ClinVar Miner

List of variants reported as likely benign for Familial hypobetalipoproteinemia by Illumina Laboratory Services, Illumina

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_174936.4(PCSK9):c.*537del	rs72646535	0.02413
NM_000384.3(APOB):c.6936_6937inv (p.Ile2313Val)
NM_174936.4(PCSK9):c.*1247AAAC[2]	rs368406783
NM_174936.4(PCSK9):c.*448dup	rs72646533

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