List of variants reported as benign for abetalipoproteinemia

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Total variants: 40

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HGVS	dbSNP	gnomAD frequency
NM_001386140.1(MTTP):c.*1046C>G	rs1061271	0.59509
NM_001386140.1(MTTP):c.453T>C (p.Gly151=)	rs991811	0.47516
NM_001386140.1(MTTP):c.891C>G (p.His297Gln)	rs2306985	0.47212
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr)	rs3816873	0.26064
NM_000253.3(MTTP):c.-241G>A	rs11944752	0.26041
NM_000253.3(MTTP):c.-252G>C	rs11944749	0.15525
NM_001386140.1(MTTP):c.522T>C (p.Cys174=)	rs982424	0.12209
NM_001386140.1(MTTP):c.969T>C (p.Ala323=)	rs17533489	0.10642
NM_001386140.1(MTTP):c.294G>C (p.Glu98Asp)	rs2306986	0.08726
NM_001386140.1(MTTP):c.497A>G (p.Asn166Ser)	rs3792683	0.08314
NM_001386140.1(MTTP):c.*183C>T	rs74542928	0.08278
NM_001386140.1(MTTP):c.*862C>A	rs6832927	0.08274
NM_001386140.1(MTTP):c.*506A>G	rs6832119	0.08272
NM_001386140.1(MTTP):c.39C>G (p.Ser13=)	rs7667001	0.07507
NM_001386140.1(MTTP):c.1151A>C (p.Asp384Ala)	rs17029215	0.07361
NM_001386140.1(MTTP):c.933C>A (p.Thr311=)	rs17029213	0.07360
NM_001386140.1(MTTP):c.1769+9C>T	rs34734558	0.07357
NM_001386140.1(MTTP):c.285G>C (p.Gln95His)	rs61733139	0.04959
NM_001386140.1(MTTP):c.1769+14C>T	rs41275713	0.03960
NM_001386140.1(MTTP):c.730C>G (p.Gln244Glu)	rs17599091	0.03958
NM_001386140.1(MTTP):c.*113G>C	rs112407688	0.02360
NM_001386140.1(MTTP):c.1981G>A (p.Gly661Ser)	rs113337987	0.02355
NM_001386140.1(MTTP):c.660T>C (p.Tyr220=)	rs113557405	0.02353
NM_001386140.1(MTTP):c.*279C>G	rs115807483	0.01703
NM_001386140.1(MTTP):c.136C>G (p.Arg46Gly)	rs141736123	0.01357
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile)	rs61750974	0.00763
NM_001386140.1(MTTP):c.*267A>C	rs79992570	0.00692
NM_001386140.1(MTTP):c.*588A>G	rs184236038	0.00619
NM_001386140.1(MTTP):c.*796C>T	rs551084925	0.00527
NM_001386140.1(MTTP):c.2043G>A (p.Glu681=)	rs145444300	0.00389
NM_001386140.1(MTTP):c.1731C>T (p.Ala577=)	rs112506924	0.00290
NM_001386140.1(MTTP):c.-6G>A	rs41275707	0.00276
NM_001386140.1(MTTP):c.2673C>T (p.Ser891=)	rs115222767	0.00236
NM_001386140.1(MTTP):c.419A>G (p.Asn140Ser)	rs61733140	0.00170
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe)	rs144590904	0.00141
NM_001386140.1(MTTP):c.111G>A (p.Thr37=)	rs147921439	0.00028
NM_001386140.1(MTTP):c.95G>A (p.Arg32Gln)	rs199537553	0.00010
NM_001386140.1(MTTP):c.2320T>G (p.Ser774Ala)	rs148362467	0.00003
NM_001386140.1(MTTP):c.1715A>G (p.Asn572Ser)	rs772602972
NM_001386140.1(MTTP):c.490A>G (p.Thr164Ala)	rs563558722

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