ClinVar Miner

List of variants reported as uncertain significance for anemia due to erythrocyte enzyme disorder by Invitae

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 281
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693 0.00154
NM_000289.6(PFKM):c.1727A>T (p.Tyr576Phe) rs370424471 0.00048
NM_001243177.4(ALDOA):c.679C>T (p.Arg227Cys) rs374042346 0.00025
NM_000289.6(PFKM):c.2201A>G (p.His734Arg) rs141570669 0.00022
NM_000289.6(PFKM):c.820A>G (p.Ile274Val) rs142868881 0.00021
NM_000289.6(PFKM):c.52A>G (p.Ile18Val) rs150405056 0.00020
NM_001243177.4(ALDOA):c.898C>T (p.His300Tyr) rs144693278 0.00016
NM_001360016.2(G6PD):c.1152G>C (p.Gln384His) rs368832453 0.00016
NM_000289.6(PFKM):c.139C>T (p.Arg47Cys) rs774921979 0.00012
NM_000289.6(PFKM):c.1925A>G (p.Asn642Ser) rs141550921 0.00011
NM_001360016.2(G6PD):c.244A>C (p.Lys82Gln) rs782065240 0.00009
NM_000289.6(PFKM):c.1992+5G>A rs180864041 0.00008
NM_000402.4(G6PD):c.770G>A (p.Arg257Gln) rs137852328 0.00008
NM_001360016.2(G6PD):c.1287+3G>C rs782786750 0.00008
NM_001243177.4(ALDOA):c.223C>T (p.His75Tyr) rs766734350 0.00007
NM_001243177.4(ALDOA):c.926C>T (p.Thr309Ile) rs368207656 0.00007
NM_000289.6(PFKM):c.1060G>A (p.Val354Met) rs930337550 0.00006
NM_000289.6(PFKM):c.2308A>G (p.Ile770Val) rs950246136 0.00006
NM_000289.6(PFKM):c.857G>A (p.Arg286His) rs768496070 0.00006
NM_001243177.4(ALDOA):c.382A>C (p.Ile128Leu) rs747788394 0.00006
NM_001360016.2(G6PD):c.1021G>A (p.Val341Ile) rs782174983 0.00006
NM_000289.6(PFKM):c.722A>G (p.Glu241Gly) rs148544344 0.00005
NM_001243177.4(ALDOA):c.375C>G (p.Asn125Lys) rs146976414 0.00005
NM_001360016.2(G6PD):c.1493G>C (p.Arg498Thr) rs782422580 0.00005
NM_001360016.2(G6PD):c.337G>A (p.Asp113Asn) rs5030870 0.00005
NM_001360016.2(G6PD):c.697G>A (p.Val233Ile) rs781948754 0.00005
NM_000289.6(PFKM):c.59T>C (p.Val20Ala) rs755992543 0.00004
NM_001243177.4(ALDOA):c.764G>A (p.Arg255His) rs534264493 0.00004
NM_001243177.4(ALDOA):c.929C>T (p.Ala310Val) rs201658390 0.00004
NM_000289.6(PFKM):c.1303G>A (p.Val435Ile) rs774425888 0.00003
NM_000289.6(PFKM):c.500A>G (p.Asn167Ser) rs143485300 0.00003
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) rs137852342 0.00003
NM_001243177.4(ALDOA):c.1129G>T (p.Ala377Ser) rs148828956 0.00003
NM_001243177.4(ALDOA):c.226C>T (p.Arg76Cys) rs145582724 0.00003
