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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:
Polyhydramnios
, 4 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
599006
MTM1
c.1262G>T
p.Arg421Leu (p.R421L)
NM_000252.3
M
SNV
P
2
+
1
MTM1
c.1262G>T
p.Arg421Leu (p.R421L)
NM_001376906.1
SNV
P
2
+
1
MTM1
c.1151G>T
p.Arg384Leu (p.R384L)
NM_001376907.1
SNV
P
2
+
1
MTM1
c.1262G>T
p.Arg421Leu (p.R421L)
NM_001376908.1
SNV
P
2
+
1
4 Results, 20 per Page
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