ClinVar Miner

List of variants in gene ASXL3 reported as uncertain significance by GeneDx

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Total variants: 123
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HGVS dbSNP gnomAD frequency
NM_030632.3(ASXL3):c.3092C>T (p.Ser1031Phe) rs375247575 0.00004
NM_030632.3(ASXL3):c.6123_6131dup (p.Pro2044_Leu2045insProProPro) rs2067781358 0.00003
NM_030632.3(ASXL3):c.2152C>T (p.Pro718Ser) rs905872208 0.00002
NM_030632.3(ASXL3):c.1589T>C (p.Met530Thr) rs766195581 0.00001
NM_030632.3(ASXL3):c.1716A>G (p.Ile572Met) rs1334155381 0.00001
NM_030632.3(ASXL3):c.2153C>T (p.Pro718Leu) rs770319315 0.00001
NM_030632.3(ASXL3):c.4540G>A (p.Val1514Met) rs763251902 0.00001
NM_030632.3(ASXL3):c.4591G>A (p.Glu1531Lys) rs866215181 0.00001
NM_030632.3(ASXL3):c.4660G>A (p.Ala1554Thr) rs377458064 0.00001
NM_030632.3(ASXL3):c.5102G>C (p.Ser1701Thr) rs958071901 0.00001
NM_030632.3(ASXL3):c.5149G>A (p.Glu1717Lys) rs1269816177 0.00001
NM_030632.3(ASXL3):c.5353A>T (p.Thr1785Ser) rs1211678675 0.00001
NM_030632.3(ASXL3):c.5851T>C (p.Ser1951Pro) rs1414083031 0.00001
NM_030632.3(ASXL3):c.6380T>C (p.Leu2127Pro) rs2067789711 0.00001
NM_030632.3(ASXL3):c.6548A>G (p.Asn2183Ser) rs2145436776 0.00001
NM_030632.3(ASXL3):c.6709C>T (p.Pro2237Ser) rs371155785 0.00001
NM_030632.3(ASXL3):c.875G>A (p.Arg292Lys) rs1411906940 0.00001
NM_030632.3(ASXL3):c.911C>A (p.Thr304Asn) rs1225332574 0.00001
NM_030632.3(ASXL3):c.100T>A (p.Leu34Met)
NM_030632.3(ASXL3):c.1090A>G (p.Met364Val) rs2510915518
NM_030632.3(ASXL3):c.1245G>C (p.Glu415Asp) rs369775948
NM_030632.3(ASXL3):c.1339G>A (p.Glu447Lys)
NM_030632.3(ASXL3):c.1413G>T (p.Lys471Asn)
NM_030632.3(ASXL3):c.1418T>A (p.Ile473Lys) rs375833448
NM_030632.3(ASXL3):c.1568C>T (p.Ser523Leu) rs1433986652
NM_030632.3(ASXL3):c.1597G>C (p.Val533Leu)
NM_030632.3(ASXL3):c.1597G>T (p.Val533Phe) rs2145412985
NM_030632.3(ASXL3):c.1828G>A (p.Glu610Lys) rs2145413782
NM_030632.3(ASXL3):c.1903A>C (p.Thr635Pro) rs2510918039
NM_030632.3(ASXL3):c.1939ACA[1] (p.Thr648del) rs2510918209
NM_030632.3(ASXL3):c.1980C>G (p.Asp660Glu)
NM_030632.3(ASXL3):c.2068T>C (p.Ser690Pro) rs2067615631
NM_030632.3(ASXL3):c.2173A>G (p.Thr725Ala) rs2510918901
NM_030632.3(ASXL3):c.2234G>C (p.Ser745Thr) rs2510919085
