List of variants reported as likely pathogenic for Familial hypobetalipoproteinemia 1

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_000384.3(APOB):c.3740A>G (p.Tyr1247Cys)	rs61741164	0.00071
NM_000384.3(APOB):c.2258G>A (p.Gly753Glu)	rs148502464	0.00012
NM_000384.3(APOB):c.9491C>T (p.Thr3164Met)	rs143269114	0.00007
NM_000384.3(APOB):c.7570T>C (p.Tyr2524His)	rs933777198	0.00004
NM_000384.3(APOB):c.10238del (p.Thr3413fs)	rs756209187	0.00003
NM_000384.3(APOB):c.7939A>C (p.Thr2647Pro)	rs748143305	0.00003
NM_000384.3(APOB):c.2604+1G>A	rs775345377	0.00002
NM_000384.3(APOB):c.12696T>A (p.Tyr4232Ter)	rs1466172660	0.00001
NM_000384.3(APOB):c.409G>T (p.Glu137Ter)	rs766243954	0.00001
NM_000384.3(APOB):c.7564C>T (p.Arg2522Ter)	rs121918390	0.00001
NM_000384.3(APOB):c.10171del (p.Arg3391fs)	rs1663151257
NM_000384.3(APOB):c.1054G>T (p.Val352Phe)	rs1572799173
NM_000384.3(APOB):c.1279C>T (p.Arg427Ter)	rs1168594259
NM_000384.3(APOB):c.3127A>T (p.Lys1043Ter)
NM_000384.3(APOB):c.3490A>G (p.Arg1164Gly)
NM_000384.3(APOB):c.4571C>T (p.Ser1524Phe)	rs1572785480
NM_000384.3(APOB):c.5893G>T (p.Glu1965Ter)	rs1663298665
NM_000384.3(APOB):c.631C>T (p.Gln211Ter)	rs143301836
NM_000384.3(APOB):c.78_82+5del

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