List of variants reported as benign for ALDH18A1-related de Barsy syndrome by Illumina Laboratory Services, Illumina

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_002860.4(ALDH18A1):c.*155G>A	rs1053905	0.42481
NM_002860.4(ALDH18A1):c.2206+15G>A	rs10882640	0.39029
NM_002860.4(ALDH18A1):c.*699C>T	rs4037	0.28027
NM_002860.4(ALDH18A1):c.*412T>C	rs8758	0.27959
NM_002860.4(ALDH18A1):c.896C>T (p.Thr299Ile)	rs2275272	0.10214
NM_002860.4(ALDH18A1):c.-79A>G	rs117502632	0.03469
NM_002860.4(ALDH18A1):c.1770C>T (p.Ser590=)	rs11541780	0.03433
NM_002860.4(ALDH18A1):c.1977C>T (p.Ser659=)	rs1804934	0.02975
NM_002860.4(ALDH18A1):c.1029T>C (p.Ile343=)	rs41291566	0.02201
NM_002860.4(ALDH18A1):c.1115C>A (p.Ser372Tyr)	rs3765571	0.01418
NM_002860.4(ALDH18A1):c.*611G>A	rs41291562	0.01242
NM_002860.4(ALDH18A1):c.*140C>T	rs76824727	0.00570
NM_002860.4(ALDH18A1):c.*56T>A	rs114393346	0.00549
NM_002860.4(ALDH18A1):c.2001G>A (p.Glu667=)	rs78731297	0.00326
NM_002860.4(ALDH18A1):c.1329C>T (p.Ile443=)	rs117709404	0.00134
NM_002860.4(ALDH18A1):c.*227A>G	rs943341	0.00129

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