List of variants reported as pathogenic for Abetalipoproteinaemia by Natera, Inc.

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
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.1783C>T (p.Arg595Ter)	rs199422219	0.00001
NM_001386140.1(MTTP):c.419dup (p.Asn140fs)	rs762901763

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