ClinVar Miner

List of variants studied for Anemia, nonspherocytic hemolytic, due to G6PD deficiency by Invitae

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ClinVar version:
Total variants: 425
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HGVS dbSNP gnomAD frequency
NM_001360016.2(G6PD):c.*357= rs1050757 0.36655
G6PD:c.1455-13T>C rs2071429 0.36538
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.1116G>A (p.Gln372=) rs2230036 0.03373
NM_001360016.2(G6PD):c.1431C>T (p.Pro477=) rs77214077 0.02424
NM_001360016.2(G6PD):c.645-17C>T rs5986875 0.00915
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.1458-13C>G rs371772243 0.00093
NM_001360016.2(G6PD):c.311G>A (p.Arg104His) rs181277621 0.00081
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318 0.00072
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_000402.4(G6PD):c.632A>T (p.Asp211Val) rs5030872 0.00048
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu) rs72554665 0.00046
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_001360016.2(G6PD):c.1052-4G>A rs372124193 0.00025
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.381C>T (p.Ala127=) rs781997962 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.1360C>T (p.Arg454Cys) rs398123546 0.00014
NM_001360016.2(G6PD):c.1240A>C (p.Asn414His) rs201794043 0.00013
NM_001360016.2(G6PD):c.375G>C (p.Met125Ile) rs782130334 0.00013
NM_001360016.2(G6PD):c.738C>T (p.Arg246=) rs144341068 0.00013
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) rs72554664 0.00012
NM_001360016.2(G6PD):c.1458-12G>A rs369024848 0.00012
NM_001360016.2(G6PD):c.121-20A>T rs782444702 0.00011
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_001360016.2(G6PD):c.519C>T (p.Phe173=) rs200111236 0.00010
NM_001360016.2(G6PD):c.957C>T (p.Thr319=) rs199702562 0.00010
NM_001360016.2(G6PD):c.990C>T (p.Arg330=) rs782064465 0.00010
NM_001360016.2(G6PD):c.244A>C (p.Lys82Gln) rs782065240 0.00009
NM_000402.4(G6PD):c.185A>G (p.His62Arg) rs137852340 0.00008
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.120+7A>C rs369904290 0.00008
NM_001360016.2(G6PD):c.1287+3G>C rs782786750 0.00008
NM_001360016.2(G6PD):c.1405C>T (p.Leu469=) rs369482861 0.00008
NM_001360016.2(G6PD):c.1052-19T>C rs782238350 0.00007
NM_001360016.2(G6PD):c.1014A>G (p.Ala338=) rs1401465965 0.00006
NM_001360016.2(G6PD):c.1021G>A (p.Val341Ile) rs782174983 0.00006
NM_001360016.2(G6PD):c.1272C>T (p.Tyr424=) rs186843026 0.00006
NM_001360016.2(G6PD):c.795G>A (p.Leu265=) rs374222477 0.00006
NM_001360016.2(G6PD):c.1065C>T (p.Ile355=) rs1557229753 0.00005
NM_001360016.2(G6PD):c.1191C>T (p.Asn397=) rs781798712 0.00005
NM_001360016.2(G6PD):c.1493G>C (p.Arg498Thr) rs782422580 0.00005
NM_001360016.2(G6PD):c.207C>T (p.Gly69=) rs782770344 0.00005
NM_001360016.2(G6PD):c.337G>A (p.Asp113Asn) rs5030870 0.00005
