ClinVar Miner

List of variants in gene APOB reported as uncertain significance for Inborn genetic diseases

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Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_000384.3(APOB):c.1010T>A (p.Ile337Asn) rs148126873 0.00013
NM_000384.3(APOB):c.8297C>T (p.Ser2766Phe) rs1225631813 0.00005
NM_000384.3(APOB):c.12136C>T (p.Arg4046Trp) rs200222843 0.00004
NM_000384.3(APOB):c.5705C>T (p.Pro1902Leu) rs368848646 0.00004
NM_000384.3(APOB):c.697C>T (p.Arg233Cys) rs1470195999 0.00004
NM_000384.3(APOB):c.5752G>A (p.Ala1918Thr) rs761213870 0.00003
NM_000384.3(APOB):c.6794A>C (p.Lys2265Thr) rs759255307 0.00003
NM_000384.3(APOB):c.10121T>C (p.Ile3374Thr) rs147052564 0.00002
NM_000384.3(APOB):c.10370C>G (p.Ser3457Cys) rs778985735 0.00002
NM_000384.3(APOB):c.11339C>T (p.Ala3780Val) rs755025293 0.00002
NM_000384.3(APOB):c.2740C>T (p.His914Tyr) rs775976285 0.00002
NM_000384.3(APOB):c.4724A>G (p.Asn1575Ser) rs777879292 0.00002
NM_000384.3(APOB):c.5065C>T (p.Arg1689Cys) rs780820172 0.00002
NM_000384.3(APOB):c.8062G>A (p.Val2688Ile) rs756791670 0.00002
NM_000384.3(APOB):c.10535C>T (p.Thr3512Ile) rs145861016 0.00001
NM_000384.3(APOB):c.12220G>A (p.Val4074Met) rs1038411462 0.00001
NM_000384.3(APOB):c.1249C>G (p.Leu417Val) rs1558574043 0.00001
NM_000384.3(APOB):c.3032T>C (p.Ile1011Thr) rs760691684 0.00001
NM_000384.3(APOB):c.3069G>T (p.Gln1023His) rs1364541592 0.00001
NM_000384.3(APOB):c.442G>A (p.Asp148Asn) rs757289663 0.00001
NM_000384.3(APOB):c.4537C>T (p.Arg1513Trp) rs139621265 0.00001
NM_000384.3(APOB):c.6943G>A (p.Glu2315Lys) rs1223711938 0.00001
NM_000384.3(APOB):c.7984A>C (p.Thr2662Pro) rs886055583 0.00001
NM_000384.3(APOB):c.9798G>C (p.Glu3266Asp) rs749147965 0.00001
NM_000384.3(APOB):c.9815A>G (p.Tyr3272Cys) rs1220960430 0.00001
NM_000384.3(APOB):c.10060G>A (p.Ala3354Thr)
NM_000384.3(APOB):c.10126G>T (p.Ala3376Ser)
NM_000384.3(APOB):c.10331T>A (p.Leu3444His) rs1663143742
NM_000384.3(APOB):c.10466A>C (p.Tyr3489Ser)
NM_000384.3(APOB):c.10585T>G (p.Ser3529Ala)
NM_000384.3(APOB):c.10727T>C (p.Leu3576Pro)
NM_000384.3(APOB):c.10759G>A (p.Ala3587Thr)
NM_000384.3(APOB):c.10877C>T (p.Thr3626Ile)
NM_000384.3(APOB):c.11217T>G (p.Asp3739Glu)
NM_000384.3(APOB):c.11287C>G (p.Leu3763Val)
NM_000384.3(APOB):c.11389T>A (p.Leu3797Ile)
