH27
, 5 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
14474
LMNB2
c.704G>A
p.Arg235Gln (p.R235Q)
NM_032737.4
M
SNV
LB
4
+
3
2582532
LMNB2
c.859G>A
p.Asp287Asn (p.D287N)
NM_032737.4
M
SNV
VUS
1
+
1
2578547
LMNB2
c.1163T>G
p.Ile388Ser (p.I388S)
NM_032737.4
M
SNV
VUS
2
+
1
997434
LMNB2
c.1192G>A
p.Glu398Lys (p.E398K)
NM_032737.4
M
SNV
P
1
+
1
997435
LMNB2
c.160A>C
p.Asn54His (p.N54H)
NM_032737.4
M
SNV
P
1
+
1
5 Results, 20 per Page
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