ClinVar Miner

List of variants studied for Familial hypercholesterolemia by National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230 0.00004
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro) rs730882098 0.00001
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser) rs730882106 0.00001
NM_000527.5(LDLR):c.932A>C (p.Lys311Thr) rs761765254 0.00001
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)

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