ClinVar Miner

List of variants reported as likely pathogenic for hypobetalipoproteinemia by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (8):

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_001386140.1(MTTP):c.1344+2T>A
NM_001386140.1(MTTP):c.61+2T>C
NM_016103.4(SAR1B):c.244+1_244+2del

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