List of variants in gene APOB, LOC106560211 studied for Familial hypercholesterolemia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 34

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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_000384.3(APOB):c.83-11C>T	rs372452800	0.00017
NM_000384.3(APOB):c.166T>C (p.Tyr56His)	rs150496608	0.00004
NM_000384.3(APOB):c.218C>A (p.Ala73Asp)	rs377171241	0.00003
NM_000384.3(APOB):c.237+4T>C	rs1170796077	0.00003
NM_000384.3(APOB):c.133C>G (p.Arg45Gly)	rs779776455	0.00002
NM_000384.3(APOB):c.85G>A (p.Glu29Lys)	rs768728964	0.00002
NM_000384.3(APOB):c.107G>C (p.Ser36Thr)	rs200464882	0.00001
NM_000384.3(APOB):c.110T>A (p.Leu37Gln)	rs749171742	0.00001
NM_000384.3(APOB):c.141G>A (p.Lys47=)	rs966624272	0.00001
NM_000384.3(APOB):c.152A>G (p.Lys51Arg)	rs764776276	0.00001
NM_000384.3(APOB):c.168T>C (p.Tyr56=)	rs761116238	0.00001
NM_000384.3(APOB):c.187G>A (p.Gly63Arg)	rs904819460	0.00001
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.128C>T (p.Ala43Val)	rs780841518
NM_000384.3(APOB):c.129G>A (p.Ala43=)	rs12720850
NM_000384.3(APOB):c.143A>T (p.His48Leu)	rs1415387096
NM_000384.3(APOB):c.154T>C (p.Tyr52His)
NM_000384.3(APOB):c.157A>T (p.Thr53Ser)	rs1553301271
NM_000384.3(APOB):c.202G>A (p.Ala68Thr)	rs1558577786
NM_000384.3(APOB):c.215G>A (p.Ser72Asn)	rs759881866
NM_000384.3(APOB):c.237+8G>T	rs1558577757
NM_000384.3(APOB):c.238-6T>C	rs200048290
NM_000384.3(APOB):c.238-9A>T	rs1664122164
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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