List of variants reported as uncertain significance for Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome by Illumina Laboratory Services, Illumina

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Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_018122.5(DARS2):c.128-4A>T	rs769597479	0.00300
NM_018122.5(DARS2):c.-219C>T	rs569117944	0.00059
NM_018122.5(DARS2):c.261T>C (p.Asp87=)	rs182096636	0.00056
NM_018122.5(DARS2):c.*168C>T	rs550840346	0.00049
NM_018122.5(DARS2):c.-147A>G	rs866230478	0.00037
NM_018122.5(DARS2):c.1758C>T (p.Asp586=)	rs371048800	0.00031
NM_018122.5(DARS2):c.1241T>C (p.Val414Ala)	rs376973272	0.00014
NM_018122.5(DARS2):c.1558A>C (p.Lys520Gln)	rs201876507	0.00010
NM_018122.5(DARS2):c.-533G>A	rs533128814	0.00009
NM_018122.5(DARS2):c.-543C>T	rs936318556	0.00009
NM_018122.5(DARS2):c.-522G>C	rs886045585	0.00005
NM_018122.5(DARS2):c.*152A>C	rs555583349	0.00004
NM_018122.5(DARS2):c.*587G>A	rs567773377	0.00004
NM_018122.5(DARS2):c.1063T>A (p.Phe355Ile)	rs886045589	0.00003
NM_018122.5(DARS2):c.*644G>A	rs542846978	0.00002
NM_018122.5(DARS2):c.834T>C (p.Phe278=)	rs117574607	0.00002
NM_018122.5(DARS2):c.*653T>G	rs886045593	0.00001
NM_018122.5(DARS2):c.1588G>A (p.Val530Ile)	rs746220344	0.00001
NM_018122.5(DARS2):c.567G>A (p.Leu189=)	rs547708828	0.00001
NM_018122.5(DARS2):c.*431G>A	rs886045592
NM_018122.5(DARS2):c.-488G>C	rs1652389811
NM_018122.5(DARS2):c.1182T>C (p.His394=)	rs569842479
NM_018122.5(DARS2):c.1191+1G>C	rs754063468
NM_018122.5(DARS2):c.1305A>T (p.Glu435Asp)	rs763171850
NM_018122.5(DARS2):c.1390G>C (p.Glu464Gln)	rs1653747521
NM_018122.5(DARS2):c.1715A>C (p.Asp572Ala)	rs886045590
NM_018122.5(DARS2):c.1750+11T>C	rs535671373
NM_018122.5(DARS2):c.1804A>G (p.Ile602Val)	rs779305793
NM_018122.5(DARS2):c.1829G>C (p.Gly610Ala)	rs886045591
NM_018122.5(DARS2):c.228-10C>G	rs201817953
NM_018122.5(DARS2):c.228-10C>T	rs201817953
NM_018122.5(DARS2):c.228-13C>G	rs549430098

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