ClinVar Miner

List of variants in gene APOB, LOC106560211 studied for Familial hypercholesterolemia

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Total variants: 24
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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.218C>A (p.Ala73Asp) rs377171241 0.00003
NM_000384.3(APOB):c.237+4T>C rs1170796077 0.00003
NM_000384.3(APOB):c.133C>G (p.Arg45Gly) rs779776455 0.00002
NM_000384.3(APOB):c.85G>A (p.Glu29Lys) rs768728964 0.00002
NM_000384.3(APOB):c.107G>C (p.Ser36Thr) rs200464882 0.00001
NM_000384.3(APOB):c.110T>A (p.Leu37Gln) rs749171742 0.00001
NM_000384.3(APOB):c.141G>A (p.Lys47=) rs966624272 0.00001
NM_000384.3(APOB):c.152A>G (p.Lys51Arg) rs764776276 0.00001
NM_000384.3(APOB):c.168T>C (p.Tyr56=) rs761116238 0.00001
NM_000384.3(APOB):c.187G>A (p.Gly63Arg) rs904819460 0.00001
NM_000384.3(APOB):c.128C>T (p.Ala43Val) rs780841518
NM_000384.3(APOB):c.129G>A (p.Ala43=) rs12720850
NM_000384.3(APOB):c.143A>T (p.His48Leu) rs1415387096
NM_000384.3(APOB):c.154T>C (p.Tyr52His)
NM_000384.3(APOB):c.157A>T (p.Thr53Ser) rs1553301271
NM_000384.3(APOB):c.202G>A (p.Ala68Thr) rs1558577786
NM_000384.3(APOB):c.215G>A (p.Ser72Asn) rs759881866
NM_000384.3(APOB):c.237+8G>T rs1558577757
NM_000384.3(APOB):c.238-6T>C rs200048290
NM_000384.3(APOB):c.238-9A>T rs1664122164
NM_000384.3(APOB):c.26TGGCGCTGC[1] (p.9LAL[1])

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