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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:
IGFBP7
& Disease:
RAMSVPS
, 4 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
1252043
IGFBP7
c.829G>A
p.Gly277Ser (p.G277S)
NM_001553.3
M
SNV
P
1
+
0
1299709
IGFBP7
c.585+4T>A
--
NM_001553.3
M
SNV
B
1
+
0
1252043
IGFBP7
c.829G>A
p.Gly277Ser (p.G277S)
NM_001253835.2
SNV
P
1
+
0
1299709
IGFBP7
c.585+4T>A
--
NM_001253835.2
SNV
B
1
+
0
4 Results, 20 per Page
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