ClinVar Miner

List of variants in gene G6PD reported as uncertain significance

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Total variants: 203
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693 0.00154
NM_001360016.2(G6PD):c.1048G>C (p.Asp350His) rs34193178 0.00110
NM_001360016.2(G6PD):c.*520G>A rs782764609 0.00104
NM_001360016.2(G6PD):c.1458-13C>G rs371772243 0.00093
NM_001360016.2(G6PD):c.582C>G (p.Asp194Glu) rs145247580 0.00063
NM_001360016.2(G6PD):c.1245C>T (p.Pro415=) rs147131392 0.00062
NM_001360016.2(G6PD):c.*75C>T rs938857639 0.00047
NM_001360016.2(G6PD):c.*281C>T rs975719422 0.00038
NM_001360016.2(G6PD):c.*50G>A rs201294737 0.00033
NM_001360016.2(G6PD):c.*548C>T rs181015082 0.00030
NM_001360016.2(G6PD):c.486-14C>T rs200833520 0.00020
NM_001360016.2(G6PD):c.864+17A>T rs377041776 0.00019
NM_001360016.2(G6PD):c.*365G>A rs1034742794 0.00017
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys) rs137852313 0.00016
NM_001360016.2(G6PD):c.1152G>C (p.Gln384His) rs368832453 0.00016
NM_001360016.2(G6PD):c.1240A>C (p.Asn414His) rs201794043 0.00013
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) rs72554664 0.00012
NM_001360016.2(G6PD):c.*25C>T rs781866772 0.00009
NM_001360016.2(G6PD):c.244A>C (p.Lys82Gln) rs782065240 0.00009
NM_000402.4(G6PD):c.770G>A (p.Arg257Gln) rs137852328 0.00008
NM_001360016.2(G6PD):c.1051+16G>A rs782637386 0.00008
NM_001360016.2(G6PD):c.1287+3G>C rs782786750 0.00008
NM_001360016.2(G6PD):c.1021G>A (p.Val341Ile) rs782174983 0.00006
NM_001360016.2(G6PD):c.*47G>A rs398123543 0.00005
NM_001360016.2(G6PD):c.121-46G>A rs398123545 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_001360016.2(G6PD):c.865-16C>T rs199970830 0.00005
NM_001360016.2(G6PD):c.1329C>T (p.Asp443=) rs138919671 0.00004
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869 0.00003
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) rs137852342 0.00003
NM_001360016.2(G6PD):c.*599C>T rs921086000 0.00003
NM_001360016.2(G6PD):c.158+13C>T rs990745079 0.00003
NM_001360016.2(G6PD):c.864+14C>T rs782416820 0.00003
NM_001360016.2(G6PD):c.864+5G>A rs372876649 0.00003
NM_001360016.2(G6PD):c.*466C>G rs1239325414 0.00002
NM_001360016.2(G6PD):c.1101C>T (p.Ala367=) rs1256250108 0.00002
NM_001360016.2(G6PD):c.1164C>T (p.Asn388=) rs782623392 0.00002
NM_001360016.2(G6PD):c.1480G>A (p.Glu494Lys) rs1377337822 0.00002
NM_001360016.2(G6PD):c.220C>T (p.Arg74Cys) rs781848254 0.00002
NM_001360016.2(G6PD):c.477G>C (p.Met159Ile) rs370918918 0.00002
NM_001360016.2(G6PD):c.703C>T (p.Leu235Phe) rs782757170 0.00002
NM_001360016.2(G6PD):c.750C>T (p.Phe250=) rs140496395 0.00002
NM_001360016.2(G6PD):c.754G>A (p.Glu252Lys) rs782216807 0.00002
NM_001360016.2(G6PD):c.771-11T>C rs782622284 0.00002
NM_001360016.2(G6PD):c.*535G>T rs1057515820 0.00001
NM_001360016.2(G6PD):c.1457+34A>G rs398123548 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.337G>T (p.Asp113Tyr) rs5030870 0.00001
NM_001360016.2(G6PD):c.485+13G>A rs781898381 0.00001
NM_001360016.2(G6PD):c.544C>T (p.Arg182Trp) rs267606836 0.00001
NM_001360016.2(G6PD):c.574C>T (p.Arg192Cys) rs1557230370 0.00001
