ClinVar Miner

List of variants in gene AUTS2 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_015570.4(AUTS2):c.2820G>C (p.Pro940=) rs148406339 0.00166
NM_015570.4(AUTS2):c.611A>G (p.Glu204Gly) rs149961458 0.00140
NM_015570.4(AUTS2):c.865A>G (p.Ile289Val) rs148610030 0.00102
NM_015570.4(AUTS2):c.3754A>G (p.Thr1252Ala) rs138087196 0.00063
NM_015570.4(AUTS2):c.1659C>T (p.Thr553=) rs146990635 0.00051
NM_015570.4(AUTS2):c.1551G>A (p.Pro517=) rs76384598 0.00034
NM_015570.4(AUTS2):c.2241G>A (p.Pro747=) rs143340591 0.00026
NM_015570.4(AUTS2):c.3015G>A (p.Pro1005=) rs373113343 0.00016
NM_015570.4(AUTS2):c.3561G>A (p.Pro1187=) rs148333633 0.00016
NM_015570.4(AUTS2):c.540C>T (p.Asn180=) rs372406859 0.00016
NM_015570.4(AUTS2):c.2251A>C (p.Thr751Pro) rs372998593 0.00014
NM_015570.4(AUTS2):c.1660G>A (p.Ala554Thr) rs367855382 0.00009
NM_015570.4(AUTS2):c.1899G>A (p.Pro633=) rs778155203 0.00008
NM_015570.4(AUTS2):c.2538C>T (p.Ser846=) rs145994529 0.00006
NM_015570.4(AUTS2):c.3714T>G (p.Thr1238=) rs746227597 0.00003
NM_015570.4(AUTS2):c.3460C>T (p.Arg1154Cys) rs374217111 0.00002
NM_015570.4(AUTS2):c.2531+4C>T rs774990776 0.00001
NM_015570.4(AUTS2):c.3159C>T (p.Ser1053=) rs763228966 0.00001
NM_015570.4(AUTS2):c.770C>G (p.Pro257Arg) rs200108105 0.00001
GRCh37/hg19 7q11.22(chr7:68942100-69066733)x3
NM_015570.4(AUTS2):c.147C>T (p.Ala49=)
NM_015570.4(AUTS2):c.153G>C (p.Ser51=)
NM_015570.4(AUTS2):c.1838A>G (p.Asn613Ser)
NM_015570.4(AUTS2):c.1845C>T (p.Ile615=)
NM_015570.4(AUTS2):c.2214T>C (p.Ala738=) rs2129560556
NM_015570.4(AUTS2):c.2319A>G (p.Ser773=)
NM_015570.4(AUTS2):c.2325C>T (p.Phe775=)
NM_015570.4(AUTS2):c.2785G>A (p.Ala929Thr)
NM_015570.4(AUTS2):c.2786C>G (p.Ala929Gly)
NM_015570.4(AUTS2):c.2790C>T (p.Gly930=)
NM_015570.4(AUTS2):c.2862C>T (p.Pro954=)
NM_015570.4(AUTS2):c.3027C>T (p.Asn1009=) rs2129561608
NM_015570.4(AUTS2):c.3168G>A (p.Pro1056=)
NM_015570.4(AUTS2):c.3377ACC[6] (p.His1132_His1133del) rs538005366
NM_015570.4(AUTS2):c.660+10742G>C
NM_015570.4(AUTS2):c.661-145267G>T
NM_015570.4(AUTS2):c.960G>A (p.Pro320=)
NM_015570.4(AUTS2):c.999A>G (p.Gln333=)

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