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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:
ZIC1
& Disease:
CRS6
, 3 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
372164
ZIC1
c.1198G>C
p.Gly400Arg (p.G400R)
NM_003412.4
M
SNV
P
1
+
1
981197
ZIC1
c.1153G>T
p.Glu385Ter (p.E385X)
NM_003412.4
M
SNV
LP
1
+
0
1333899
ZIC1
c.1097T>A
p.Met366Lys (p.M366K)
NM_003412.4
M
SNV
VUS
1
+
0
3 Results, 20 per Page
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