ClinVar Miner

List of variants in gene APOB reported as pathogenic for Familial hypobetalipoproteinemia

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Total variants: 21
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HGVS dbSNP
APOB, 1-BP DEL, 4432T
APOB, EX21DEL
NM_000384.2(APOB):c.11905del (p.Glu3969Asnfs) rs387906569
NM_000384.3(APOB):c.10633G>T (p.Glu3545Ter) rs759934326
NM_000384.3(APOB):c.11712del (p.Asn3904fs) rs587776852
NM_000384.3(APOB):c.12181del (p.Glu4061fs) rs121918385
NM_000384.3(APOB):c.2786del (p.Pro929fs) rs1553385404
NM_000384.3(APOB):c.3614_3625delinsCTTAGG (p.His1205_Asn1209delinsProTer) rs1553384441
NM_000384.3(APOB):c.3997C>T (p.Arg1333Ter) rs121918383
NM_000384.3(APOB):c.4089C>G (p.Tyr1363Ter) rs1553384177
NM_000384.3(APOB):c.4352del (p.Gly1451fs) rs397514256
NM_000384.3(APOB):c.4429C>T (p.Gln1477Ter) rs121918389
NM_000384.3(APOB):c.5238T>G (p.Tyr1746Ter) rs1553383898
NM_000384.3(APOB):c.5263_5266del (p.Asn1755fs) rs281865425
NM_000384.3(APOB):c.5463del (p.His1822fs) rs397514255
NM_000384.3(APOB):c.5566_5567del (p.Val1856fs) rs121918384
NM_000384.3(APOB):c.6253C>T (p.Arg2085Ter) rs121918386
NM_000384.3(APOB):c.7564C>T (p.Arg2522Ter) rs121918390
NM_000384.3(APOB):c.819-2A>G
NM_000384.3(APOB):c.905-1_905dup rs606231236
NM_000384.3(APOB):c.9200del (p.Lys3067fs) rs121918387

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