NM_001360016.2(G6PD):c.864+5G>A rs372876649 0.00003
NM_000289.6(PFKM):c.1115A>G (p.Lys372Arg) rs375592512 0.00002
NM_000289.6(PFKM):c.1191+6G>T rs779486374 0.00002
NM_000289.6(PFKM):c.140G>A (p.Arg47His) rs748718049 0.00002
NM_000289.6(PFKM):c.1628A>C (p.Asp543Ala) rs121918194 0.00002
NM_000289.6(PFKM):c.1663C>T (p.Arg555Cys) rs763839998 0.00002
NM_000289.6(PFKM):c.262C>T (p.Arg88Trp) rs757746489 0.00002
NM_000289.6(PFKM):c.514A>G (p.Thr172Ala) rs139800248 0.00002
NM_001243177.4(ALDOA):c.475G>T (p.Val159Leu) rs570385246 0.00002
NM_001243177.4(ALDOA):c.807G>T (p.Lys269Asn) rs1455309434 0.00002
NM_001360016.2(G6PD):c.220C>T (p.Arg74Cys) rs781848254 0.00002
NM_001360016.2(G6PD):c.754G>A (p.Glu252Lys) rs782216807 0.00002
NM_000289.6(PFKM):c.1109C>G (p.Ala370Gly) rs531875148 0.00001
NM_000289.6(PFKM):c.1412+6T>C rs1417385697 0.00001
NM_000289.6(PFKM):c.1540C>A (p.Gln514Lys) rs1487607332 0.00001
NM_000289.6(PFKM):c.2096G>A (p.Arg699Gln) rs770276917 0.00001
NM_000289.6(PFKM):c.2338G>A (p.Val780Ile) rs537327893 0.00001
NM_000289.6(PFKM):c.289G>A (p.Gly97Arg) rs768553877 0.00001
NM_000289.6(PFKM):c.320A>G (p.Lys107Arg) rs763214745 0.00001
NM_000289.6(PFKM):c.634T>C (p.Cys212Arg) rs755956424 0.00001
NM_000289.6(PFKM):c.800T>C (p.Ile267Thr) rs748720104 0.00001
NM_000289.6(PFKM):c.935T>C (p.Leu312Pro) rs1251670627 0.00001
NM_001243177.4(ALDOA):c.1069G>A (p.Gly357Ser) rs746068220 0.00001
NM_001243177.4(ALDOA):c.217A>G (p.Ile73Val) rs929389001 0.00001
NM_001243177.4(ALDOA):c.322G>A (p.Glu108Lys) rs199852002 0.00001
NM_001243177.4(ALDOA):c.436C>T (p.Arg146Cys) rs776187312 0.00001
NM_001243177.4(ALDOA):c.520A>G (p.Asn174Asp) rs775705038 0.00001
NM_001243177.4(ALDOA):c.563G>A (p.Arg188His) rs778814633 0.00001
NM_001243177.4(ALDOA):c.572A>T (p.Gln191Leu) rs1283845684 0.00001
NM_001243177.4(ALDOA):c.644C>T (p.Ala215Val) rs1463243958 0.00001
NM_001243177.4(ALDOA):c.821A>G (p.His274Arg) rs760807537 0.00001
NM_001243177.4(ALDOA):c.937C>T (p.Arg313Cys) rs779421883 0.00001
NM_001360016.2(G6PD):c.242G>A (p.Arg81His) rs782308266 0.00001
NM_001360016.2(G6PD):c.251G>A (p.Ser84Asn) rs141830127 0.00001
NM_001360016.2(G6PD):c.574C>T (p.Arg192Cys) rs1557230370 0.00001
NM_001360016.2(G6PD):c.660C>G (p.Ile220Met) rs782771682 0.00001
NM_001360016.2(G6PD):c.775G>A (p.Val259Met) rs782690505 0.00001
NM_001360016.2(G6PD):c.973G>A (p.Asp325Asn) rs781906610 0.00001
