ClinVar Miner

List of variants studied for Familial hypobetalipoproteinemia by OMIM

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Total variants: 16
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APOB, 1-BP DEL, 4432T
NM_000384.2(APOB):c.11905del (p.Glu3969Asnfs) rs387906569
NM_000384.3(APOB):c.11712del (p.Asn3904fs) rs587776852
NM_000384.3(APOB):c.12181del (p.Glu4061fs) rs121918385
NM_000384.3(APOB):c.3997C>T (p.Arg1333Ter) rs121918383
NM_000384.3(APOB):c.4352del (p.Gly1451fs) rs397514256
NM_000384.3(APOB):c.4429C>T (p.Gln1477Ter) rs121918389
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.905-1_905dup rs606231236
NM_000384.3(APOB):c.9200del (p.Lys3067fs) rs121918387

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