List of variants reported as uncertain significance for Developmental and epileptic encephalopathy, 29

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001605.3(AARS1):c.959G>A (p.Arg320His)	rs557600847	0.00005
NM_001605.3(AARS1):c.1001A>T (p.Tyr334Phe)	rs527414180	0.00001
NM_001605.3(AARS1):c.232G>T (p.Ala78Ser)	rs1387945918	0.00001
NM_001605.3(AARS1):c.2738G>A (p.Gly913Asp)	rs369774476	0.00001
NM_001605.3(AARS1):c.887G>A (p.Arg296Gln)	rs1375611364	0.00001
NM_001605.3(AARS1):c.989G>A (p.Arg330Gln)	rs747838597	0.00001
NM_001605.3(AARS1):c.141C>A (p.Asn47Lys)	rs2507037335
NM_001605.3(AARS1):c.161T>C (p.Leu54Pro)	rs2152167069
NM_001605.3(AARS1):c.1786C>T (p.Pro596Ser)	rs780249378
NM_001605.3(AARS1):c.2248C>T (p.Arg750Trp)	rs751300562
NM_001605.3(AARS1):c.241A>G (p.Lys81Glu)	rs2152167014
NM_001605.3(AARS1):c.259G>A (p.Asp87Asn)	rs763757370
NM_001605.3(AARS1):c.287C>T (p.Thr96Ile)	rs1194157733
NM_001605.3(AARS1):c.74A>G (p.Tyr25Cys)	rs1300927114
NM_001605.3(AARS1):c.86C>T (p.Ser29Phe)	rs2152170413

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