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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:
GDF3
& Disease:
MCOPCB6
, 4 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
767184
GDF3
c.583C>T
p.Arg195Trp (p.R195W)
NM_020634.3
M
SNV
LB
3
+
2
30594
GDF3
c.820C>T
p.Arg274Trp (p.R274W)
NM_020634.3
M
SNV
P
1
+
1
30591
GDF3
c.796C>T
p.Arg266Cys (p.R266C)
NM_020634.3
M
SNV
P
3
+
1
68474
GDF3
c.974C>T
p.Pro325Leu (p.P325L)
NM_020634.3
M
SNV
VUS
1
+
0
4 Results, 20 per Page
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