ClinVar Miner

List of variants in gene AAAS studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_015665.6(AAAS):c.1088-59A>G rs4759287 0.96514
NM_015665.6(AAAS):c.251+59A>C rs4759232 0.94301
NM_015665.6(AAAS):c.689+71C>G rs7953255 0.93983
NM_015665.6(AAAS):c.252-142C>A rs7960963 0.93441
NM_015665.6(AAAS):c.124-33A>C rs7298879 0.92298
NM_015665.6(AAAS):c.124-20T>C rs4759231 0.92286
NM_015665.6(AAAS):c.855C>T (p.Phe285=) rs1546808 0.91562
NM_015665.6(AAAS):c.414T>C (p.Asp138=) rs11540353 0.07449
NM_015665.6(AAAS):c.1557T>C (p.Thr519=) rs112987708 0.02027
NM_015665.6(AAAS):c.1515T>C (p.Pro505=) rs35282133 0.00843
NM_015665.6(AAAS):c.1597G>A (p.Gly533Arg) rs34451260 0.00840
NM_015665.6(AAAS):c.679T>C (p.Leu227=) rs80027466 0.00392
NM_015665.5(AAAS):c.*32C>T rs138994144 0.00246
NM_015665.6(AAAS):c.1249+8G>A rs200834285 0.00155
NM_015665.6(AAAS):c.1301G>A (p.Arg434Gln) rs112579822 0.00039
NM_015665.6(AAAS):c.327G>T (p.Thr109=) rs190876509 0.00038
NM_015665.6(AAAS):c.638G>C (p.Cys213Ser) rs144873582 0.00031
NM_015665.6(AAAS):c.63C>G (p.His21Gln) rs200408293 0.00030
NM_015665.6(AAAS):c.1416+8C>T rs370325323 0.00027
NM_015665.6(AAAS):c.1244T>C (p.Met415Thr) rs200871966 0.00019
NM_015665.6(AAAS):c.996+12C>T rs200312077 0.00019
NM_015665.6(AAAS):c.1070C>T (p.Ser357Phe) rs368094339 0.00014
NM_015665.6(AAAS):c.843C>G (p.Pro281=) rs145196232 0.00009
NM_015665.6(AAAS):c.308T>C (p.Val103Ala) rs201692749 0.00008
NM_015665.6(AAAS):c.1432C>T (p.Arg478Ter) rs121918548 0.00007
NM_015665.6(AAAS):c.333C>T (p.Ser111=) rs146770218 0.00007
NM_015665.6(AAAS):c.939C>T (p.Val313=) rs79881935 0.00007
NM_015665.6(AAAS):c.772C>T (p.Arg258Trp) rs182489063 0.00005
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro) rs121918550 0.00005
NM_015665.6(AAAS):c.1498C>T (p.Arg500Trp) rs886049649 0.00004
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.307+13C>T rs761242924 0.00003
NM_015665.6(AAAS):c.362C>T (p.Ala121Val) rs201451157 0.00003
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) rs121918549 0.00003
NM_015665.6(AAAS):c.667G>C (p.Asp223His) rs141013947 0.00003
NM_015665.6(AAAS):c.819T>C (p.Asp273=) rs149487112 0.00003
NM_015665.6(AAAS):c.894C>T (p.Asp298=) rs199636211 0.00003
NM_015665.6(AAAS):c.234G>A (p.Lys78=) rs145519240 0.00002
NM_015665.6(AAAS):c.663C>G (p.Thr221=) rs886049650 0.00002
NM_015665.6(AAAS):c.808C>T (p.Arg270Trp) rs779681475 0.00002
NM_015665.6(AAAS):c.1087+1G>A rs1035139364 0.00001
NM_015665.6(AAAS):c.11T>C (p.Leu4Pro) rs886049652 0.00001
NM_015665.6(AAAS):c.1229G>A (p.Arg410His) rs768786904 0.00001
NM_015665.6(AAAS):c.124-4A>G rs886049651 0.00001
NM_015665.6(AAAS):c.1300C>T (p.Arg434Ter) rs751369041 0.00001
NM_015665.6(AAAS):c.1417-14T>G rs748004231 0.00001
NM_015665.6(AAAS):c.1448C>T (p.Pro483Leu) rs751967235 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.721C>T (p.His241Tyr) rs1944356188 0.00001
NM_015665.6(AAAS):c.847C>T (p.Pro283Ser) rs1745022731 0.00001
NM_015665.6(AAAS):c.934C>T (p.Arg312Ter) rs121918547 0.00001
NM_015665.6(AAAS):c.938T>C (p.Val313Ala) rs773601814 0.00001
NM_015665.6(AAAS):c.981A>G (p.Leu327=) rs1174765635 0.00001
NM_015665.6(AAAS):c.988C>T (p.Arg330Cys) rs560069464 0.00001
NM_015665.5(AAAS):c.936_937delAG rs1592513048
NM_015665.6(AAAS):c.1058T>C (p.Ile353Thr) rs765757844
NM_015665.6(AAAS):c.1087G>A (p.Gly363Ser)
NM_015665.6(AAAS):c.1144_1147del (p.Ser382fs) rs770214071
NM_015665.6(AAAS):c.1223G>A (p.Gly408Glu)
NM_015665.6(AAAS):c.1264_1273del (p.Gln422fs) rs2121082201
NM_015665.6(AAAS):c.1357_1358dup (p.Gln454fs) rs2121081165
NM_015665.6(AAAS):c.1448del (p.Pro483fs)
NM_015665.6(AAAS):c.1450C>G (p.Leu484Val) rs764298213
NM_015665.6(AAAS):c.1566C>T (p.Ser522=) rs886049648
NM_015665.6(AAAS):c.1591C>T (p.Leu531Phe) rs886049647
NM_015665.6(AAAS):c.200C>T (p.Thr67Ile) rs1114167372
NM_015665.6(AAAS):c.211del (p.His71fs) rs765577880
NM_015665.6(AAAS):c.250del (p.Trp84fs) rs2136820957
NM_015665.6(AAAS):c.258T>A (p.Asp86Glu) rs749899811
NM_015665.6(AAAS):c.259G>T (p.Val87Leu) rs766985003
NM_015665.6(AAAS):c.301G>T (p.Glu101Ter)
NM_015665.6(AAAS):c.327G>A (p.Thr109=) rs190876509
NM_015665.6(AAAS):c.399+1G>A rs2136811976
NM_015665.6(AAAS):c.400-2A>G rs1565781382
NM_015665.6(AAAS):c.649A>G (p.Ile217Val)
NM_015665.6(AAAS):c.65A>G (p.Asn22Ser) rs774899476
NM_015665.6(AAAS):c.688C>T (p.Arg230Ter) rs758057774
NM_015665.6(AAAS):c.762del (p.Ser255fs) rs746057093
NM_015665.6(AAAS):c.781_782del (p.Ala262fs) rs2121089586
NM_015665.6(AAAS):c.810+1G>A
NM_015665.6(AAAS):c.852G>A (p.Trp284Ter) rs1944347921
NM_015665.6(AAAS):c.887C>A (p.Ser296Tyr) rs1450008394
NM_015665.6(AAAS):c.899G>T (p.Ser300Ile)
NM_015665.6(AAAS):c.901A>T (p.Lys301Ter) rs774817639
NM_015665.6(AAAS):c.912T>G (p.Ala304=) rs138749872
NM_015665.6(AAAS):c.936-2A>G rs1565777639
NM_015665.6(AAAS):c.936-5C>T rs1944343648
NM_015665.6(AAAS):c.980dup (p.Ser328fs) rs387906326

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