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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:
FGFR3
& Disease:
46,xy Disorder of Sex Development
, 5 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
2429355
FGFR3
c.1633_1634del
p.Cys545fs (p.C545fs)
NM_000142.5
M
Del
LP
1
+
0
FGFR3
c.1639_1640del
p.Cys547fs (p.C547fs)
NM_001163213.2
Del
LP
1
+
0
FGFR3
c.1636_1637del
p.Cys546fs (p.C546fs)
NM_001354809.2
Del
LP
1
+
0
FGFR3
c.1636_1637del
p.Cys546fs (p.C546fs)
NM_001354810.2
Del
LP
1
+
0
FGFR3
c.1297_1298del
p.Cys433fs (p.C433fs)
NM_022965.4
Del
LP
1
+
0
5 Results, 20 per Page
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