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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:
LRP6
& Disease:
ADCAD2
, 9 results
Search
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
723536
LRP6
c.3192A>G
p.Val1064= (p.V1064=)
NM_002336.3
M
SNV
B
2
+
2
723537
LRP6
c.2382C>T
p.Asn794= (p.N794=)
NM_002336.3
M
SNV
B
2
+
2
6267
LRP6
c.1831C>T
p.Arg611Cys (p.R611C)
NM_002336.3
M
SNV
P
1
+
1
66054
LRP6
c.1298A>G
p.Asn433Ser (p.N433S)
NM_002336.3
M
SNV
P
1
+
1
66055
LRP6
c.1418G>A
p.Arg473Gln (p.R473Q)
NM_002336.3
M
SNV
P
1
+
1
66056
LRP6
c.1079G>A
p.Arg360His (p.R360H)
NM_002336.3
M
SNV
P
1
+
1
689556
LRP6
c.2218C>T
p.Gln740Ter (p.Q740X)
NM_002336.3
M
SNV
P
3
+
1
1394380
LRP6
c.2203G>A
p.Asp735Asn (p.D735N)
NM_002336.3
M
SNV
VUS
1
+
1
816933
LRP6
c.1118A>G
p.Tyr373Cys (p.Y373C)
NM_002336.3
M
SNV
VUS
2
+
1
9 Results, 20 per Page
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