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Mutation Direct

Effortless mutation search and display tool

Search criteria:
Gene: PGBD3 & Disease: COFS1, 20 results
ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
1703
--
SNV
P
7
+
7
550708
--
SNV
LP
3
+
4
300083
--
SNV
LB
3
+
3
129013
--
SNV
LB
7
+
3
879712
--
SNV
VUS
3
+
2
235642
--
SNV
LB
4
+
2
300084
--
SNV
LB
3
+
1
300085
--
SNV
LB
3
+
1
300086
--
SNV
LB
3
+
1
300087
--
SNV
LB
3
+
1
806468
SNV
VUS
7
+
1
878760
--
SNV
VUS
3
+
1
595151
--
SNV
VUS
3
+
1
932087
SNV
VUS
1
+
1
300082
--
SNV
VUS
4
+
0
300088
--
SNV
VUS
3
+
0
77973
--
SNV
LB
3
+
0
556775
--
Del
VUS
3
+
0
558026
--
Ins
VUS
3
+
0
556515
--
Del
VUS
3
+
0
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