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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:
RPGRIP1
& Disease:
Color Blindness
, 6 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
523527
RPGRIP1
c.2567_2568dup
p.Val857fs (p.V857fs)
NM_020366.4
M
Dup
P
3
+
1
RPGRIP1
c.1493_1494dup
p.Val499fs (p.V499fs)
NM_001377948.1
Dup
P
3
+
1
RPGRIP1
c.796+1305_796+1306dup
--
NM_001377949.1
Dup
P
3
+
1
RPGRIP1
c.689-1593_689-1592dup
--
NM_001377523.1
Dup
P
3
+
1
RPGRIP1
c.689-1593_689-1592dup
--
NM_001377950.1
Dup
P
3
+
1
RPGRIP1
c.191-1593_191-1592dup
--
NM_001377951.1
Dup
P
3
+
1
6 Results, 20 per Page
1
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