NM_001360016.2(G6PD):c.690C>T (p.Ile230=) rs781917123 0.00005
NM_001360016.2(G6PD):c.696C>T (p.Cys232=) rs782061495 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.972C>T (p.Asp324=) rs782534709 0.00005
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) rs137852331 0.00004
NM_001360016.2(G6PD):c.121-13C>T rs782558415 0.00004
NM_001360016.2(G6PD):c.1287+18A>G rs782133149 0.00004
NM_001360016.2(G6PD):c.1329C>T (p.Asp443=) rs138919671 0.00004
NM_001360016.2(G6PD):c.268-11G>A rs781983059 0.00004
NM_001360016.2(G6PD):c.435C>T (p.Thr145=) rs1451145498 0.00004
NM_001360016.2(G6PD):c.771-8G>A rs368790003 0.00004
NM_001360016.2(G6PD):c.813G>A (p.Val271=) rs782732134 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_000402.4(G6PD):c.682C>T (p.Arg228Cys) rs137852330 0.00003
NM_001360016.2(G6PD):c.1023C>T (p.Val341=) rs201321423 0.00003
NM_001360016.2(G6PD):c.1051+11C>G rs1258960910 0.00003
NM_001360016.2(G6PD):c.1068G>A (p.Leu356=) rs368898047 0.00003
NM_001360016.2(G6PD):c.1131C>T (p.Ala377=) rs782432107 0.00003
NM_001360016.2(G6PD):c.1356C>T (p.Phe452=) rs370808115 0.00003
NM_001360016.2(G6PD):c.1365-7C>T rs1168711308 0.00003
NM_001360016.2(G6PD):c.1482G>A (p.Glu494=) rs1230419397 0.00003
NM_001360016.2(G6PD):c.158+13C>T rs990745079 0.00003
NM_001360016.2(G6PD):c.644+20G>A rs782108377 0.00003
NM_001360016.2(G6PD):c.645-7C>T rs782468778 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_000402.4(G6PD):c.298T>C (p.Tyr100His) rs137852349 0.00002
NM_001360016.2(G6PD):c.1017C>T (p.Ala339=) rs1440647556 0.00002
NM_001360016.2(G6PD):c.1113G>A (p.Leu371=) rs1166552162 0.00002
NM_001360016.2(G6PD):c.1164C>T (p.Asn388=) rs782623392 0.00002
NM_001360016.2(G6PD):c.1287+19G>A rs781980305 0.00002
NM_001360016.2(G6PD):c.1338C>T (p.Cys446=) rs1557229582 0.00002
NM_001360016.2(G6PD):c.1368C>T (p.Asp456=) rs782170250 0.00002
NM_001360016.2(G6PD):c.1437C>T (p.Pro479=) rs781829860 0.00002
NM_001360016.2(G6PD):c.1443C>T (p.Pro481=) rs377659103 0.00002
NM_001360016.2(G6PD):c.1452T>C (p.Tyr484=) rs782797399 0.00002
NM_001360016.2(G6PD):c.1457+19C>T rs1557229460 0.00002
NM_001360016.2(G6PD):c.1470G>A (p.Thr490=) rs782206043 0.00002
NM_001360016.2(G6PD):c.186C>T (p.Pro62=) rs781875587 0.00002
NM_001360016.2(G6PD):c.209A>G (p.Tyr70Cys) rs782090947 0.00002
NM_001360016.2(G6PD):c.220C>T (p.Arg74Cys) rs781848254 0.00002
NM_001360016.2(G6PD):c.264C>G (p.Phe88Leu) rs781794862 0.00002
NM_001360016.2(G6PD):c.336C>T (p.Tyr112=) rs1307320948 0.00002
NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys) rs979416826 0.00002
NM_001360016.2(G6PD):c.441C>T (p.Tyr147=) rs375189502 0.00002
NM_001360016.2(G6PD):c.477G>C (p.Met159Ile) rs370918918 0.00002
NM_001360016.2(G6PD):c.564C>T (p.Ser188=) rs200626353 0.00002
NM_001360016.2(G6PD):c.597C>T (p.Ile199=) rs369516039 0.00002
