ClinVar Miner

List of variants in gene G6PD reported as likely benign for anemia, nonspherocytic hemolytic, due to G6PD deficiency

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 246
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HGVS dbSNP gnomAD frequency
NM_001360016.2(G6PD):c.1048G>C (p.Asp350His) rs34193178 0.00110
NM_001360016.2(G6PD):c.311G>A (p.Arg104His) rs181277621 0.00081
NM_001360016.2(G6PD):c.582C>G (p.Asp194Glu) rs145247580 0.00063
NM_001360016.2(G6PD):c.1052-4G>A rs372124193 0.00025
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys) rs137852313 0.00016
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_001360016.2(G6PD):c.1458-12G>A rs369024848 0.00012
NM_001360016.2(G6PD):c.121-20A>T rs782444702 0.00011
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.1051+16G>A rs782637386 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.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.207C>T (p.Gly69=) rs782770344 0.00005
NM_001360016.2(G6PD):c.696C>T (p.Cys232=) rs782061495 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_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_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.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.264C>G (p.Phe88Leu) rs781794862 0.00002
NM_001360016.2(G6PD):c.336C>T (p.Tyr112=) rs1307320948 0.00002
NM_001360016.2(G6PD):c.441C>T (p.Tyr147=) rs375189502 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.771-11T>C rs782622284 0.00002
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.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.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.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.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.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.865-5C>T rs781920344 0.00001
NM_001360016.2(G6PD):c.*272G>A
NM_001360016.2(G6PD):c.1002C>T (p.Thr334=)
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.1098G>A (p.Lys366=) rs2070354836
NM_001360016.2(G6PD):c.1108A>C (p.Arg370=)
NM_001360016.2(G6PD):c.1134C>T (p.Gly378=)
NM_001360016.2(G6PD):c.1182G>A (p.Val394=) rs2148328863
NM_001360016.2(G6PD):c.1197C>T (p.Ala399=)
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.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.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.1288-15C>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.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.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.1371G>A (p.Glu457=)
NM_001360016.2(G6PD):c.1402C>T (p.Leu468=)
NM_001360016.2(G6PD):c.1422G>C (p.Leu474=) rs2148328378
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+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.1491G>A (p.Lys497=)
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.159-8G>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.210T>C (p.Tyr70=)
NM_001360016.2(G6PD):c.240C>A (p.Ile80=)
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.270C>T (p.Ala90=)
NM_001360016.2(G6PD):c.273C>G (p.Thr91=)
NM_001360016.2(G6PD):c.297G>A (p.Glu99=) rs2070395767
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.345A>G (p.Ala115=)
NM_001360016.2(G6PD):c.348C>T (p.Ala116=)
NM_001360016.2(G6PD):c.359G>A (p.Arg120His) rs782820967
NM_001360016.2(G6PD):c.376A>T (p.Asn126Tyr) rs1050829
NM_001360016.2(G6PD):c.384C>T (p.Leu128=) rs2148331335
NM_001360016.2(G6PD):c.414C>T (p.Phe138=) rs2148331303
NM_001360016.2(G6PD):c.418C>T (p.Leu140=)
NM_001360016.2(G6PD):c.423C>G (p.Ala141=) rs782627357
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.486-6C>T
NM_001360016.2(G6PD):c.501C>T (p.Ile167=)
NM_001360016.2(G6PD):c.504C>T (p.Ile168=)
NM_001360016.2(G6PD):c.510G>A (p.Glu170=)
NM_001360016.2(G6PD):c.546G>C (p.Arg182=)
NM_001360016.2(G6PD):c.558C>T (p.His186=)
NM_001360016.2(G6PD):c.582C>T (p.Asp194=)
NM_001360016.2(G6PD):c.585G>A (p.Gln195=)
NM_001360016.2(G6PD):c.606C>T (p.Tyr202=)
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+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.645-9T>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.753T>C (p.Asp251=)
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.786C>T (p.Asn262=) rs1179691681
NM_001360016.2(G6PD):c.804G>A (p.Leu268=)
NM_001360016.2(G6PD):c.828C>T (p.Pro276=)
NM_001360016.2(G6PD):c.840C>T (p.Asn280=)
NM_001360016.2(G6PD):c.849C>T (p.Asp283=)
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.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.939T>C (p.Asp313=)
NM_001360016.2(G6PD):c.969G>A (p.Leu323=) rs2148329332
NM_001360016.2(G6PD):c.[1106T>C;499A>T]

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