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_000527.5(LDLR):c.2407_2424dup (p.Cys803_Leu808dup)
CA10585855
252325 (ClinVar)
Gene: LDLR
Condition: hypercholesterolemia, familial
Inheritance Mode: Semidominant inheritance
UUID: bc76f87d-3c5d-4c8a-93b1-2ee30e097149
Approved on: 2022-08-29
Published on: 2022-12-23
HGVS expressions
NM_000527.5:c.2407_2424dup
NM_000527.5(LDLR):c.2407_2424dup (p.Cys803_Leu808dup)
NC_000019.10:g.11129530_11129547dup
CM000681.2:g.11129530_11129547dup
NC_000019.9:g.11240206_11240223dup
CM000681.1:g.11240206_11240223dup
NC_000019.8:g.11101206_11101223dup
NG_009060.1:g.45150_45167dup
ENST00000558518.6:c.2407_2424dup
ENST00000252444.9:n.2661_2678dup
ENST00000455727.6:c.1903_1920dup
ENST00000535915.5:c.2284_2301dup
ENST00000545707.5:c.1873_1890dup
ENST00000557933.5:c.2469_2486dup
ENST00000558013.5:c.2407_2424dup
ENST00000558518.5:c.2407_2424dup
ENST00000560628.1:n.108+1876_108+1893dup
NM_000527.4:c.2407_2424dup
NM_001195798.1:c.2407_2424dup
NM_001195799.1:c.2284_2301dup
NM_001195800.1:c.1903_1920dup
NM_001195803.1:c.1873_1890dup
NM_001195798.2:c.2407_2424dup
NM_001195799.2:c.2284_2301dup
NM_001195800.2:c.1903_1920dup
NM_001195803.2:c.1873_1890dup
Evidence submitted by expert panel
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