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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:
SCLT1
& Disease:
Astigmatism
, 3 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
1804041
SCLT1
c.2060dup
p.Asn687fs (p.N687fs)
NM_144643.4
M
Dup
LP
4
+
0
1804042
SCLT1
c.1043del
p.Ser348fs (p.S348fs)
NM_144643.4
M
Del
P
4
+
0
SCLT1
c.1043delG
p.Ser348Ilefs (p.S348Ilefs)
NM_001410807.1
Del
P
4
+
0
3 Results, 20 per Page
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