NM_001360016.2(G6PD):c.708C>T (p.Thr236=) rs782118135 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_000402.4(G6PD):c.1451G>A (p.Arg484His) rs137852324 0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_000402.4(G6PD):c.607T>C (p.Phe203Leu) rs137852343 0.00001
NM_001360016.2(G6PD):c.1004C>A (p.Ala335Asp) rs1557229854 0.00001
NM_001360016.2(G6PD):c.1052-10C>T rs1557229778 0.00001
NM_001360016.2(G6PD):c.1052-9G>A rs1334473526 0.00001
NM_001360016.2(G6PD):c.1059C>T (p.Pro353=) rs80280508 0.00001
NM_001360016.2(G6PD):c.1074C>T (p.Cys358=) rs782078151 0.00001
NM_001360016.2(G6PD):c.1084C>T (p.Leu362=) rs375809290 0.00001
NM_001360016.2(G6PD):c.1086G>A (p.Leu362=) rs1557229739 0.00001
NM_001360016.2(G6PD):c.1254G>A (p.Ser418=) rs371808526 0.00001
NM_001360016.2(G6PD):c.1287+14A>G rs1557229641 0.00001
NM_001360016.2(G6PD):c.1290C>T (p.Asn430=) rs782761811 0.00001
NM_001360016.2(G6PD):c.1314G>A (p.Glu438=) rs1557229604 0.00001
NM_001360016.2(G6PD):c.1347G>C (p.Gln449His) rs1557229572 0.00001
NM_001360016.2(G6PD):c.1464C>T (p.Gly488=) rs1557229428 0.00001
NM_001360016.2(G6PD):c.1485G>A (p.Leu495=) rs781923155 0.00001
NM_001360016.2(G6PD):c.1506G>A (p.Gln502=) rs1447713922 0.00001
NM_001360016.2(G6PD):c.153C>T (p.Thr51=) rs2070406324 0.00001
NM_001360016.2(G6PD):c.177C>T (p.Gly59=) rs1557230778 0.00001
NM_001360016.2(G6PD):c.228A>T (p.Thr76=) rs782143230 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.267+7G>A rs2070402994 0.00001
NM_001360016.2(G6PD):c.309C>T (p.Ala103=) rs781967989 0.00001
NM_001360016.2(G6PD):c.333G>A (p.Gln111=) rs782572765 0.00001
NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro) rs78365220 0.00001
NM_001360016.2(G6PD):c.396A>C (p.Ser132=) rs1557230597 0.00001
NM_001360016.2(G6PD):c.432G>A (p.Pro144=) rs782618375 0.00001
NM_001360016.2(G6PD):c.447C>T (p.Ala149=) rs1557230574 0.00001
NM_001360016.2(G6PD):c.485+13G>A rs781898381 0.00001
NM_001360016.2(G6PD):c.516C>T (p.Pro172=) rs781805733 0.00001
NM_001360016.2(G6PD):c.574C>T (p.Arg192Cys) rs1557230370 0.00001
NM_001360016.2(G6PD):c.645-8C>T rs782599047 0.00001
NM_001360016.2(G6PD):c.648T>C (p.Phe216=) rs137852319 0.00001
NM_001360016.2(G6PD):c.654C>T (p.Asn218=) rs1557230228 0.00001
NM_001360016.2(G6PD):c.660C>G (p.Ile220Met) rs782771682 0.00001
NM_001360016.2(G6PD):c.663C>T (p.Phe221=) rs782530472 0.00001
NM_001360016.2(G6PD):c.771-9C>T rs1237524196 0.00001
NM_001360016.2(G6PD):c.774C>T (p.Asp258=) rs1252251475 0.00001
NM_001360016.2(G6PD):c.775G>A (p.Val259Met) rs782690505 0.00001
NM_001360016.2(G6PD):c.865-5C>T rs781920344 0.00001
NM_001360016.2(G6PD):c.973G>A (p.Asp325Asn) rs781906610 0.00001
G6PD Amsterdam rs2070404412
G6PD NARA rs587776730
NC_000023.10:g.(?_152014869)_(154563736_?)del
NC_000023.10:g.(?_152954030)_(154005142_?)del
