List of variants in gene APOB, APOB3'MAR studied for Familial hypobetalipoproteinemia 1

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000384.3(APOB):c.*11G>T	rs72654428	0.00753
NM_000384.3(APOB):c.*179C>T	rs142151703	0.00443
NM_000384.3(APOB):c.*229A>G	rs72654430	0.00198
NM_000384.3(APOB):c.13680T>C (p.Thr4560=)	rs72654427	0.00064
NM_000384.3(APOB):c.*31T>C	rs188019153	0.00007
NM_000384.3(APOB):c.*130A>T	rs888095957	0.00004
NM_000384.3(APOB):c.*117G>A	rs886055568
NM_000384.3(APOB):c.*180G>T	rs12720763
NM_000384.3(APOB):c.*265G>A	rs886055565
NM_000384.3(APOB):c.*85T>C	rs886055569
NM_000384.3(APOB):c.13589C>T (p.Thr4530Ile)	rs778140846
NM_000384.3(APOB):c.13659G>T (p.Lys4553Asn)	rs886055570

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