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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:
SLC17A3
& Disease:
UAQTL4
, 4 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
36975
SLC17A3
c.911T>C
p.Phe304Ser (p.F304S)
NM_001098486.2
M
SNV
VUS
1
+
1
36976
SLC17A3
c.202A>C
p.Asn68His (p.N68H)
NM_001098486.2
M
SNV
VUS
1
+
1
36975
SLC17A3
c.677T>C
p.Phe226Ser (p.F226S)
NM_006632.4
SNV
VUS
1
+
1
36976
SLC17A3
c.202A>C
p.Asn68His (p.N68H)
NM_006632.4
SNV
VUS
1
+
1
4 Results, 20 per Page
1
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