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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:
CHRNB1
& Disease:
CMS2C
, 5 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
1342362
CHRNB1
c.1365+5G>C
--
NM_000747.3
M
SNV
VUS
3
+
2
256772
CHRNB1
c.1217+28G>A
--
NM_000747.3
M
SNV
B
3
+
1
679141
CHRNB1
c.462+74G>A
--
NM_000747.3
M
SNV
B
3
+
1
18374
CHRNB1
c.1347_1355del
p.Glu449_Glu451del
NM_000747.3
M
Del
P
1
+
1
2584996
CHRNB1
c.442C>T
p.Arg148Cys (p.R148C)
NM_000747.3
M
SNV
VUS
1
+
1
5 Results, 20 per Page
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