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_000402.4(G6PD):c.1147C>T (p.Pro383Ser) rs137852333
NM_000402.4(G6PD):c.1192G>A (p.Glu398Lys) rs387906468
NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu) rs137852320
NM_000402.4(G6PD):c.1249C>T (p.Arg417Cys) rs137852334
NM_000402.4(G6PD):c.1250G>A (p.Arg417His) rs137852321
NM_000402.4(G6PD):c.1268G>A (p.Arg423His) rs137852316
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) rs137852337
NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro) rs72554665
NM_000402.4(G6PD):c.1490C>G (p.Pro497Arg) rs137852344
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly) rs78478128
NM_000402.4(G6PD):c.482G>T (p.Gly161Val) rs137852341
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000402.4(G6PD):c.683G>A (p.Arg228His) rs137852332
NM_000402.4(G6PD):c.727G>T (p.Val243Leu) rs137852326
NM_000402.4(G6PD):c.896G>A (p.Cys299Tyr) rs137852346
NM_001099857.5(IKBKG):c.-16+1G>T rs2148357351
NM_001360016.2(G6PD):c.1002C>T (p.Thr334=)
NM_001360016.2(G6PD):c.1016C>T (p.Ala339Val)
NM_001360016.2(G6PD):c.1020C>T (p.Val340=)
NM_001360016.2(G6PD):c.1051+11C>T rs1258960910
NM_001360016.2(G6PD):c.1052-16C>A
NM_001360016.2(G6PD):c.1053G>A (p.Gly351=) rs782533137
NM_001360016.2(G6PD):c.1053G>T (p.Gly351=)
NM_001360016.2(G6PD):c.1056G>A (p.Val352=)
NM_001360016.2(G6PD):c.1072T>G (p.Cys358Gly)
NM_001360016.2(G6PD):c.1098G>A (p.Lys366=) rs2070354836
NM_001360016.2(G6PD):c.1104G>C (p.Glu368Asp) rs1421656710
NM_001360016.2(G6PD):c.1108A>C (p.Arg370=)
NM_001360016.2(G6PD):c.1132G>A (p.Gly378Ser)
NM_001360016.2(G6PD):c.1134C>T (p.Gly378=)
NM_001360016.2(G6PD):c.1146C>G (p.His382Gln)
NM_001360016.2(G6PD):c.1177C>T (p.Arg393Cys) rs2148328873
NM_001360016.2(G6PD):c.1182G>A (p.Val394=) rs2148328863
NM_001360016.2(G6PD):c.1187C>T (p.Pro396Leu) rs1557229683
NM_001360016.2(G6PD):c.1197C>T (p.Ala399=)
NM_001360016.2(G6PD):c.120+13C>G
NM_001360016.2(G6PD):c.120+14A>T
NM_001360016.2(G6PD):c.120+7A>G rs369904290
NM_001360016.2(G6PD):c.120+9C>T rs886044853
NM_001360016.2(G6PD):c.1203C>T (p.Tyr401=) rs2148328821
NM_001360016.2(G6PD):c.1206C>G (p.Thr402=)
NM_001360016.2(G6PD):c.1209G>A (p.Lys403=) rs1355739430
NM_001360016.2(G6PD):c.121-19C>A
NM_001360016.2(G6PD):c.121-4A>C
NM_001360016.2(G6PD):c.121-5C>T
NM_001360016.2(G6PD):c.1218C>T (p.Thr406=)
NM_001360016.2(G6PD):c.1227G>A (p.Pro409=) rs781879876
NM_001360016.2(G6PD):c.1243C>T (p.Pro415Ser) rs1603411292
NM_001360016.2(G6PD):c.1260G>A (p.Leu420=) rs2148328776
NM_001360016.2(G6PD):c.1266G>C (p.Leu422=) rs2148328772
NM_001360016.2(G6PD):c.1269C>T (p.Thr423=) rs2148328766
NM_001360016.2(G6PD):c.1277A>G (p.Asn426Ser)
NM_001360016.2(G6PD):c.1278C>G (p.Asn426Lys) rs1557229652
NM_001360016.2(G6PD):c.1287+7T>C
NM_001360016.2(G6PD):c.1288-11C>T
NM_001360016.2(G6PD):c.1288-12T>A rs2148328659
