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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:
MINAR2
& Disease:
DFNB120
, 4 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
2443700
MINAR2
c.144G>A
p.Trp48Ter (p.W48X)
NM_001257308.2
M
SNV
P
1
+
1
2443701
MINAR2
c.412_419del
p.Arg138fs (p.R138fs)
NM_001257308.2
M
Del
P
1
+
1
MINAR2
c.412_419delCGGTTTTG
--
NM_001257308.2
M
Del
P
1
+
1
2443702
MINAR2
c.393G>T
p.Lys131Asn (p.K131N)
NM_001257308.2
M
SNV
P
1
+
1
4 Results, 20 per Page
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