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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:
SH3TC2
& Disease:
CMT1E
, 7 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
565731
SH3TC2
c.529+1G>A
--
NM_024577.4
M
SNV
LP
3
+
3
543408
SH3TC2
c.3425_3435del
p.Tyr1142fs (p.Y1142fs)
NM_024577.4
M
Del
P
3
+
2
694968
SH3TC2
c.*861dup
--
NM_024577.4
M
Dup
VUS
3
+
0
694970
SH3TC2
c.3292A>C
p.Thr1098Pro (p.T1098P)
NM_024577.4
M
SNV
VUS
4
+
0
694971
SH3TC2
c.2696T>C
p.Leu899Pro (p.L899P)
NM_024577.4
M
SNV
VUS
2
+
0
694973
SH3TC2
c.2015del
p.Val672fs (p.V672fs)
NM_024577.4
M
Del
VUS
2
+
0
694976
SH3TC2
c.1002-8del
--
NM_024577.4
M
Del
VUS
2
+
0
7 Results, 20 per Page
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