ClinVar Miner

List of variants reported as likely pathogenic for abetalipoproteinemia by Department of Human Genetics, Hannover Medical School

Included ClinVar conditions (3):

Abetalipoproteinaemia
Abetalipoproteinaemia; Metabolic syndrome X
Familial hypobetalipoproteinemia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_001386140.1(MTTP):c.75dup (p.Leu26fs)

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