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_000329.3:c.1336dup
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA2580612187
Gene: RPE65
Condition: RPE65-related recessive retinopathy
Inheritance Mode: Autosomal recessive inheritance
UUID: dbf33565-7a95-454a-ac2e-ba2c69e94c15
Approved on: 2024-02-20
Published on: 2024-02-20
HGVS expressions
NM_000329.3:c.1336dup
NC_000001.11:g.68431284dup
CM000663.2:g.68431284dup
NC_000001.10:g.68896967dup
CM000663.1:g.68896967dup
NC_000001.9:g.68669555dup
NG_008472.1:g.23676dup
NG_008472.2:g.23676dup
ENST00000262340.6:c.1336dup
ENST00000262340.5:c.1336dup
NM_000329.2:c.1336dup
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Evidence submitted by expert panel
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