NM_001360016.2(G6PD):c.645-12C>T rs1020037412 0.00001
NM_001360016.2(G6PD):c.660C>G (p.Ile220Met) rs782771682 0.00001
NM_001360016.2(G6PD):c.771-3C>T rs398123551 0.00001
NM_001360016.2(G6PD):c.775G>A (p.Val259Met) rs782690505 0.00001
NM_001360016.2(G6PD):c.889G>A (p.Glu297Lys) rs781975796 0.00001
NM_001360016.2(G6PD):c.973G>A (p.Asp325Asn) rs781906610 0.00001
NC_000023.10:g.(?_153760215)_(153764413_?)dup
NC_000023.11:g.154534338dup rs2148330517
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) rs137852337
NM_000402.4(G6PD):c.1532C>G (p.Pro511Arg) rs137852348
NM_000402.4(G6PD):c.262G>A (p.Asp88Asn) rs137852315
NM_001360016.2(G6PD):c.*357G>A
NM_001360016.2(G6PD):c.1013C>T (p.Ala338Val) rs2148329260
NM_001360016.2(G6PD):c.1016C>T (p.Ala339Val)
NM_001360016.2(G6PD):c.1037A>T (p.Asn346Ile) rs398123544
NM_001360016.2(G6PD):c.1051+15C>A rs2070358006
NM_001360016.2(G6PD):c.1072T>G (p.Cys358Gly)
NM_001360016.2(G6PD):c.1075G>A (p.Gly359Ser)
NM_001360016.2(G6PD):c.1090G>A (p.Glu364Lys)
NM_001360016.2(G6PD):c.1096A>G (p.Lys366Glu) rs1057518975
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.1165G>A (p.Glu389Lys)
NM_001360016.2(G6PD):c.1187C>T (p.Pro396Leu) rs1557229683
NM_001360016.2(G6PD):c.1211T>C (p.Met404Thr)
NM_001360016.2(G6PD):c.1243C>T (p.Pro415Ser) rs1603411292
NM_001360016.2(G6PD):c.1268C>T (p.Thr423Ile)
NM_001360016.2(G6PD):c.1273G>A (p.Gly425Ser)
NM_001360016.2(G6PD):c.1274G>T (p.Gly425Val)
NM_001360016.2(G6PD):c.1277A>G (p.Asn426Ser)
NM_001360016.2(G6PD):c.1278C>G (p.Asn426Lys) rs1557229652
NM_001360016.2(G6PD):c.1285A>G (p.Lys429Glu)
NM_001360016.2(G6PD):c.1287+20C>T rs1358637530
NM_001360016.2(G6PD):c.1287+3G>A
NM_001360016.2(G6PD):c.1288-14TC[2] rs199586268
NM_001360016.2(G6PD):c.1291G>A (p.Val431Met)
NM_001360016.2(G6PD):c.1311delinsCGAGCGCCCTGACGCCTAC (p.Arg439_Leu440insProAspAlaTyrGluArg)
NM_001360016.2(G6PD):c.1312G>A (p.Glu438Lys)
NM_001360016.2(G6PD):c.1316G>A (p.Arg439His)
NM_001360016.2(G6PD):c.1330G>A (p.Val444Ile)
NM_001360016.2(G6PD):c.1365-5C>T rs886044905
NM_001360016.2(G6PD):c.1365C>T (p.Ser455=)
NM_001360016.2(G6PD):c.1396A>G (p.Thr466Ala)
NM_001360016.2(G6PD):c.1398C>T (p.Thr466=) rs398123547
NM_001360016.2(G6PD):c.1412A>C (p.Gln471Pro)
NM_001360016.2(G6PD):c.1420C>G (p.Leu474Val) rs2148328385
NM_001360016.2(G6PD):c.1422G>A (p.Leu474=)
NM_001360016.2(G6PD):c.1441C>G (p.Pro481Ala) rs202122673
NM_001360016.2(G6PD):c.1441C>T (p.Pro481Ser)
NM_001360016.2(G6PD):c.1457+37_1458-10dup
NM_001360016.2(G6PD):c.1466C>T (p.Pro489Leu)
NM_001360016.2(G6PD):c.1487T>G (p.Met496Arg)
NM_001360016.2(G6PD):c.148C>T (p.Pro50Ser)
NM_001360016.2(G6PD):c.1493G>A (p.Arg498Lys)
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.1537C>A (p.His513Asn)
NM_001360016.2(G6PD):c.1537C>T (p.His513Tyr)
NM_001360016.2(G6PD):c.1544T>A (p.Leu515His)
NM_001360016.2(G6PD):c.159-3C>T
NM_001360016.2(G6PD):c.167T>C (p.Phe56Ser)
NM_001360016.2(G6PD):c.169C>T (p.Arg57Trp)
NM_001360016.2(G6PD):c.173A>G (p.Asp58Gly)
NM_001360016.2(G6PD):c.193A>G (p.Thr65Ala) rs199474830
NM_001360016.2(G6PD):c.194C>A (p.Thr65Asn) rs2148331926
