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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:
PEX3
& Disease:
PBD1A
, 7 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
631556
PEX3
c.942-8T>G
--
NM_003630.3
M
SNV
P
2
+
3
1878629
PEX3
c.190A>C
p.Thr64Pro (p.T64P)
NM_003630.3
M
SNV
VUS
1
+
0
631555
PEX3
c.412G>A
p.Gly138Arg (p.G138R)
NM_003630.3
M
SNV
LP
1
+
0
355570
PEX3
c.-175dup
--
NM_003630.3
M
Dup
VUS
1
+
0
355572
PEX3
c.-150CT[3]
--
NM_003630.3
M
MS
VUS
1
+
0
355580
PEX3
c.*307TA[7]
--
NM_003630.3
M
MS
VUS
1
+
0
355581
PEX3
c.*321_*322del
--
NM_003630.3
M
Del
VUS
1
+
0
7 Results, 20 per Page
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