List of variants in gene combination APOB, LOC106560211 reported as benign for Familial hypercholesterolemia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000384.3(APOB):c.129G>C (p.Ala43=)	rs12720850	0.00580
NM_000384.3(APOB):c.-79T>C	rs535018963	0.00035
NM_000384.2(APOB):c.-277C>T
NM_000384.2(APOB):c.-393T>C
NM_000384.2(APOB):c.-430C>A
NM_000384.2(APOB):c.-644C>T
NM_000384.2(APOB):c.-965A>G
NM_000384.3(APOB):c.-115C>G	rs1800480
NM_000384.3(APOB):c.121+22C>A
NM_000384.3(APOB):c.238-6T>C	rs200048290
NM_000384.3(APOB):c.26TGGCGCTGC[1] (p.9LAL[1])
NM_000384.3(APOB):c.49CTG[5] (p.Leu22del)	rs745520533
NM_000384.3(APOB):c.49CTG[8] (p.Leu21_Leu22dup)	rs745520533

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