ClinVar Miner

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

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Gene type:
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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_015665.6(AAAS):c.57_58del (p.Tyr19_Glu20delinsTer) rs552637666 0.00018
NM_015665.6(AAAS):c.1432C>T (p.Arg478Ter) rs121918548 0.00007
NM_015665.6(AAAS):c.1066_1067del (p.Leu356fs) rs763216820 0.00006
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro) rs121918550 0.00005
NM_015665.6(AAAS):c.1191dup (p.Glu398fs) rs746305979 0.00003
NM_015665.6(AAAS):c.1331+1G>A rs150511103 0.00003
NM_015665.6(AAAS):c.251G>A (p.Trp84Ter) rs754637718 0.00003
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) rs121918549 0.00003
NM_015665.6(AAAS):c.856C>T (p.Arg286Ter) rs145446970 0.00002
NM_015665.6(AAAS):c.1159C>T (p.Gln387Ter) rs763820204 0.00001
NM_015665.6(AAAS):c.1300C>T (p.Arg434Ter) rs751369041 0.00001
NM_015665.6(AAAS):c.355C>T (p.Arg119Ter) rs754078574 0.00001
NM_015665.6(AAAS):c.464G>A (p.Arg155His) rs758440592 0.00001
NM_015665.6(AAAS):c.934C>T (p.Arg312Ter) rs121918547 0.00001
NC_000012.11:g.(?_53701273)_(53709586_?)del
NC_000012.11:g.(?_53708062)_(53708944_?)del
NC_000012.11:g.(?_53708062)_(53709586_?)del
NC_000012.11:g.(?_53708515)_(53709586_?)del
NC_000012.11:g.(?_53714329)_(53715249_?)del
NM_015665.5(AAAS):c.310_317delTTTGAGTG rs886041850
NM_015665.5(AAAS):c.936_937delAG rs1592513048
NM_015665.6(AAAS):c.1024C>T (p.Arg342Ter) rs757303233
NM_015665.6(AAAS):c.1117_1118del (p.Lys373fs)
NM_015665.6(AAAS):c.1144_1147del (p.Ser382fs) rs770214071
NM_015665.6(AAAS):c.1147_1151del (p.Glu383fs)
NM_015665.6(AAAS):c.1157_1160del (p.Ile386fs)
NM_015665.6(AAAS):c.1310_1311del (p.Pro437fs) rs2121081890
NM_015665.6(AAAS):c.1320dup (p.Leu441fs)
NM_015665.6(AAAS):c.1331+1G>C
NM_015665.6(AAAS):c.1332-2A>T rs1565776390
NM_015665.6(AAAS):c.1366del (p.Gln456fs)
NM_015665.6(AAAS):c.1389del (p.Phe464fs) rs2121080959
NM_015665.6(AAAS):c.1416+1G>A
NM_015665.6(AAAS):c.1416+2T>C
NM_015665.6(AAAS):c.211_214dup (p.His72fs)
NM_015665.6(AAAS):c.211del (p.His71fs) rs765577880
NM_015665.6(AAAS):c.254del (p.Arg85fs)
NM_015665.6(AAAS):c.352dup (p.Cys118fs)
NM_015665.6(AAAS):c.370del (p.Leu124fs)
NM_015665.6(AAAS):c.409G>T (p.Glu137Ter)
NM_015665.6(AAAS):c.433C>T (p.Gln145Ter) rs1944441987
NM_015665.6(AAAS):c.43C>T (p.Gln15Ter) rs121918549
NM_015665.6(AAAS):c.446+1G>T
NM_015665.6(AAAS):c.479A>G (p.His160Arg) rs1297831120
NM_015665.6(AAAS):c.489_511dup (p.Leu171fs)
NM_015665.6(AAAS):c.500C>A (p.Ala167Glu) rs1017700992
NM_015665.6(AAAS):c.500C>T (p.Ala167Val) rs1017700992
NM_015665.6(AAAS):c.508del (p.Leu170fs)
NM_015665.6(AAAS):c.580C>T (p.Arg194Ter) rs750775106
NM_015665.6(AAAS):c.618del (p.Ser207fs) rs1380453534
NM_015665.6(AAAS):c.688C>T (p.Arg230Ter) rs758057774
NM_015665.6(AAAS):c.709C>T (p.Gln237Ter) rs2121089867
NM_015665.6(AAAS):c.70G>T (p.Glu24Ter)
NM_015665.6(AAAS):c.712del (p.Val238fs)
NM_015665.6(AAAS):c.762del (p.Ser255fs) rs746057093
NM_015665.6(AAAS):c.771del (p.Arg258fs) rs1184877278
NM_015665.6(AAAS):c.810+1G>A
NM_015665.6(AAAS):c.816G>A (p.Trp272Ter)
NM_015665.6(AAAS):c.855_856delinsTT (p.Arg286Ter)
NM_015665.6(AAAS):c.885G>A (p.Trp295Ter) rs766542823
NM_015665.6(AAAS):c.956G>A (p.Trp319Ter)
NM_015665.6(AAAS):c.972G>A (p.Trp324Ter)

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