ClinVar Miner

List of variants in gene combination APOB, LOC106560211 reported as likely benign for Familial hypercholesterolemia

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000384.3(APOB):c.83-11C>T rs372452800 0.00017
NM_000384.3(APOB):c.237+4T>C rs1170796077 0.00003
NM_000384.3(APOB):c.107G>C (p.Ser36Thr) rs200464882 0.00001
NM_000384.3(APOB):c.141G>A (p.Lys47=) rs966624272 0.00001
NM_000384.3(APOB):c.168T>C (p.Tyr56=) rs761116238 0.00001
NM_000384.3(APOB):c.129G>A (p.Ala43=) rs12720850
NM_000384.3(APOB):c.237+8G>T rs1558577757
NM_000384.3(APOB):c.238-9A>T rs1664122164

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