ClinVar Miner

List of variants in gene AUTS2 reported as likely pathogenic for developmental disorder of mental health

Included ClinVar conditions (728):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_015570.4(AUTS2):c.1018C>T (p.Gln340Ter) rs2129556993
NM_015570.4(AUTS2):c.1245_1246del (p.Gln416fs) rs1789811451
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
NM_015570.4(AUTS2):c.983_984del (p.Thr328fs)

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