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

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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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000384.3(APOB):c.82+131A>G	rs12720761	0.01773
NM_000384.3(APOB):c.218C>A (p.Ala73Asp)	rs377171241	0.00003
NM_000384.3(APOB):c.148C>T (p.Arg50Trp)	rs749903604	0.00001
NM_000384.3(APOB):c.-115C>G	rs1800480
NM_000384.3(APOB):c.-18G>A	rs886039825
NM_000384.3(APOB):c.-28C>G	rs886055596
NM_000384.3(APOB):c.122-6C>T	rs1206711447
NM_000384.3(APOB):c.154T>C (p.Tyr52His)
NM_000384.3(APOB):c.35_41del (p.Leu12fs)	rs1553301471
NM_000384.3(APOB):c.37_42del (p.Ala13_Leu14del)	rs1553301469
NM_000384.3(APOB):c.42_43del (p.Pro15fs)	rs1553301466
NM_000384.3(APOB):c.42del (p.Pro15fs)	rs1553301468

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