NM_000384.3(APOB):c.11611G>A (p.Val3871Ile)
NM_000384.3(APOB):c.1181T>A (p.Ile394Asn)
NM_000384.3(APOB):c.12110C>T (p.Thr4037Ile)
NM_000384.3(APOB):c.12905T>C (p.Leu4302Pro)
NM_000384.3(APOB):c.13118A>T (p.Glu4373Val)
NM_000384.3(APOB):c.13133A>G (p.His4378Arg)
NM_000384.3(APOB):c.1352+4A>G
NM_000384.3(APOB):c.1606C>G (p.Pro536Ala)
NM_000384.3(APOB):c.1882A>G (p.Met628Val)
NM_000384.3(APOB):c.2033C>T (p.Thr678Ile)
NM_000384.3(APOB):c.2363G>A (p.Ser788Asn)
NM_000384.3(APOB):c.2478T>A (p.Phe826Leu)
NM_000384.3(APOB):c.2722G>C (p.Glu908Gln)
NM_000384.3(APOB):c.2775C>G (p.Ile925Met)
NM_000384.3(APOB):c.2926T>C (p.Cys976Arg)
NM_000384.3(APOB):c.3162T>G (p.Asn1054Lys)
NM_000384.3(APOB):c.318C>A (p.Asn106Lys)
NM_000384.3(APOB):c.3235G>A (p.Val1079Ile)
NM_000384.3(APOB):c.3273A>T (p.Arg1091Ser) rs1663466699
NM_000384.3(APOB):c.3310G>A (p.Val1104Ile)
NM_000384.3(APOB):c.3321G>A (p.Met1107Ile)
NM_000384.3(APOB):c.3323G>A (p.Gly1108Asp)
NM_000384.3(APOB):c.3346G>C (p.Glu1116Gln)
NM_000384.3(APOB):c.3461C>T (p.Ala1154Val)
NM_000384.3(APOB):c.3464C>T (p.Thr1155Ile)
NM_000384.3(APOB):c.373G>C (p.Ala125Pro)
NM_000384.3(APOB):c.392T>G (p.Leu131Arg)
NM_000384.3(APOB):c.4889T>A (p.Ile1630Asn)
NM_000384.3(APOB):c.4923C>A (p.His1641Gln)
NM_000384.3(APOB):c.5254G>A (p.Asp1752Asn)
NM_000384.3(APOB):c.533T>A (p.Phe178Tyr)
NM_000384.3(APOB):c.5552A>C (p.Tyr1851Ser)
NM_000384.3(APOB):c.5606A>G (p.Asn1869Ser)
NM_000384.3(APOB):c.5840A>G (p.Lys1947Arg)
NM_000384.3(APOB):c.6332A>G (p.Tyr2111Cys)
NM_000384.3(APOB):c.6370G>A (p.Asp2124Asn)
NM_000384.3(APOB):c.671C>T (p.Pro224Leu)
NM_000384.3(APOB):c.7175A>T (p.Lys2392Ile)
NM_000384.3(APOB):c.726C>A (p.Ser242Arg)
NM_000384.3(APOB):c.7417A>T (p.Thr2473Ser)
NM_000384.3(APOB):c.7424C>G (p.Ala2475Gly)
NM_000384.3(APOB):c.7726C>G (p.Arg2576Gly) rs767146440
NM_000384.3(APOB):c.8014A>G (p.Ile2672Val)
NM_000384.3(APOB):c.8045G>T (p.Ser2682Ile) rs375053331
NM_000384.3(APOB):c.8081G>C (p.Arg2694Thr)
NM_000384.3(APOB):c.8315A>T (p.Asp2772Val)
NM_000384.3(APOB):c.8779G>C (p.Gly2927Arg)
NM_000384.3(APOB):c.884A>G (p.Asn295Ser)
NM_000384.3(APOB):c.9098T>C (p.Leu3033Ser)
NM_000384.3(APOB):c.9109C>T (p.Leu3037Phe)
NM_000384.3(APOB):c.9287A>G (p.Tyr3096Cys)
NM_000384.3(APOB):c.9830C>T (p.Ala3277Val)

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