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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:
SLC12A3
& Disease:
Hypokalemia
, 6 results
Search
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
208612
SLC12A3
c.2221G>A
p.Gly741Arg (p.G741R)
NM_001126108.2
M
SNV
P
3
+
11
SLC12A3
c.2221G>A
p.Gly741Arg (p.G741R)
NM_000339.3
SNV
P
3
+
11
SLC12A3
c.2218G>A
p.Gly740Arg (p.G740R)
NM_001126107.2
SNV
P
3
+
11
523358
SLC12A3
c.457G>A
p.Val153Met (p.V153M)
NM_001126108.2
M
SNV
LP
2
+
2
SLC12A3
c.457G>A
p.Val153Met (p.V153M)
NM_000339.3
SNV
LP
2
+
2
SLC12A3
c.454G>A
p.Val152Met (p.V152M)
NM_001126107.2
SNV
LP
2
+
2
6 Results, 20 per Page
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