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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:
ADD3
& Disease:
Cerebral Palsy
, 7 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
242273
ADD3
c.1100G>A
p.Gly367Asp (p.G367D)
NM_016824.5
M
SNV
P
2
+
3
ADD3
c.1100G>A
p.Gly367Asp (p.G367D)
NM_001121.4
SNV
P
2
+
3
ADD3
c.1100G>A
p.Gly367Asp (p.G367D)
NM_001320591.2
SNV
P
2
+
3
ADD3
c.1100G>A
p.Gly367Asp (p.G367D)
NM_001320592.2
SNV
P
2
+
3
ADD3
c.1100G>A
p.Gly367Asp (p.G367D)
NM_001320593.2
SNV
P
2
+
3
ADD3
c.866G>A
p.Gly289Asp (p.G289D)
NM_001320594.2
SNV
P
2
+
3
ADD3
c.1100G>A
p.Gly367Asp (p.G367D)
NM_019903.5
SNV
P
2
+
3
7 Results, 20 per Page
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