NM_030632.3(ASXL3):c.2267C>T (p.Ser756Phe) rs2510919175
NM_030632.3(ASXL3):c.2270A>C (p.Asn757Thr)
NM_030632.3(ASXL3):c.2310G>C (p.Lys770Asn)
NM_030632.3(ASXL3):c.2339C>A (p.Ser780Tyr)
NM_030632.3(ASXL3):c.2488A>G (p.Asn830Asp)
NM_030632.3(ASXL3):c.2573C>G (p.Thr858Ser)
NM_030632.3(ASXL3):c.2612G>A (p.Arg871Lys) rs1229293979
NM_030632.3(ASXL3):c.2674A>G (p.Asn892Asp)
NM_030632.3(ASXL3):c.2723T>A (p.Ile908Asn) rs2067634452
NM_030632.3(ASXL3):c.2830G>A (p.Glu944Lys)
NM_030632.3(ASXL3):c.2884_2886del (p.Ser962del) rs1555742940
NM_030632.3(ASXL3):c.2896A>T (p.Thr966Ser) rs2510920946
NM_030632.3(ASXL3):c.2947G>A (p.Glu983Lys)
NM_030632.3(ASXL3):c.3007C>A (p.Pro1003Thr)
NM_030632.3(ASXL3):c.3007C>T (p.Pro1003Ser)
NM_030632.3(ASXL3):c.3011G>T (p.Arg1004Ile) rs768589891
NM_030632.3(ASXL3):c.3039+5G>A rs2145417740
NM_030632.3(ASXL3):c.3095A>G (p.Lys1032Arg) rs748162166
NM_030632.3(ASXL3):c.3116C>T (p.Thr1039Ile)
NM_030632.3(ASXL3):c.3155G>C (p.Arg1052Thr)
NM_030632.3(ASXL3):c.3170T>C (p.Ile1057Thr)
NM_030632.3(ASXL3):c.3325A>G (p.Lys1109Glu) rs2510924880
NM_030632.3(ASXL3):c.332A>C (p.Asn111Thr) rs2145202045
NM_030632.3(ASXL3):c.3368C>T (p.Thr1123Ile)
NM_030632.3(ASXL3):c.3413G>A (p.Gly1138Glu) rs1457828020
NM_030632.3(ASXL3):c.3424T>A (p.Leu1142Ile)
NM_030632.3(ASXL3):c.3503C>T (p.Pro1168Leu)
NM_030632.3(ASXL3):c.3514T>A (p.Ser1172Thr) rs2145424637
NM_030632.3(ASXL3):c.35G>C (p.Trp12Ser)
NM_030632.3(ASXL3):c.3688C>T (p.Leu1230Phe) rs2145425277
NM_030632.3(ASXL3):c.3712G>C (p.Val1238Leu) rs1336769342
NM_030632.3(ASXL3):c.3722G>C (p.Cys1241Ser) rs2145425373
NM_030632.3(ASXL3):c.3763G>A (p.Val1255Met) rs762727035
NM_030632.3(ASXL3):c.380A>G (p.Glu127Gly) rs2510921118
NM_030632.3(ASXL3):c.3851C>T (p.Thr1284Ile) rs769416656
NM_030632.3(ASXL3):c.4044C>G (p.Asn1348Lys)
NM_030632.3(ASXL3):c.4093A>G (p.Ile1365Val)
NM_030632.3(ASXL3):c.4232C>T (p.Pro1411Leu) rs767761454
NM_030632.3(ASXL3):c.4282A>T (p.Ser1428Cys)
NM_030632.3(ASXL3):c.4367C>T (p.Pro1456Leu) rs2145428035
NM_030632.3(ASXL3):c.4450A>C (p.Ser1484Arg) rs2067726975
NM_030632.3(ASXL3):c.4559C>T (p.Ser1520Phe) rs376171848
NM_030632.3(ASXL3):c.4580C>T (p.Pro1527Leu) rs2067730286
NM_030632.3(ASXL3):c.4586C>T (p.Ala1529Val) rs1216008585
NM_030632.3(ASXL3):c.4594G>A (p.Gly1532Ser) rs2510928954
