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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:
GRHL2
& Disease:
Corneal Dystrophy
, 6 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
489403
GRHL2
c.20+544G>T
--
NM_024915.4
M
SNV
P
2
+
1
489404
GRHL2
c.20+257del
--
NM_024915.4
M
Del
LP
1
+
1
489405
GRHL2
c.20+133del
--
NM_024915.4
M
Del
P
2
+
1
489403
GRHL2
c.-29+484G>T
--
NM_001330593.2
SNV
P
2
+
1
489404
GRHL2
c.-29+197del
--
NM_001330593.2
Del
LP
1
+
1
489405
GRHL2
c.-29+73del
--
NM_001330593.2
Del
P
2
+
1
6 Results, 20 per Page
1
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