List of variants reported as pathogenic for Familial hypobetalipoproteinemia 1

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp)	rs144467873	0.00006
APOB, 4-BP DEL, NT36491
NM_000384.3(APOB):c.1003del (p.Lys334_Leu335insTer)	rs2103380592
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000384.3(APOB):c.10848del (p.Gly3617fs)	rs982371659
NM_000384.3(APOB):c.1830-1G>A	rs1399892057
NM_000384.3(APOB):c.226_237+1del	rs2103388847
NM_000384.3(APOB):c.2988_2994del (p.Gly997fs)	rs1057518647
NM_000384.3(APOB):c.3600T>A (p.Tyr1200Ter)	rs121918391
NM_000384.3(APOB):c.4651C>T (p.Gln1551Ter)
NM_000384.3(APOB):c.5116dup (p.Thr1706fs)	rs1553383931
NM_000384.3(APOB):c.6835C>T (p.Gln2279Ter)	rs121918388
NM_000384.3(APOB):c.904+2T>C
NM_000384.3(APOB):c.9115_9119del (p.Phe3039fs)	rs1215189537
NM_000384.3(APOB):c.9523del (p.Ala3175fs)	rs878853973

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