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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:
UQCC2
& Disease:
MC3DN7
, 7 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
133295
UQCC2
c.214-3C>G
--
NM_032340.4
M
SNV
P
1
+
1
1220358
UQCC2
c.112G>A
p.Ala38Thr (p.A38T)
NM_032340.4
M
SNV
VUS
1
+
0
381205
UQCC2
c.321G>A
p.Met107Ile (p.M107I)
NM_032340.4
M
SNV
LB
1
+
0
2499488
UQCC2
c.101G>A
p.Arg34Gln (p.R34Q)
NM_032340.4
M
SNV
P
1
+
0
516964
UQCC2
c.225C>A
p.Pro75= (p.P75=)
NM_032340.4
M
SNV
LB
1
+
0
511602
UQCC2
c.75G>C
p.Arg25= (p.R25=)
NM_032340.4
M
SNV
LB
1
+
0
1032949
UQCC2
c.37T>C
p.Cys13Arg (p.C13R)
NM_032340.4
M
SNV
VUS
1
+
0
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