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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Variant: NM_000329.3(RPE65):c.495+1dup
CA226556
98872 (ClinVar)
Gene: RPE65
Condition: RPE65-related recessive retinopathy
Inheritance Mode: Autosomal recessive inheritance
UUID: f294a8ca-4abf-45e7-9efb-1db647385330
Approved on: 2023-12-22
Published on: 2023-12-22
HGVS expressions
NM_000329.3:c.495+1dup
NM_000329.3(RPE65):c.495+1dup
NC_000001.11:g.68444531dup
CM000663.2:g.68444531dup
NC_000001.10:g.68910214dup
CM000663.1:g.68910214dup
NC_000001.9:g.68682802dup
NG_008472.1:g.10430dup
NG_008472.2:g.10430dup
ENST00000262340.6:c.495+1dup
ENST00000262340.5:c.495+1dup
NM_000329.2:c.495+1dup
Evidence submitted by expert panel
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