ClinVar Miner

List of variants in gene APOB reported as pathogenic for Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1

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Total variants: 9
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HGVS dbSNP
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp) rs144467873
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln) rs5742904
NM_000384.3(APOB):c.409G>T (p.Glu137Ter) rs766243954
NM_000384.3(APOB):c.4503T>G (p.Tyr1501Ter)
NM_000384.3(APOB):c.6543del (p.Phe2181fs) rs1558564161
NM_000384.3(APOB):c.671del (p.Pro224fs)
NM_000384.3(APOB):c.7537C>T (p.Arg2513Ter)
NM_000384.3(APOB):c.7605C>A (p.Tyr2535Ter) rs1553383473
NM_000384.3(APOB):c.9110_9114TTTTC[1] (p.Phe3039fs) rs1215189537

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