List of variants reported as likely pathogenic for Hypobetalipoproteinemia

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000384.3(APOB):c.11812_11813del (p.Asp3938fs)	rs1553382678
NM_000384.3(APOB):c.13025del (p.Pro4342fs)	rs797045253
NM_000384.3(APOB):c.2988_2994del (p.Gly997fs)	rs1057518647
NM_000384.3(APOB):c.631C>T (p.Gln211Ter)	rs143301836

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