NM_030632.3(ASXL3):c.4609T>A (p.Ser1537Thr)
NM_030632.3(ASXL3):c.4610C>A (p.Ser1537Tyr)
NM_030632.3(ASXL3):c.4915C>G (p.Pro1639Ala)
NM_030632.3(ASXL3):c.4940C>G (p.Ala1647Gly)
NM_030632.3(ASXL3):c.4943A>C (p.Asn1648Thr) rs2510930037
NM_030632.3(ASXL3):c.5141G>T (p.Ser1714Ile)
NM_030632.3(ASXL3):c.5234C>T (p.Ala1745Val)
NM_030632.3(ASXL3):c.5256G>T (p.Gln1752His)
NM_030632.3(ASXL3):c.5270A>G (p.Asn1757Ser) rs2067755159
NM_030632.3(ASXL3):c.5293C>G (p.Pro1765Ala) rs976295799
NM_030632.3(ASXL3):c.5299C>T (p.Pro1767Ser) rs2510931346
NM_030632.3(ASXL3):c.5321A>C (p.Glu1774Ala) rs2145431727
NM_030632.3(ASXL3):c.542G>A (p.Arg181His)
NM_030632.3(ASXL3):c.5433G>C (p.Leu1811Phe) rs2145432145
NM_030632.3(ASXL3):c.5561T>C (p.Val1854Ala) rs2145432606
NM_030632.3(ASXL3):c.5563A>G (p.Lys1855Glu)
NM_030632.3(ASXL3):c.5576G>A (p.Cys1859Tyr)
NM_030632.3(ASXL3):c.5645A>G (p.His1882Arg)
NM_030632.3(ASXL3):c.567G>A (p.Val189=) rs1382203896
NM_030632.3(ASXL3):c.5975C>T (p.Pro1992Leu) rs2067773123
NM_030632.3(ASXL3):c.6110dup (p.Pro2038fs) rs747712363
NM_030632.3(ASXL3):c.6137C>G (p.Pro2046Arg)
NM_030632.3(ASXL3):c.6147A>T (p.Glu2049Asp) rs2510934081
NM_030632.3(ASXL3):c.6197G>T (p.Arg2066Ile)
NM_030632.3(ASXL3):c.6199C>T (p.Leu2067Phe)
NM_030632.3(ASXL3):c.6205T>C (p.Trp2069Arg) rs776137720
NM_030632.3(ASXL3):c.6315G>C (p.Gln2105His)
NM_030632.3(ASXL3):c.6355_6356del (p.Ser2119fs)
NM_030632.3(ASXL3):c.6373T>C (p.Tyr2125His)
NM_030632.3(ASXL3):c.6379C>T (p.Leu2127Phe) rs2067789662
NM_030632.3(ASXL3):c.6469A>G (p.Ile2157Val) rs2510934951
NM_030632.3(ASXL3):c.6512T>C (p.Ile2171Thr) rs746016958
NM_030632.3(ASXL3):c.6512_6517del (p.Ile2171_Glu2172del) rs2510935048
NM_030632.3(ASXL3):c.6553G>A (p.Ala2185Thr) rs2510935137
NM_030632.3(ASXL3):c.656A>C (p.Lys219Thr) rs2510931435
NM_030632.3(ASXL3):c.6608G>T (p.Ser2203Ile)
NM_030632.3(ASXL3):c.6691C>T (p.His2231Tyr)
NM_030632.3(ASXL3):c.6722G>A (p.Cys2241Tyr)
NM_030632.3(ASXL3):c.6731G>A (p.Cys2244Tyr)
NM_030632.3(ASXL3):c.675A>G (p.Gln225=) rs2510931500
NM_030632.3(ASXL3):c.715+5G>A rs2145256753
NM_030632.3(ASXL3):c.879G>A (p.Gln293=) rs2145285867
NM_030632.3(ASXL3):c.933C>A (p.Phe311Leu) rs2510907529
NM_030632.3(ASXL3):c.964C>T (p.Arg322Ter)

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