NM_001360016.2(G6PD):c.1288-13C>G
NM_001360016.2(G6PD):c.1288-14T>A
NM_001360016.2(G6PD):c.1288-14TC[2] rs199586268
NM_001360016.2(G6PD):c.1288-15C>T
NM_001360016.2(G6PD):c.1288-16A>C
NM_001360016.2(G6PD):c.1288-17C>G
NM_001360016.2(G6PD):c.1288-4A>G
NM_001360016.2(G6PD):c.1288-5C>T
NM_001360016.2(G6PD):c.1288-8C>A rs2148328644
NM_001360016.2(G6PD):c.1288-8C>T rs2148328644
NM_001360016.2(G6PD):c.1293G>A (p.Val431=)
NM_001360016.2(G6PD):c.1305C>T (p.Asp435=)
NM_001360016.2(G6PD):c.130G>A (p.Ala44Thr)
NM_001360016.2(G6PD):c.1311= (p.Tyr437=) rs2230037
NM_001360016.2(G6PD):c.1311T>C (p.Tyr437=) rs2230037
NM_001360016.2(G6PD):c.1323C>T (p.Ile441=)
NM_001360016.2(G6PD):c.1324C>T (p.Leu442=)
NM_001360016.2(G6PD):c.1326G>A (p.Leu442=)
NM_001360016.2(G6PD):c.132C>G (p.Ala44=)
NM_001360016.2(G6PD):c.1344C>T (p.Ser448=) rs2148328562
NM_001360016.2(G6PD):c.1346A>G (p.Gln449Arg)
NM_001360016.2(G6PD):c.1354_1358del (p.Phe452fs)
NM_001360016.2(G6PD):c.1364+10A>G
NM_001360016.2(G6PD):c.1364+15C>T rs2148328536
NM_001360016.2(G6PD):c.1364+16C>T
NM_001360016.2(G6PD):c.1364+17G>A
NM_001360016.2(G6PD):c.1364+18G>A
NM_001360016.2(G6PD):c.1365-19C>T
NM_001360016.2(G6PD):c.1365-5C>T rs886044905
NM_001360016.2(G6PD):c.1365-8C>A
NM_001360016.2(G6PD):c.1365-8C>T
NM_001360016.2(G6PD):c.1365C>T (p.Ser455=)
NM_001360016.2(G6PD):c.1371G>A (p.Glu457=)
NM_001360016.2(G6PD):c.1375C>T (p.Arg459Cys) rs2070346788
NM_001360016.2(G6PD):c.1376G>A (p.Arg459His) rs72554665
NM_001360016.2(G6PD):c.1396A>G (p.Thr466Ala)
NM_001360016.2(G6PD):c.1398C>T (p.Thr466=) rs398123547
NM_001360016.2(G6PD):c.1402C>T (p.Leu468=)
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>C (p.Leu474=) rs2148328378
NM_001360016.2(G6PD):c.1441C>T (p.Pro481Ser)
NM_001360016.2(G6PD):c.1446T>C (p.Tyr482=)
NM_001360016.2(G6PD):c.1457+10G>A rs2148328331
NM_001360016.2(G6PD):c.1457+11G>C
NM_001360016.2(G6PD):c.1457+11G>T
NM_001360016.2(G6PD):c.1457+12G>A
NM_001360016.2(G6PD):c.1457+14G>T
NM_001360016.2(G6PD):c.1457+15G>A
NM_001360016.2(G6PD):c.1457+17G>A
NM_001360016.2(G6PD):c.1457+37_1458-10dup
NM_001360016.2(G6PD):c.1457+9A>T
NM_001360016.2(G6PD):c.1458-13C>T rs371772243
NM_001360016.2(G6PD):c.1458-7T>A
NM_001360016.2(G6PD):c.1458-7T>C
NM_001360016.2(G6PD):c.1467C>A (p.Pro489=) rs2148328181
NM_001360016.2(G6PD):c.1470G>C (p.Thr490=)
NM_001360016.2(G6PD):c.148C>T (p.Pro50Ser)
NM_001360016.2(G6PD):c.1491G>A (p.Lys497=)
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.1536C>G (p.Pro512=)
NM_001360016.2(G6PD):c.1536C>T (p.Pro512=)
NM_001360016.2(G6PD):c.1545C>T (p.Leu515=)
NM_001360016.2(G6PD):c.158+16C>T
NM_001360016.2(G6PD):c.158+17A>G
NM_001360016.2(G6PD):c.159-11C>T
NM_001360016.2(G6PD):c.159-16T>C
NM_001360016.2(G6PD):c.159-17C>T
NM_001360016.2(G6PD):c.159-3C>T
NM_001360016.2(G6PD):c.159-8G>T rs2148331979
