List of variants reported as likely pathogenic for autism spectrum disorder due to AUTS2 deficiency

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_003482.4(KMT2D):c.1769dup (p.Met590fs)	rs1565819425
NM_015570.4(AUTS2):c.1018C>T (p.Gln340Ter)	rs2129556993
NM_015570.4(AUTS2):c.1486dup (p.Gln496fs)	rs869312878
NM_015570.4(AUTS2):c.1557C>A (p.Tyr519Ter)
NM_015570.4(AUTS2):c.1600A>C (p.Thr534Pro)	rs1563183469
NM_015570.4(AUTS2):c.1603C>T (p.His535Tyr)	rs1563183492
NM_015570.4(AUTS2):c.1604A>C (p.His535Pro)	rs1585653240
NM_015570.4(AUTS2):c.1611C>A (p.His537Gln)	rs1383001370
NM_015570.4(AUTS2):c.1647dup (p.Ile550fs)
NM_015570.4(AUTS2):c.1775del (p.Pro592fs)
NM_015570.4(AUTS2):c.2005-1G>C
NM_015570.4(AUTS2):c.2224+1G>T
NM_015570.4(AUTS2):c.2481_2484dup (p.Asp829Ter)
NM_015570.4(AUTS2):c.376C>T (p.Arg126Ter)	rs1562957809
NM_015570.4(AUTS2):c.454C>T (p.Arg152Ter)
NM_015570.4(AUTS2):c.478C>T (p.Gln160Ter)	rs2129540473
NM_015570.4(AUTS2):c.784C>T (p.Gln262Ter)	rs1585645384
NM_015570.4(AUTS2):c.946C>T (p.Arg316Ter)	rs1554480537

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