List of variants in gene AUTS2 reported as pathogenic for multiple congenital anomalies/dysmorphic syndrome-intellectual disability

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_015570.4(AUTS2):c.1135C>T (p.Gln379Ter)
NM_015570.4(AUTS2):c.1298del (p.Leu433fs)	rs1057518198
NM_015570.4(AUTS2):c.1483C>T (p.Arg495Ter)	rs1057517708
NM_015570.4(AUTS2):c.1531G>A (p.Gly511Arg)
NM_015570.4(AUTS2):c.1534dup (p.Ala512fs)	rs1789927813
NM_015570.4(AUTS2):c.1547dup (p.Pro517fs)	rs1585653028
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1])	rs1789934246
NM_015570.4(AUTS2):c.1882_1883del (p.Leu628fs)	rs1585667374
NM_015570.4(AUTS2):c.1902+1G>A
NM_015570.4(AUTS2):c.1913del (p.Pro638fs)	rs2129558877
NM_015570.4(AUTS2):c.1995_1996del (p.Lys666fs)	rs2129559195
NM_015570.4(AUTS2):c.1A>T (p.Met1Leu)	rs2129067294
NM_015570.4(AUTS2):c.2218del (p.His740fs)
NM_015570.4(AUTS2):c.2T>C (p.Met1Thr)	rs1792258600
NM_015570.4(AUTS2):c.357_361dup (p.Leu121fs)	rs1554401434
NM_015570.4(AUTS2):c.376C>T (p.Arg126Ter)	rs1562957809
NM_015570.4(AUTS2):c.390_393dup (p.Gly132fs)
NM_015570.4(AUTS2):c.392_393dup (p.Gly132fs)
NM_015570.4(AUTS2):c.479_487delinsC (p.Gln160fs)	rs2129540475
NM_015570.4(AUTS2):c.742+1G>A	rs1554464807
NM_015570.4(AUTS2):c.742_742+3del
NM_015570.4(AUTS2):c.857_858del (p.Lys286fs)	rs864321694
NM_015570.4(AUTS2):c.901C>T (p.Gln301Ter)	rs1585645641
NM_015570.4(AUTS2):c.940C>T (p.Gln314Ter)
NM_015570.4(AUTS2):c.946C>T (p.Arg316Ter)	rs1554480537
NM_015570.4:c.(690+1_691-1)_(742+1_743-1)del
Single allele

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