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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:
HNF1B
& Disease:
HNFJ3
, 6 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
636234
HNF1B
c.458A>G
p.His153Arg (p.H153R)
NM_000458.4
M
SNV
LP
2
+
8
446150
HNF1B
c.230_233del
p.Asp77fs (p.D77fs)
NM_000458.4
M
Del
P
3
+
8
636234
HNF1B
c.458A>G
p.His153Arg (p.H153R)
NM_001165923.4
SNV
LP
2
+
8
HNF1B
c.458A>G
p.His153Arg (p.H153R)
NM_001304286.2
SNV
LP
2
+
8
446150
HNF1B
c.230_233del
p.Asp77fs (p.D77fs)
NM_001165923.4
Del
P
3
+
8
HNF1B
c.230_233del
p.Asp77fs (p.D77fs)
NM_001304286.2
Del
P
3
+
8
6 Results, 20 per Page
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