The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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- No ClinVar Id was directly found from the curated document
Variant: NM_001354803.2:c.373dup
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA2017997774
Gene: GCK
Condition: monogenic diabetes
Inheritance Mode: Semidominant inheritance
UUID: f5e11f12-31e0-43fe-977d-c6bd48a3ceb8
Approved on: 2023-06-25
Published on: 2023-06-25
HGVS expressions
NM_001354803.2:c.373dup
NC_000007.14:g.44145196dup
CM000669.2:g.44145196dup
NC_000007.13:g.44184795dup
CM000669.1:g.44184795dup
NC_000007.12:g.44151320dup
NG_008847.1:g.49229dup
NG_008847.2:g.57976dup
ENST00000395796.8:c.*1337dup
ENST00000616242.5:c.*459dup
ENST00000683378.1:n.565dup
ENST00000336642.9:c.373dup
ENST00000345378.7:c.1342dup
ENST00000403799.8:c.1339dup
ENST00000671824.1:c.1402dup
ENST00000672743.1:n.351dup
ENST00000673284.1:c.1339dup
ENST00000336642.8:n.391dup
ENST00000345378.6:c.1342dup
ENST00000395796.7:c.1336dup
ENST00000403799.7:c.1339dup
ENST00000437084.1:c.1288dup
ENST00000459642.1:n.719dup
ENST00000616242.4:n.1336dup
NM_000162.3:c.1339dup
NM_033507.1:c.1342dup
NM_033508.1:c.1336dup
NM_000162.4:c.1339dup
NM_001354800.1:c.1339dup
NM_001354801.1:c.328dup
NM_001354802.1:c.199dup
NM_001354803.1:c.373dup
NM_033507.2:c.1342dup
NM_033508.2:c.1336dup
NM_000162.5:c.1339dup
NM_033507.3:c.1342dup
NM_033508.3:c.1336dup
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Evidence submitted by expert panel
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