List of variants studied for hypobetalipoproteinemia by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys)	rs372321643	0.00004
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His)	rs199422220	0.00004
NM_001386140.1(MTTP):c.1867+1G>A	rs764189338	0.00004
NM_001386140.1(MTTP):c.2593G>T (p.Gly865Ter)	rs146064714	0.00004
NM_001386140.1(MTTP):c.1392del (p.Glu465fs)	rs1725827570	0.00001
NM_001386140.1(MTTP):c.1783C>T (p.Arg595Ter)	rs199422219	0.00001
NM_001386140.1(MTTP):c.1867+5G>A	rs1429774833	0.00001
NM_001386140.1(MTTP):c.1949del (p.Ile650fs)	rs1725952378	0.00001
NC_000004.11:g.(100521891_100522763)_(100534298_100540130)del
NM_001386140.1(MTTP):c.2212del (p.Ser738fs)	rs755681036
NM_001386140.1(MTTP):c.2342+1G>A
NM_001386140.1(MTTP):c.307A>T (p.Lys103Ter)	rs1560614646
NM_001386140.1(MTTP):c.419dup (p.Asn140fs)	rs762901763

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