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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:
VANGL2
& Disease:
NTD
, 4 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
9052
VANGL2
c.1057C>T
p.Arg353Cys (p.R353C)
NM_020335.3
M
SNV
VUS
1
+
1
9053
VANGL2
c.1310T>C
p.Phe437Ser (p.F437S)
NM_020335.3
M
SNV
VUS
1
+
1
2438509
VANGL2
c.986C>T
p.Ala329Val (p.A329V)
NM_020335.3
M
SNV
VUS
1
+
0
1684206
VANGL2
c.1137A>G
p.Lys379= (p.K379=)
NM_020335.3
M
SNV
B
1
+
0
4 Results, 20 per Page
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