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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:
MYH7
& Disease:
SCD
, 6 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
862006
MYH7
c.345+1G>A
--
NM_000257.4
M
SNV
LP
10
+
3
MYH7
c.345+1G>A
--
NM_001407004.1
SNV
LP
10
+
3
978280
MYH7
c.4543C>G
p.Gln1515Glu (p.Q1515E)
NM_000257.4
M
SNV
VUS
3
+
2
660218
MYH7
c.4756G>A
p.Ala1586Thr (p.A1586T)
NM_000257.4
M
SNV
VUS
12
+
2
222733
MYH7
c.3853+1G>A
--
NM_000257.4
M
SNV
VUS
1
+
1
MYH7
c.3853+1G>A
--
NM_001407004.1
SNV
VUS
1
+
1
6 Results, 20 per Page
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