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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:
CPOX
& Disease:
HARPO
, 6 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
453
CPOX
c.1210A>G
p.Lys404Glu (p.K404E)
NM_000097.7
M
SNV
P
2
+
7
457
CPOX
c.1277+3A>G
--
NM_000097.7
M
SNV
P
1
+
3
126445
CPOX
c.980A>G
p.His327Arg (p.H327R)
NM_000097.7
M
SNV
P
1
+
1
1064042
CPOX
c.47T>G
p.Val16Gly (p.V16G)
NM_000097.7
M
SNV
VUS
2
+
0
1049038
CPOX
c.178C>G
p.Arg60Gly (p.R60G)
NM_000097.7
M
SNV
VUS
2
+
0
1679116
CPOX
c.700+2T>C
--
NM_000097.7
M
SNV
LP
2
+
0
6 Results, 20 per Page
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