NM_001365304.2(LOC112694756):c.*621+5G>A rs774939475 0.00001
G6PD NARA rs587776730
NC_000016.9:g.(?_29802081)_(30199917_?)del
NC_000016.9:g.(?_29802081)_(30199917_?)dup
NC_000016.9:g.(?_30066083)_(30081533_?)dup
NC_000023.10:g.(?_153640181)_(153775961_?)dup
NC_000023.10:g.(?_153760215)_(153764413_?)dup
NC_000023.10:g.(?_153760215)_(153775961_?)dup
NC_000023.10:g.(?_153762230)_(153775961_?)dup
NM_000289.6(PFKM):c.1028C>A (p.Ala343Asp)
NM_000289.6(PFKM):c.1034G>A (p.Arg345His)
NM_000289.6(PFKM):c.1043T>C (p.Leu348Pro) rs1203659685
NM_000289.6(PFKM):c.1060G>T (p.Val354Leu)
NM_000289.6(PFKM):c.1064C>A (p.Thr355Asn)
NM_000289.6(PFKM):c.1114A>G (p.Lys372Glu) rs1950380994
NM_000289.6(PFKM):c.1127+6G>T
NM_000289.6(PFKM):c.1177C>T (p.Pro393Ser)
NM_000289.6(PFKM):c.1191+12T>G rs2135983216
NM_000289.6(PFKM):c.1191+3A>G
NM_000289.6(PFKM):c.1193G>A (p.Ser398Asn)
NM_000289.6(PFKM):c.1199C>T (p.Ser400Leu)
NM_000289.6(PFKM):c.1208T>C (p.Val403Ala)
NM_000289.6(PFKM):c.1226G>T (p.Gly409Val)
NM_000289.6(PFKM):c.133G>A (p.Gly45Ser)
NM_000289.6(PFKM):c.1342-15G>A
NM_000289.6(PFKM):c.1439A>G (p.Gln480Arg)
NM_000289.6(PFKM):c.1441A>T (p.Ile481Phe)
NM_000289.6(PFKM):c.1451A>G (p.Asn484Ser)
NM_000289.6(PFKM):c.1453A>G (p.Ile485Val)
NM_000289.6(PFKM):c.1487T>C (p.Ile496Thr)
NM_000289.6(PFKM):c.1514G>T (p.Gly505Val) rs774891977
NM_000289.6(PFKM):c.1565T>C (p.Phe522Ser)
NM_000289.6(PFKM):c.160-13A>G
NM_000289.6(PFKM):c.1618G>A (p.Val540Ile)
NM_000289.6(PFKM):c.1742C>T (p.Ala581Val)
NM_000289.6(PFKM):c.1771G>A (p.Asp591Asn)
NM_000289.6(PFKM):c.1808G>A (p.Arg603Gln)
NM_000289.6(PFKM):c.1826T>C (p.Val609Ala)
NM_000289.6(PFKM):c.1880+3A>G
NM_000289.6(PFKM):c.1880+5C>G
NM_000289.6(PFKM):c.189T>G (p.Asp63Glu)
NM_000289.6(PFKM):c.1918A>G (p.Ile640Val)
NM_000289.6(PFKM):c.1925A>C (p.Asn642Thr)
NM_000289.6(PFKM):c.2039G>A (p.Gly680Asp)
NM_000289.6(PFKM):c.2041G>A (p.Ala681Thr)
NM_000289.6(PFKM):c.2053A>G (p.Asn685Asp)
NM_000289.6(PFKM):c.2077G>C (p.Glu693Gln)
NM_000289.6(PFKM):c.2086C>T (p.Arg696Cys)
NM_000289.6(PFKM):c.2100C>G (p.Ile700Met) rs2136051089
NM_000289.6(PFKM):c.213G>T (p.Glu71Asp)
NM_000289.6(PFKM):c.2161C>G (p.Gln721Glu)
NM_000289.6(PFKM):c.2173G>A (p.Glu725Lys) rs1176082291
NM_000289.6(PFKM):c.2234dup (p.Arg746fs)
NM_000289.6(PFKM):c.2253C>G (p.Ile751Met)
NM_000289.6(PFKM):c.2266G>A (p.Glu756Lys)
