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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:
DVL3
& Disease:
DRS1
, 6 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
219218
DVL3
c.1585del
p.Ala529fs (p.A529fs)
NM_004423.4
M
Del
P
4
+
2
219219
DVL3
c.1715-2A>G
--
NM_004423.4
M
SNV
P
4
+
2
219220
DVL3
c.1715-1G>A
--
NM_004423.4
M
SNV
P
4
+
2
219221
DVL3
c.1716del
p.Ser573fs (p.S573fs)
NM_004423.4
M
Del
P
4
+
2
219222
DVL3
c.1749del
p.Ser583fs (p.S583fs)
NM_004423.4
M
Del
P
4
+
2
694689
DVL3
c.1715-2A>C
--
NM_004423.4
M
SNV
P
2
+
0
6 Results, 20 per Page
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