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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:
MTM1
& Disease:
CNM
, 8 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
211525
MTM1
c.1089dup
p.Val364fs (p.V364fs)
NM_000252.3
M
Dup
P
2
+
1
MTM1
c.1089dup
p.Val364fs (p.V364fs)
NM_001376906.1
Dup
P
2
+
1
MTM1
c.978dup
p.Val327fs (p.V327fs)
NM_001376907.1
Dup
P
2
+
1
MTM1
c.1089dup
p.Val364fs (p.V364fs)
NM_001376908.1
Dup
P
2
+
1
492808
MTM1
c.1053+5G>A
--
NM_000252.3
M
SNV
VUS
1
+
0
MTM1
c.1053+5G>A
--
NM_001376908.1
SNV
VUS
1
+
0
MTM1
c.1053+5G>A
--
NM_001376906.1
SNV
VUS
1
+
0
MTM1
c.942+5G>A
--
NM_001376907.1
SNV
VUS
1
+
0
8 Results, 20 per Page
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