NM_000289.6(PFKM):c.2282C>G (p.Thr761Ser) rs1592832922
NM_000289.6(PFKM):c.2287G>A (p.Asp763Asn)
NM_000289.6(PFKM):c.2312C>T (p.Thr771Ile)
NM_000289.6(PFKM):c.2315G>A (p.Arg772Gln)
NM_000289.6(PFKM):c.2326G>A (p.Gly776Arg)
NM_000289.6(PFKM):c.2327G>A (p.Gly776Glu)
NM_000289.6(PFKM):c.237+5_237+6insCTGAATATG
NM_000289.6(PFKM):c.293G>A (p.Arg98Gln)
NM_000289.6(PFKM):c.321G>C (p.Lys107Asn)
NM_000289.6(PFKM):c.335A>G (p.Asn112Ser) rs1592727517
NM_000289.6(PFKM):c.374C>A (p.Ala125Asp)
NM_000289.6(PFKM):c.385C>T (p.Arg129Cys)
NM_000289.6(PFKM):c.38G>A (p.Gly13Glu)
NM_000289.6(PFKM):c.427G>A (p.Gly143Ser)
NM_000289.6(PFKM):c.431A>C (p.Lys144Thr)
NM_000289.6(PFKM):c.512G>T (p.Gly171Val)
NM_000289.6(PFKM):c.551G>A (p.Arg184Gln)
NM_000289.6(PFKM):c.628C>T (p.Arg210Cys)
NM_000289.6(PFKM):c.638+4A>G
NM_000289.6(PFKM):c.712G>A (p.Asp238Asn)
NM_000289.6(PFKM):c.757C>T (p.Arg253Cys)
NM_000289.6(PFKM):c.766C>T (p.Arg256Cys)
NM_000289.6(PFKM):c.799A>G (p.Ile267Val)
NM_000289.6(PFKM):c.856C>T (p.Arg286Cys)
NM_000289.6(PFKM):c.857G>T (p.Arg286Leu)
NM_000289.6(PFKM):c.86G>A (p.Gly29Asp)
NM_000289.6(PFKM):c.872C>G (p.Thr291Ser)
NM_000289.6(PFKM):c.874C>T (p.Arg292Trp)
NM_000289.6(PFKM):c.883G>A (p.Val295Ile)
NM_000289.6(PFKM):c.926A>T (p.Asp309Val)
NM_000289.6(PFKM):c.995C>T (p.Pro332Leu)
NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu) rs137852320
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) rs137852337
NM_001099857.5(IKBKG):c.-16+1G>T rs2148357351
NM_001243177.4(ALDOA):c.1033C>A (p.Pro345Thr)
NM_001243177.4(ALDOA):c.1124T>C (p.Leu375Pro)
NM_001243177.4(ALDOA):c.1141G>A (p.Glu381Lys)
NM_001243177.4(ALDOA):c.1154G>A (p.Arg385Gln)
NM_001243177.4(ALDOA):c.1169G>C (p.Ser390Thr)
NM_001243177.4(ALDOA):c.1186A>G (p.Lys396Glu)
NM_001243177.4(ALDOA):c.1208C>G (p.Ala403Gly) rs1261199026
NM_001243177.4(ALDOA):c.1250C>T (p.Ala417Val)
NM_001243177.4(ALDOA):c.174A>G (p.Gln58=) rs2072147536
NM_001243177.4(ALDOA):c.181G>A (p.Ala61Thr)
NM_001243177.4(ALDOA):c.220G>A (p.Ala74Thr)
NM_001243177.4(ALDOA):c.239C>T (p.Pro80Leu)
NM_001243177.4(ALDOA):c.273T>G (p.Thr91=) rs2151015694
NM_001243177.4(ALDOA):c.289C>T (p.Arg97Trp)
NM_001243177.4(ALDOA):c.290G>A (p.Arg97Gln) rs549146709
NM_001243177.4(ALDOA):c.290G>C (p.Arg97Pro)
NM_001243177.4(ALDOA):c.299C>T (p.Ser100Phe)
NM_001243177.4(ALDOA):c.302T>C (p.Ile101Thr)
