ClinVar Miner

List of variants in gene APOB reported by Iberoamerican FH Network

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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000384.3(APOB):c.1470+15T>C rs185550846 0.00078
NM_000384.3(APOB):c.5599C>T (p.Arg1867Trp) rs200583769 0.00024
NM_000384.3(APOB):c.11354C>T (p.Thr3785Ile) rs143710616 0.00019
NM_000384.3(APOB):c.11466G>A (p.Val3822=) rs755842633 0.00011
NM_000384.3(APOB):c.10262T>C (p.Met3421Thr) rs755119833 0.00003
NM_000384.3(APOB):c.10679A>G (p.Tyr3560Cys) rs745721296 0.00001
NM_000384.3(APOB):c.1266A>G (p.Ser422=) rs752197838 0.00001
NM_000384.3(APOB):c.10163C>T (p.Thr3388Ile) rs1553383038
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000384.3(APOB):c.11401T>A (p.Ser3801Thr)
NM_000384.3(APOB):c.2184T>C (p.Asp728=) rs1325443043
NM_000384.3(APOB):c.3337G>C (p.Asp1113His)
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del) rs541497967
NM_000384.3(APOB):c.6979G>A (p.Asp2327Asn) rs1553383590
NM_000384.3(APOB):c.814_816del (p.Tyr272del) rs1553386960

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