ClinVar Miner

List of variants in gene APOB reported as uncertain significance for Familial hypercholesterolemia

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000384.3(APOB):c.11288T>C (p.Leu3763Pro) rs1663106152 0.00001
NM_000384.3(APOB):c.10072A>C (p.Asn3358His) rs1663155110
NM_000384.3(APOB):c.10147G>A (p.Gly3383Ser) rs1663152041
NM_000384.3(APOB):c.10540G>A (p.Ala3514Thr) rs747633151
NM_000384.3(APOB):c.13320del (p.Glu4441fs) rs750076573
NM_000384.3(APOB):c.6047A>G (p.Asp2016Gly)
NM_000384.3(APOB):c.6592A>G (p.Ile2198Val)
NM_000384.3(APOB):c.9105T>A (p.Asn3035Lys) rs147510760

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