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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:
ABCC8
& Disease:
Diabetes Mellitus
, 10 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
157683
ABCC8
c.1562G>A
p.Arg521Gln (p.R521Q)
NM_000352.6
M
SNV
LP
4
+
9
ABCC8
c.1562G>A
p.Arg521Gln (p.R521Q)
NM_001287174.3
SNV
LP
4
+
9
ABCC8
c.1562G>A
p.Arg521Gln (p.R521Q)
NM_001351295.2
SNV
LP
4
+
9
ABCC8
c.1559G>A
p.Arg520Gln (p.R520Q)
NM_001351296.2
SNV
LP
4
+
9
ABCC8
c.1559G>A
p.Arg520Gln (p.R520Q)
NM_001351297.2
SNV
LP
4
+
9
1506182
ABCC8
c.4544C>T
p.Thr1515Met (p.T1515M)
NM_000352.6
M
SNV
LP
2
+
4
ABCC8
c.4547C>T
p.Thr1516Met (p.T1516M)
NM_001287174.3
SNV
LP
2
+
4
ABCC8
c.4610C>T
p.Thr1537Met (p.T1537M)
NM_001351295.2
SNV
LP
2
+
4
ABCC8
c.4544C>T
p.Thr1515Met (p.T1515M)
NM_001351296.2
SNV
LP
2
+
4
ABCC8
c.4541C>T
p.Thr1514Met (p.T1514M)
NM_001351297.2
SNV
LP
2
+
4
10 Results, 20 per Page
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