ClinVar Miner

List of variants in gene combination APOB, LOC106560211 reported as benign for Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000384.3(APOB):c.129G>C (p.Ala43=) rs12720850 0.00580
NM_000384.3(APOB):c.83-11C>T rs372452800 0.00017
NM_000384.3(APOB):c.166T>C (p.Tyr56His) rs150496608 0.00004
NM_000384.3(APOB):c.168T>C (p.Tyr56=) rs761116238 0.00001
NM_000384.3(APOB):c.215G>T (p.Ser72Ile) rs759881866 0.00001
NM_000384.3(APOB):c.238-6T>C rs200048290
NM_000384.3(APOB):c.26TGGCGCTGC[1] (p.9LAL[1])
NM_000384.3(APOB):c.49CTG[5] (p.Leu22del) rs745520533
NM_000384.3(APOB):c.49CTG[8] (p.Leu21_Leu22dup) rs745520533

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