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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:
POLG2
& Disease:
MTDPS16B
, 5 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
260154
POLG2
c.1191+7dup
--
NM_007215.4
M
Dup
B
3
+
2
POLG2
c.1191+6dup
--
NM_007215.4
M
Dup
B
3
+
2
138782
POLG2
c.505G>A
p.Ala169Thr (p.A169T)
NM_007215.4
M
SNV
B
3
+
2
1180427
POLG2
c.1297G>T
p.Asp433Tyr (p.D433Y)
NM_007215.4
M
SNV
P
1
+
1
1242149
POLG2
c.1110+44T>C
--
NM_007215.4
M
SNV
B
3
+
1
5 Results, 20 per Page
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