List of variants in gene combination APOB, LOC106560211 reported as pathogenic for Hypercholesterolemia, familial, 1

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

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000384.3(APOB):c.35_39del (p.Leu12fs)	rs1664202070
NM_000384.3(APOB):c.35del (p.Leu12fs)
NM_000384.3(APOB):c.39del (p.Leu14fs)
NM_000384.3(APOB):c.44_50del (p.Pro15fs)	rs1235521190

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