ClinVar Miner

List of variants studied for hypobetalipoproteinemia by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_016103.4(SAR1B):c.409G>A (p.Asp137Asn) rs28942109 0.00004
NM_000384.3(APOB):c.7600C>T (p.Arg2534Ter) rs145143533 0.00001
NM_000384.3(APOB):c.3778G>T (p.Glu1260Ter) rs144892654
NM_000384.3(APOB):c.4139_4140del (p.Thr1380fs)
NM_000384.3(APOB):c.631C>T (p.Gln211Ter) rs143301836
NM_000384.3(APOB):c.78_82+5del
NM_000384.3(APOB):c.8739_8740del (p.Leu2914fs)
NM_000384.3(APOB):c.8898dup (p.His2967fs)

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