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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:
KCNQ2
& Disease:
BFNE
, 5 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
21785
KCNQ2
c.346_348del
p.Lys116Del (p.K116del)
NM_172107.4
M
Del
VUS
4
+
3
KCNQ2
c.346_348del
p.Lys116Del (p.K116del)
NM_004518.6
Del
VUS
4
+
3
KCNQ2
c.346_348del
p.Lys116Del (p.K116del)
NM_172106.3
Del
VUS
4
+
3
KCNQ2
c.346_348del
p.Lys116Del (p.K116del)
NM_172108.5
Del
VUS
4
+
3
KCNQ2
c.346_348del
p.Lys116Del (p.K116del)
NM_172109.3
Del
VUS
4
+
3
5 Results, 20 per Page
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