ClinVar Miner

List of variants studied for Hypercholesterolemia, familial, 1 by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000384.3(APOB):c.13059C>A (p.Cys4353Ter) rs935792706 0.00001
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser) rs758194385 0.00001
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.2027del (p.Gly676fs) rs875989937
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu) rs121908028

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