NM_001360016.2(G6PD):c.196T>A (p.Phe66Ile) rs2070404146
NM_001360016.2(G6PD):c.197T>A (p.Phe66Tyr)
NM_001360016.2(G6PD):c.220C>G (p.Arg74Gly) rs781848254
NM_001360016.2(G6PD):c.221G>A (p.Arg74His)
NM_001360016.2(G6PD):c.227C>A (p.Thr76Lys)
NM_001360016.2(G6PD):c.227C>T (p.Thr76Ile) rs2148331887
NM_001360016.2(G6PD):c.255G>A (p.Glu85=)
NM_001360016.2(G6PD):c.271A>C (p.Thr91Pro)
NM_001360016.2(G6PD):c.277G>A (p.Glu93Lys)
NM_001360016.2(G6PD):c.287T>C (p.Leu96Pro)
NM_001360016.2(G6PD):c.297G>A (p.Glu99=) rs2070395767
NM_001360016.2(G6PD):c.305T>C (p.Phe102Ser) rs886044847
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.359G>T (p.Arg120Leu) rs782820967
NM_001360016.2(G6PD):c.370C>T (p.His124Tyr)
NM_001360016.2(G6PD):c.373A>G (p.Met125Val)
NM_001360016.2(G6PD):c.376A>T (p.Asn126Tyr) rs1050829
NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg) rs78365220
NM_001360016.2(G6PD):c.386A>C (p.His129Pro)
NM_001360016.2(G6PD):c.392G>A (p.Gly131Glu)
NM_001360016.2(G6PD):c.407G>A (p.Arg136His)
NM_001360016.2(G6PD):c.410T>C (p.Leu137Pro)
NM_001360016.2(G6PD):c.421G>A (p.Ala141Thr)
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.472T>G (p.Cys158Gly)
NM_001360016.2(G6PD):c.485+3A>G
NM_001360016.2(G6PD):c.486-10C>T
NM_001360016.2(G6PD):c.486-34del rs3216174
NM_001360016.2(G6PD):c.490T>C (p.Trp164Arg) rs1603411632
NM_001360016.2(G6PD):c.499A>T (p.Ile167Phe)
NM_001360016.2(G6PD):c.505G>A (p.Val169Met)
NM_001360016.2(G6PD):c.534G>T (p.Gln178His)
NM_001360016.2(G6PD):c.545G>A (p.Arg182Gln)
NM_001360016.2(G6PD):c.545G>C (p.Arg182Pro) rs398123549
NM_001360016.2(G6PD):c.550T>A (p.Ser184Thr)
NM_001360016.2(G6PD):c.551C>A (p.Ser184Tyr)
NM_001360016.2(G6PD):c.553A>C (p.Asn185His)
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.628A>G (p.Asn210Asp) rs2148330535
NM_001360016.2(G6PD):c.634A>G (p.Met212Val)
NM_001360016.2(G6PD):c.644+6G>A
NM_001360016.2(G6PD):c.645-3C>T
NM_001360016.2(G6PD):c.675G>C (p.Trp225Cys) rs398123550
NM_001360016.2(G6PD):c.686A>T (p.Asn229Ile)
NM_001360016.2(G6PD):c.701T>C (p.Ile234Thr)
NM_001360016.2(G6PD):c.739G>A (p.Gly247Arg)
NM_001360016.2(G6PD):c.751G>A (p.Asp251Asn)
NM_001360016.2(G6PD):c.769C>G (p.Arg257Gly) rs2070375134
NM_001360016.2(G6PD):c.811G>A (p.Val271Met)
NM_001360016.2(G6PD):c.815C>T (p.Ala272Val) rs1603411458
NM_001360016.2(G6PD):c.829G>T (p.Ala277Ser) rs1557230050
NM_001360016.2(G6PD):c.833CCA[1] (p.Thr279del)
NM_001360016.2(G6PD):c.835A>T (p.Thr279Ser) rs2148329890
NM_001360016.2(G6PD):c.836C>T (p.Thr279Ile)
NM_001360016.2(G6PD):c.857A>G (p.Asp286Gly) rs2148329856
NM_001360016.2(G6PD):c.859G>A (p.Glu287Lys) rs387906471
NM_001360016.2(G6PD):c.909_911del (p.Val304del)
NM_001360016.2(G6PD):c.910G>A (p.Val304Ile)
NM_001360016.2(G6PD):c.922T>C (p.Tyr308His)
NM_001360016.2(G6PD):c.928G>C (p.Gly310Arg)
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.988C>T (p.Arg330Cys)
NM_001360016.2(G6PD):c.989G>A (p.Arg330His)
NM_001360016.2(G6PD):c.[202G>A;376A>G563C>T]
NM_001360016.2(G6PD):c.[202G>A;563C>T]
NM_001360016.2(G6PD):c.[311G>A;376A>G]
NM_001360016.2(G6PD):c.[376A>G;563C>T]

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