List of variants studied for Abetalipoproteinaemia by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe)	rs144590904	0.00139
NM_001386140.1(MTTP):c.146G>A (p.Gly49Glu)	rs145545828	0.00034
NM_001386140.1(MTTP):c.124G>A (p.Val42Ile)	rs756998920	0.00009
NM_001386140.1(MTTP):c.1385A>T (p.Glu462Val)	rs757598679	0.00001
NM_000253.4(MTTP):c.-149C>A	rs886058955
NM_001386140.1(MTTP):c.367A>G (p.Thr123Ala)

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