ClinVar Miner

List of variants in gene AUTS2 reported as pathogenic for not provided

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Gene type:
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Total variants: 38
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 7q11.22(chr7:67518091-70095739)x1
GRCh37/hg19 7q11.22(chr7:69220855-69449057)x1
GRCh37/hg19 7q11.22(chr7:69248785-69438070)x1
GRCh37/hg19 7q11.22(chr7:69274353-69464494)x1
GRCh37/hg19 7q11.22(chr7:69489582-69603832)x1
GRCh37/hg19 7q11.22(chr7:69532233-69644230)x1
GRCh37/hg19 7q11.22(chr7:69617684-69932353)x1
GRCh37/hg19 7q11.22(chr7:69659882-69912722)x3
GRCh37/hg19 7q11.22(chr7:69848278-70012732)x3
GRCh37/hg19 7q11.22(chr7:70033048-70217631)x1
GRCh37/hg19 7q11.22(chr7:70147871-70249445)x1
GRCh37/hg19 7q11.22(chr7:70188374-70236724)x1
NC_000007.13:g.(?_69064640)_(70255982_?)del
NC_000007.13:g.(?_69092299)_(70193818_?)del
NC_000007.13:g.(?_70163535)_(70255982_?)del
NC_000007.13:g.(?_70227856)_(70242160_?)del
NM_015570.4(AUTS2):c.1004dup (p.Pro336fs) rs886041671
NM_015570.4(AUTS2):c.1018C>T (p.Gln340Ter) rs2129556993
NM_015570.4(AUTS2):c.1298del (p.Leu433fs) rs1057518198
NM_015570.4(AUTS2):c.1421C>G (p.Ser474Ter)
NM_015570.4(AUTS2):c.1483C>T (p.Arg495Ter) rs1057517708
NM_015570.4(AUTS2):c.1487del (p.Gln496fs) rs1554481713
NM_015570.4(AUTS2):c.1530_1689+690del
NM_015570.4(AUTS2):c.1582C>T (p.Gln528Ter) rs1554481763
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1]) rs1789934246
NM_015570.4(AUTS2):c.1904_1907dup (p.Pro638fs) rs2129558874
NM_015570.4(AUTS2):c.1974G>A (p.Trp658Ter) rs886041609
NM_015570.4(AUTS2):c.2008C>T (p.Gln670Ter) rs1490328774
NM_015570.4(AUTS2):c.2087_2088dup (p.Gly697fs)
NM_015570.4(AUTS2):c.2224+1del
NM_015570.4(AUTS2):c.2343dup (p.Ser782fs) rs1585694219
NM_015570.4(AUTS2):c.2392C>T (p.Arg798Ter) rs2129561031
NM_015570.4(AUTS2):c.3055del (p.Leu1019fs)
NM_015570.4(AUTS2):c.376C>T (p.Arg126Ter) rs1562957809
NM_015570.4(AUTS2):c.624+2T>C rs1064794696
NM_015570.4(AUTS2):c.742+1G>A rs1554464807
NM_015570.4(AUTS2):c.853dup (p.Cys285fs)
NM_015570.4(AUTS2):c.946C>T (p.Arg316Ter) rs1554480537

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