NM_001360016.2(G6PD):c.165G>A (p.Leu55=)
NM_001360016.2(G6PD):c.168C>T (p.Phe56=) rs2148331964
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.210T>C (p.Tyr70=)
NM_001360016.2(G6PD):c.21G>A (p.Leu7=)
NM_001360016.2(G6PD):c.221G>A (p.Arg74His)
NM_001360016.2(G6PD):c.227C>T (p.Thr76Ile) rs2148331887
NM_001360016.2(G6PD):c.240C>A (p.Ile80=)
NM_001360016.2(G6PD):c.241C>T (p.Arg81Cys)
NM_001360016.2(G6PD):c.255G>A (p.Glu85=)
NM_001360016.2(G6PD):c.261C>T (p.Phe87=)
NM_001360016.2(G6PD):c.268-12C>T
NM_001360016.2(G6PD):c.268-13C>T
NM_001360016.2(G6PD):c.268-24TGTC[2]
NM_001360016.2(G6PD):c.268-6T>C
NM_001360016.2(G6PD):c.26G>A (p.Arg9Gln)
NM_001360016.2(G6PD):c.270C>T (p.Ala90=)
NM_001360016.2(G6PD):c.273C>G (p.Thr91=)
NM_001360016.2(G6PD):c.277G>A (p.Glu93Lys)
NM_001360016.2(G6PD):c.297G>A (p.Glu99=) rs2070395767
NM_001360016.2(G6PD):c.30C>A (p.Thr10=) rs982197712
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.318C>G (p.Ser106=)
NM_001360016.2(G6PD):c.318C>T (p.Ser106=) rs2148331419
NM_001360016.2(G6PD):c.321T>C (p.Tyr107=) rs2148331412
NM_001360016.2(G6PD):c.332A>G (p.Gln111Arg)
NM_001360016.2(G6PD):c.345A>G (p.Ala115=)
NM_001360016.2(G6PD):c.346G>C (p.Ala116Pro)
NM_001360016.2(G6PD):c.347C>T (p.Ala116Val)
NM_001360016.2(G6PD):c.348C>T (p.Ala116=)
NM_001360016.2(G6PD):c.34G>A (p.Val12Met)
NM_001360016.2(G6PD):c.359G>A (p.Arg120His) rs782820967
NM_001360016.2(G6PD):c.359G>T (p.Arg120Leu) rs782820967
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.384C>T (p.Leu128=) rs2148331335
NM_001360016.2(G6PD):c.404A>C (p.Asn135Thr) rs782322505
NM_001360016.2(G6PD):c.407G>A (p.Arg136His)
NM_001360016.2(G6PD):c.414C>T (p.Phe138=) rs2148331303
NM_001360016.2(G6PD):c.418C>T (p.Leu140=)
NM_001360016.2(G6PD):c.41G>T (p.Gly14Val)
NM_001360016.2(G6PD):c.423C>G (p.Ala141=) rs782627357
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.448G>A (p.Val150Ile) rs1557230573
NM_001360016.2(G6PD):c.463C>G (p.His155Asp)
NM_001360016.2(G6PD):c.464A>C (p.His155Pro)
NM_001360016.2(G6PD):c.465C>T (p.His155=)
NM_001360016.2(G6PD):c.485+12C>T
NM_001360016.2(G6PD):c.485+14T>C
NM_001360016.2(G6PD):c.485+15T>A
NM_001360016.2(G6PD):c.485+17C>T
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.486-6C>T
NM_001360016.2(G6PD):c.497G>A (p.Arg166His)
NM_001360016.2(G6PD):c.501C>T (p.Ile167=)
NM_001360016.2(G6PD):c.504C>T (p.Ile168=)
NM_001360016.2(G6PD):c.505G>A (p.Val169Met)
NM_001360016.2(G6PD):c.510G>A (p.Glu170=)
NM_001360016.2(G6PD):c.519C>G (p.Phe173Leu)
NM_001360016.2(G6PD):c.545G>A (p.Arg182Gln)
NM_001360016.2(G6PD):c.546G>C (p.Arg182=)
NM_001360016.2(G6PD):c.554A>G (p.Asn185Ser)
NM_001360016.2(G6PD):c.558C>T (p.His186=)
NM_001360016.2(G6PD):c.559A>G (p.Ile187Val)
NM_001360016.2(G6PD):c.575G>A (p.Arg192His)
NM_001360016.2(G6PD):c.582C>T (p.Asp194=)
