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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:
CCDC170
& Disease:
ESTRR
, 4 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
155872
CCDC170
c.1710+1144T>G
--
NM_025059.4
M
SNV
VUS
1
+
0
155874
CCDC170
c.*68A>C
--
NM_025059.4
M
SNV
VUS
1
+
0
155875
CCDC170
c.*978A>G
--
NM_025059.4
M
SNV
VUS
1
+
0
155873
CCDC170
c.1810G>A
p.Val604Ile (p.V604I)
NM_025059.4
M
SNV
LP
1
+
0
4 Results, 20 per Page
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