List of variants reported as pathogenic for ALDH18A1-related de Barsy syndrome

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_002860.4(ALDH18A1):c.1273C>T (p.Arg425Cys)	rs762742204	0.00009
NM_002860.4(ALDH18A1):c.2345A>G (p.Tyr782Cys)	rs774047299	0.00006
NM_002860.4(ALDH18A1):c.2294G>A (p.Arg765Gln)	rs537043237	0.00002
NM_002860.4(ALDH18A1):c.251G>A (p.Arg84Gln)	rs121434582	0.00002
NM_002860.4(ALDH18A1):c.1923+1G>A	rs863223315	0.00001
NM_002860.4(ALDH18A1):c.2246G>A (p.Arg749Gln)	rs748925635	0.00001
NM_002860.4(ALDH18A1):c.991A>C (p.Thr331Pro)	rs765380273	0.00001
NM_002860.4(ALDH18A1):c.1499G>T (p.Gly500Val)	rs1194593234
NM_002860.4(ALDH18A1):c.177del (p.Lys59fs)	rs1555264243
NM_002860.4(ALDH18A1):c.1802-4_1924-902delinsG
NM_002860.4(ALDH18A1):c.2131del (p.Leu711fs)	rs587777858
NM_002860.4(ALDH18A1):c.2350C>T (p.His784Tyr)	rs121434583
NM_002860.4(ALDH18A1):c.401C>T (p.Ser134Phe)	rs2139621988
NM_002860.4(ALDH18A1):c.412C>T (p.Arg138Trp)	rs863225044
NM_002860.4(ALDH18A1):c.413G>T (p.Arg138Leu)	rs863225045
NM_002860.4(ALDH18A1):c.741del (p.Asp247fs)	rs1555262375

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