NM_001360016.2(G6PD):c.584A>G (p.Gln195Arg)
NM_001360016.2(G6PD):c.585G>A (p.Gln195=)
NM_001360016.2(G6PD):c.595A>G (p.Ile199Val)
NM_001360016.2(G6PD):c.606C>T (p.Tyr202=)
NM_001360016.2(G6PD):c.60T>C (p.Leu20=)
NM_001360016.2(G6PD):c.633C>G (p.Leu211=) rs781866029
NM_001360016.2(G6PD):c.644+10A>G
NM_001360016.2(G6PD):c.644+19C>T
NM_001360016.2(G6PD):c.644+6G>A
NM_001360016.2(G6PD):c.644+7C>T
NM_001360016.2(G6PD):c.644+9A>C rs1279844136
NM_001360016.2(G6PD):c.645-10C>G
NM_001360016.2(G6PD):c.645-14G>T
NM_001360016.2(G6PD):c.645-3C>T
NM_001360016.2(G6PD):c.645-8_645-5del rs782160396
NM_001360016.2(G6PD):c.645-9T>C rs2148330346
NM_001360016.2(G6PD):c.672C>T (p.Ile224=) rs2148330315
NM_001360016.2(G6PD):c.687C>T (p.Asn229=)
NM_001360016.2(G6PD):c.693C>T (p.Ala231=)
NM_001360016.2(G6PD):c.720C>T (p.Pro240=) rs2148330281
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.753T>C (p.Asp251=)
NM_001360016.2(G6PD):c.769C>G (p.Arg257Gly) rs2070375134
NM_001360016.2(G6PD):c.770+12T>C
NM_001360016.2(G6PD):c.770+8C>T
NM_001360016.2(G6PD):c.771-13C>A
NM_001360016.2(G6PD):c.771-13C>T
NM_001360016.2(G6PD):c.771-20C>G
NM_001360016.2(G6PD):c.77T>C (p.Phe26Ser)
NM_001360016.2(G6PD):c.786C>T (p.Asn262=) rs1179691681
NM_001360016.2(G6PD):c.78C>T (p.Phe26=) rs1487624588
NM_001360016.2(G6PD):c.79C>T (p.His27Tyr)
NM_001360016.2(G6PD):c.804G>A (p.Leu268=)
NM_001360016.2(G6PD):c.828C>T (p.Pro276=)
NM_001360016.2(G6PD):c.829G>T (p.Ala277Ser) rs1557230050
NM_001360016.2(G6PD):c.835A>G (p.Thr279Ala)
NM_001360016.2(G6PD):c.835A>T (p.Thr279Ser) rs2148329890
NM_001360016.2(G6PD):c.840C>T (p.Asn280=)
NM_001360016.2(G6PD):c.849C>T (p.Asp283=)
NM_001360016.2(G6PD):c.84G>T (p.Gln28His)
NM_001360016.2(G6PD):c.859G>A (p.Glu287Lys) rs387906471
NM_001360016.2(G6PD):c.864+10G>T rs2070368182
NM_001360016.2(G6PD):c.864+13C>T
NM_001360016.2(G6PD):c.864+16C>G
NM_001360016.2(G6PD):c.864+17A>G
NM_001360016.2(G6PD):c.864+7G>A rs782256985
NM_001360016.2(G6PD):c.864+8dup rs782714017
NM_001360016.2(G6PD):c.865-18C>T
NM_001360016.2(G6PD):c.867C>T (p.Val289=)
NM_001360016.2(G6PD):c.87G>A (p.Ser29=)
NM_001360016.2(G6PD):c.88G>A (p.Asp30Asn)
NM_001360016.2(G6PD):c.894G>T (p.Val298=)
NM_001360016.2(G6PD):c.909G>A (p.Val303=)
NM_001360016.2(G6PD):c.915G>A (p.Leu305=)
NM_001360016.2(G6PD):c.924C>T (p.Tyr308=)
NM_001360016.2(G6PD):c.937G>A (p.Asp313Asn)
NM_001360016.2(G6PD):c.939T>C (p.Asp313=)
NM_001360016.2(G6PD):c.945G>C (p.Glu315Asp) rs2148329357
NM_001360016.2(G6PD):c.947G>A (p.Gly316Asp)
NM_001360016.2(G6PD):c.94C>T (p.His32Tyr) rs2070702973
NM_001360016.2(G6PD):c.962G>A (p.Gly321Glu)
NM_001360016.2(G6PD):c.969G>A (p.Leu323=) rs2148329332
NM_001360016.2(G6PD):c.971A>G (p.Asp324Gly)
NM_001360016.2(G6PD):c.989G>A (p.Arg330His)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.