List of variants reported as uncertain significance for Glutaric aciduria, type 1 by Illumina Laboratory Services, Illumina

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Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_000159.4(GCDH):c.642G>A (p.Thr214=)	rs142806397	0.00170
NM_000159.4(GCDH):c.1197C>T (p.His399=)	rs139344943	0.00131
NM_000159.4(GCDH):c.-35G>A	rs545594924	0.00105
NM_000159.4(GCDH):c.471C>T (p.Ser157=)	rs146682905	0.00081
NM_000159.4(GCDH):c.*101G>A	rs140251161	0.00067
NM_000159.4(GCDH):c.*70G>A	rs760840900	0.00025
NM_000159.4(GCDH):c.738G>A (p.Ser246=)	rs188548539	0.00023
NM_000159.4(GCDH):c.627C>T (p.Thr209=)	rs143172809	0.00016
NM_000159.4(GCDH):c.1299G>A (p.Ala433=)	rs150271870	0.00008
NM_000159.4(GCDH):c.885C>T (p.Tyr295=)	rs139192015	0.00006
NM_000159.4(GCDH):c.-49G>A	rs886054240	0.00005
NM_000159.4(GCDH):c.1210G>A (p.Ala404Thr)	rs201509112	0.00005
NM_000159.4(GCDH):c.881G>A (p.Arg294Gln)	rs775606471	0.00005
NM_000159.4(GCDH):c.*307G>A	rs533356351	0.00004
NM_000159.4(GCDH):c.945C>T (p.Tyr315=)	rs138133019	0.00004
NM_000159.4(GCDH):c.38G>A (p.Arg13His)	rs550100640	0.00003
NM_000159.4(GCDH):c.876C>T (p.Asn292=)	rs1438245420	0.00003
NM_000159.4(GCDH):c.*96G>T	rs376487828	0.00002
NM_000159.4(GCDH):c.1083-10C>T	rs756372984	0.00002
NM_000159.4(GCDH):c.218C>T (p.Thr73Ile)	rs766884691	0.00002
NM_000159.4(GCDH):c.658G>A (p.Asp220Asn)	rs375357230	0.00002
NM_000159.4(GCDH):c.852+5G>A	rs886054243	0.00001
NM_000159.4(GCDH):c.*61C>T	rs368816047
NM_000159.4(GCDH):c.-34-11C>A	rs367715601
NM_000159.4(GCDH):c.-35+9G>A	rs886054241
NM_000159.4(GCDH):c.-50C>T	rs778329051
NM_000159.4(GCDH):c.-69T>C	rs950955521
NM_000159.4(GCDH):c.240G>C (p.Met80Ile)	rs1970567585
NM_000159.4(GCDH):c.596C>T (p.Ser199Leu)	rs1970669938
NM_000159.4(GCDH):c.691G>A (p.Gly231Ser)	rs1970676051
NM_000159.4(GCDH):c.759G>A (p.Lys253=)	rs886054242
NM_000159.4(GCDH):c.782C>T (p.Thr261Ile)	rs777494547
NM_000159.4(GCDH):c.932C>G (p.Thr311Arg)	rs1970695857
NM_000159.4(GCDH):c.949C>T (p.Leu317Phe)	rs1970696752

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