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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:
IRS1
& Disease:
T2D
, 9 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
29761
IRS1
c.2911G>A
p.Gly971Arg (p.G971R)
NM_005544.3
M
SNV
VUS
2
+
12
29762
IRS1
c.1823C>G
p.Thr608Arg (p.T608R)
NM_005544.3
M
SNV
P
1
+
1
29760
IRS1
c.2164GGT[1]
p.Gly723Del (p.G723del)
NM_005544.3
M
MS
P
1
+
1
225392
IRS1
c.3235C>T
p.Pro1079Ser (p.P1079S)
NM_005544.3
M
SNV
VUS
1
+
1
804395
IRS1
c.158G>A
p.Trp53Ter (p.W53X)
NM_005544.3
M
SNV
LP
3
+
0
522186
IRS1
c.1534G>C
p.Ala512Pro (p.A512P)
NM_005544.3
M
SNV
B
1
+
0
522185
IRS1
c.2039GCA[6]
p.Ser686Del (p.S686del)
NM_005544.3
M
MS
LB
1
+
0
402985
IRS1
c.2452G>C
p.Gly818Arg (p.G818R)
NM_005544.3
M
SNV
LB
1
+
0
774416
IRS1
c.2358T>C
p.His786= (p.H786=)
NM_005544.3
M
SNV
LB
1
+
0
9 Results, 20 per Page
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