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.2416dup (p.Val806fs)
CA040715
252330 (ClinVar)
Gene: LDLR
Condition: hypercholesterolemia, familial
Inheritance Mode: Semidominant inheritance
UUID: 3c40ab01-a309-4764-bdc2-4fe4a273586c
Approved on: 2022-08-28
Published on: 2022-08-28
HGVS expressions
NM_000527.5:c.2416dup
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
NC_000019.10:g.11129539dup
CM000681.2:g.11129539dup
NC_000019.9:g.11240215dup
CM000681.1:g.11240215dup
NC_000019.8:g.11101215dup
NG_009060.1:g.45159dup
ENST00000558518.6:c.2416dup
ENST00000252444.9:n.2670dup
ENST00000455727.6:c.1912dup
ENST00000535915.5:c.2293dup
ENST00000545707.5:c.1882dup
ENST00000557933.5:c.2478dup
ENST00000558013.5:c.2416dup
ENST00000558518.5:c.2416dup
ENST00000560628.1:n.108+1885dup
NM_000527.4:c.2416dup
NM_001195798.1:c.2416dup
NM_001195799.1:c.2293dup
NM_001195800.1:c.1912dup
NM_001195803.1:c.1882dup
NM_001195798.2:c.2416dup
NM_001195799.2:c.2293dup
NM_001195800.2:c.1912dup
NM_001195803.2:c.1882dup
Evidence submitted by expert panel
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