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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:
VRK1
& Disease:
DHMN
, 7 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
664847
VRK1
c.701A>G
p.Asn234Ser (p.N234S)
NM_003384.3
M
SNV
LP
3
+
2
1057157
VRK1
c.583T>G
p.Leu195Val (p.L195V)
NM_003384.3
M
SNV
LP
2
+
2
130730
VRK1
c.858G>T
p.Met286Ile (p.M286I)
NM_003384.3
M
SNV
LP
3
+
1
617789
VRK1
c.761G>T
p.Trp254Leu (p.W254L)
NM_003384.3
M
SNV
P
2
+
1
619020
VRK1
c.656G>T
p.Arg219Ile (p.R219I)
NM_003384.3
M
SNV
P
2
+
1
580037
VRK1
c.607C>T
p.Arg203Trp (p.R203W)
NM_003384.3
M
SNV
LP
2
+
1
1679203
VRK1
c.197C>G
p.Ala66Gly (p.A66G)
NM_003384.3
M
SNV
LP
1
+
0
7 Results, 20 per Page
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