NM_001243177.4(ALDOA):c.316A>G (p.Thr106Ala)
NM_001243177.4(ALDOA):c.317C>T (p.Thr106Ile)
NM_001243177.4(ALDOA):c.330_331delinsCT (p.Arg111Cys)
NM_001243177.4(ALDOA):c.357_359del (p.Ala120del)
NM_001243177.4(ALDOA):c.368G>A (p.Arg123His)
NM_001243177.4(ALDOA):c.400T>C (p.Phe134Leu) rs2151016133
NM_001243177.4(ALDOA):c.425C>T (p.Ala142Val)
NM_001243177.4(ALDOA):c.466G>T (p.Gly156Cys)
NM_001243177.4(ALDOA):c.469G>A (p.Gly157Ser)
NM_001243177.4(ALDOA):c.472G>A (p.Val158Ile) rs2072169825
NM_001243177.4(ALDOA):c.499G>A (p.Val167Met)
NM_001243177.4(ALDOA):c.505C>T (p.Pro169Ser)
NM_001243177.4(ALDOA):c.515G>A (p.Gly172Glu)
NM_001243177.4(ALDOA):c.524G>A (p.Gly175Asp)
NM_001243177.4(ALDOA):c.562C>T (p.Arg188Cys)
NM_001243177.4(ALDOA):c.590C>A (p.Ala197Asp)
NM_001243177.4(ALDOA):c.613G>T (p.Val205Leu)
NM_001243177.4(ALDOA):c.649G>A (p.Ala217Thr)
NM_001243177.4(ALDOA):c.698A>T (p.Gln233Leu) rs2151018036
NM_001243177.4(ALDOA):c.721G>A (p.Val241Met)
NM_001243177.4(ALDOA):c.733A>G (p.Ile245Val)
NM_001243177.4(ALDOA):c.763C>T (p.Arg255Cys)
NM_001243177.4(ALDOA):c.797C>T (p.Ala266Val)
NM_001243177.4(ALDOA):c.799G>C (p.Val267Leu)
NM_001243177.4(ALDOA):c.803A>G (p.Tyr268Cys)
NM_001243177.4(ALDOA):c.861G>A (p.Met287Ile)
NM_001243177.4(ALDOA):c.876T>G (p.His292Gln)
NM_001243177.4(ALDOA):c.884C>T (p.Thr295Ile)
NM_001243177.4(ALDOA):c.922G>C (p.Val308Leu)
NM_001243177.4(ALDOA):c.934C>T (p.Arg312Cys)
NM_001243177.4(ALDOA):c.935G>A (p.Arg312His)
NM_001243177.4(ALDOA):c.951del (p.Ala318fs)
NM_001360016.2(G6PD):c.1016C>T (p.Ala339Val)
NM_001360016.2(G6PD):c.1072T>G (p.Cys358Gly)
NM_001360016.2(G6PD):c.1104G>C (p.Glu368Asp) rs1421656710
NM_001360016.2(G6PD):c.1132G>A (p.Gly378Ser)
NM_001360016.2(G6PD):c.1146C>G (p.His382Gln)
NM_001360016.2(G6PD):c.1187C>T (p.Pro396Leu) rs1557229683
NM_001360016.2(G6PD):c.1243C>T (p.Pro415Ser) rs1603411292
NM_001360016.2(G6PD):c.1277A>G (p.Asn426Ser)
NM_001360016.2(G6PD):c.1278C>G (p.Asn426Lys) rs1557229652
NM_001360016.2(G6PD):c.1365C>T (p.Ser455=)
NM_001360016.2(G6PD):c.1396A>G (p.Thr466Ala)
NM_001360016.2(G6PD):c.1412A>C (p.Gln471Pro)
NM_001360016.2(G6PD):c.1420C>G (p.Leu474Val) rs2148328385
NM_001360016.2(G6PD):c.1441C>T (p.Pro481Ser)
NM_001360016.2(G6PD):c.1457+37_1458-10dup
NM_001360016.2(G6PD):c.1496T>A (p.Val499Glu)
NM_001360016.2(G6PD):c.1517C>G (p.Thr506Ser)
NM_001360016.2(G6PD):c.152C>T (p.Thr51Ile) rs2148332084
