ClinVar Miner

List of variants studied for Familial hypobetalipoproteinemia 1 by Genome-Nilou Lab

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000384.3(APOB):c.3843-77T>C rs488329 0.98933
NM_000384.3(APOB):c.7545C>T (p.Thr2515=) rs693 0.38722
NM_000384.3(APOB):c.6936C>T (p.Asp2312=) rs1041968 0.38695
NM_000384.3(APOB):c.12541G>A (p.Glu4181Lys)
NM_000384.3(APOB):c.13013G>A (p.Ser4338Asn)
NM_000384.3(APOB):c.1853C>T (p.Ala618Val)
NM_000384.3(APOB):c.237+92G>T rs661665
NM_000384.3(APOB):c.293C>T (p.Thr98Ile)

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