NM_001360016.2(G6PD):c.159-3C>T
NM_001360016.2(G6PD):c.169C>T (p.Arg57Trp)
NM_001360016.2(G6PD):c.193A>G (p.Thr65Ala) rs199474830
NM_001360016.2(G6PD):c.196T>A (p.Phe66Ile) rs2070404146
NM_001360016.2(G6PD):c.221G>A (p.Arg74His)
NM_001360016.2(G6PD):c.227C>T (p.Thr76Ile) rs2148331887
NM_001360016.2(G6PD):c.255G>A (p.Glu85=)
NM_001360016.2(G6PD):c.261C>T (p.Phe87=)
NM_001360016.2(G6PD):c.26G>A (p.Arg9Gln)
NM_001360016.2(G6PD):c.277G>A (p.Glu93Lys)
NM_001360016.2(G6PD):c.310C>T (p.Arg104Cys)
NM_001360016.2(G6PD):c.314A>C (p.Asn105Thr)
NM_001360016.2(G6PD):c.317C>T (p.Ser106Phe)
NM_001360016.2(G6PD):c.332A>G (p.Gln111Arg)
NM_001360016.2(G6PD):c.346G>C (p.Ala116Pro)
NM_001360016.2(G6PD):c.347C>T (p.Ala116Val)
NM_001360016.2(G6PD):c.34G>A (p.Val12Met)
NM_001360016.2(G6PD):c.359G>T (p.Arg120Leu) rs782820967
NM_001360016.2(G6PD):c.41G>T (p.Gly14Val)
NM_001360016.2(G6PD):c.424T>G (p.Leu142Val)
NM_001360016.2(G6PD):c.433A>T (p.Thr145Ser)
NM_001360016.2(G6PD):c.445G>A (p.Ala149Thr)
NM_001360016.2(G6PD):c.485+3A>G
NM_001360016.2(G6PD):c.486-10C>T
NM_001360016.2(G6PD):c.505G>A (p.Val169Met)
NM_001360016.2(G6PD):c.545G>A (p.Arg182Gln)
NM_001360016.2(G6PD):c.554A>G (p.Asn185Ser)
NM_001360016.2(G6PD):c.559A>G (p.Ile187Val)
NM_001360016.2(G6PD):c.575G>A (p.Arg192His)
NM_001360016.2(G6PD):c.584A>G (p.Gln195Arg)
NM_001360016.2(G6PD):c.644+6G>A
NM_001360016.2(G6PD):c.645-3C>T
NM_001360016.2(G6PD):c.72T>A (p.Asp24Glu) rs1557233192
NM_001360016.2(G6PD):c.73G>A (p.Ala25Thr)
NM_001360016.2(G6PD):c.73G>T (p.Ala25Ser)
NM_001360016.2(G6PD):c.769C>G (p.Arg257Gly) rs2070375134
NM_001360016.2(G6PD):c.77T>C (p.Phe26Ser)
NM_001360016.2(G6PD):c.79C>T (p.His27Tyr)
NM_001360016.2(G6PD):c.829G>T (p.Ala277Ser) rs1557230050
NM_001360016.2(G6PD):c.84G>T (p.Gln28His)
NM_001360016.2(G6PD):c.859G>A (p.Glu287Lys) rs387906471
NM_001360016.2(G6PD):c.88G>A (p.Asp30Asn)
NM_001360016.2(G6PD):c.937G>A (p.Asp313Asn)
NM_001360016.2(G6PD):c.945G>C (p.Glu315Asp) rs2148329357
NM_001360016.2(G6PD):c.947G>A (p.Gly316Asp)
NM_001360016.2(G6PD):c.971A>G (p.Asp324Gly)
NM_001360016.2(G6PD):c.989G>A (p.Arg330His)
NM_001365304.2(LOC112694756):c.*1049+3G>A rs2072219927
NM_001365304.2(LOC112694756):c.*1309-2dup
NM_001365304.2(LOC112694756):c.*622-9C>G
NM_001365304.2(LOC112694756):c.*889-3T>C

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