ClinVar Miner

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

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Total variants: 173
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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.582C>G (p.Asp194Glu) rs145247580 0.00063
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys) rs137852313 0.00016
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) rs137852342 0.00003
NM_000402.4(G6PD):c.298T>C (p.Tyr100His) rs137852349 0.00002
NM_000402.4(G6PD):c.944G>A (p.Arg315His) rs74575103 0.00002
NM_001360016.2(G6PD):c.209A>G (p.Tyr70Cys) rs782090947 0.00002
NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys) rs979416826 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_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_001360016.2(G6PD):c.1004C>A (p.Ala335Asp) rs1557229854 0.00001
NM_001360016.2(G6PD):c.1347G>C (p.Gln449His) rs1557229572 0.00001
NM_001360016.2(G6PD):c.1366G>A (p.Asp456Asn) rs782317415 0.00001
NM_001360016.2(G6PD):c.242G>A (p.Arg81His) rs782308266 0.00001
NM_001360016.2(G6PD):c.551C>T (p.Ser184Phe) rs782315572 0.00001
NM_001360016.2(G6PD):c.660C>G (p.Ile220Met) rs782771682 0.00001
NM_001360016.2(G6PD):c.973G>A (p.Asp325Asn) rs781906610 0.00001
G6PD A-
G6PD NARA rs587776730
NM_000402.4(G6PD):c.1054T>C (p.Tyr352His) rs137852347
NM_000402.4(G6PD):c.1172C>T (p.Ala391Val) rs137852345
NM_000402.4(G6PD):c.1179C>A (p.Asn393Lys) rs137852329
NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu) rs137852320
NM_000402.4(G6PD):c.1270G>C (p.Val424Leu) rs137852335
NM_000402.4(G6PD):c.1318G>T (p.Gly440Cys) rs137852323
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) rs137852337
NM_000402.4(G6PD):c.1490C>G (p.Pro497Arg) rs137852344
NM_000402.4(G6PD):c.1532C>G (p.Pro511Arg) rs137852348
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>C (p.Arg228Pro) rs137852332
NM_000402.4(G6PD):c.727G>T (p.Val243Leu) rs137852326
NM_000402.4(G6PD):c.738T>G (p.Phe246Leu) rs137852319
NM_000402.4(G6PD):c.896G>A (p.Cys299Tyr) rs137852346
NM_001042351.1(G6PD):c.[317C>G;544C>T;592C>T]
NM_001042351.1(G6PD):c.[376A>G;542A>T]
NM_001360016.2(G6PD):c.1006A>G (p.Thr336Ala)
NM_001360016.2(G6PD):c.1030G>A (p.Val344Met)
NM_001360016.2(G6PD):c.1052G>T (p.Gly351Val)
NM_001360016.2(G6PD):c.1063A>G (p.Ile355Val)
NM_001360016.2(G6PD):c.1067T>A (p.Leu356Gln)
NM_001360016.2(G6PD):c.1081G>A (p.Ala361Thr)
NM_001360016.2(G6PD):c.1084_1101del (p.Leu362_Ala367del)
NM_001360016.2(G6PD):c.1088A>T (p.Asn363Ile) rs1557229736
NM_001360016.2(G6PD):c.1094G>A (p.Arg365His)
NM_001360016.2(G6PD):c.1132G>A (p.Gly378Ser)
NM_001360016.2(G6PD):c.1141T>C (p.Phe381Leu)
NM_001360016.2(G6PD):c.1154G>T (p.Cys385Phe)
NM_001360016.2(G6PD):c.1166A>G (p.Glu389Gly)
NM_001360016.2(G6PD):c.1175T>C (p.Ile392Thr)
NM_001360016.2(G6PD):c.1177C>T (p.Arg393Cys) rs2148328873
NM_001360016.2(G6PD):c.1193A>G (p.Glu398Gly)
NM_001360016.2(G6PD):c.1229G>C (p.Gly410Ala)
NM_001360016.2(G6PD):c.1291G>A (p.Val431Met)
NM_001360016.2(G6PD):c.1315C>T (p.Arg439Cys) rs2148328604
NM_001360016.2(G6PD):c.1318C>T (p.Leu440Phe) rs1557229599
NM_001360016.2(G6PD):c.1330G>A (p.Val444Ile)
NM_001360016.2(G6PD):c.1340G>T (p.Gly447Val)
NM_001360016.2(G6PD):c.1342A>G (p.Ser448Gly)
NM_001360016.2(G6PD):c.1346A>G (p.Gln449Arg)
NM_001360016.2(G6PD):c.1351C>T (p.His451Tyr)
NM_001360016.2(G6PD):c.1358T>A (p.Val453Glu)
NM_001360016.2(G6PD):c.1361G>T (p.Arg454Leu)
NM_001360016.2(G6PD):c.1366G>C (p.Asp456His)
NM_001360016.2(G6PD):c.1367A>T (p.Asp456Val)
NM_001360016.2(G6PD):c.1372C>T (p.Leu458Phe)
NM_001360016.2(G6PD):c.1375C>G (p.Arg459Gly)
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.1380G>C (p.Glu460Asp)
NM_001360016.2(G6PD):c.1381G>A (p.Ala461Thr)
NM_001360016.2(G6PD):c.1387C>A (p.Arg463Ser)
NM_001360016.2(G6PD):c.1387C>T (p.Arg463Cys)
NM_001360016.2(G6PD):c.1441C>G (p.Pro481Ala) rs202122673
NM_001360016.2(G6PD):c.1457+7_1458-43del
NM_001360016.2(G6PD):c.148C>T (p.Pro50Ser)
NM_001360016.2(G6PD):c.1490_1492del (p.Lys497del)
NM_001360016.2(G6PD):c.152C>T (p.Thr51Ile) rs2148332084
NM_001360016.2(G6PD):c.170G>A (p.Arg57Gln)
NM_001360016.2(G6PD):c.179T>C (p.Leu60Pro)
NM_001360016.2(G6PD):c.185C>A (p.Pro62His)
NM_001360016.2(G6PD):c.185C>T (p.Pro62Leu)
NM_001360016.2(G6PD):c.187G>A (p.Glu63Lys)
NM_001360016.2(G6PD):c.193A>G (p.Thr65Ala) rs199474830
NM_001360016.2(G6PD):c.197T>G (p.Phe66Cys)
NM_001360016.2(G6PD):c.219C>T (p.Ser73=)
NM_001360016.2(G6PD):c.224T>C (p.Leu75Pro)
NM_001360016.2(G6PD):c.227C>A (p.Thr76Lys)
NM_001360016.2(G6PD):c.235G>C (p.Asp79His) rs2148331875
NM_001360016.2(G6PD):c.274C>T (p.Pro92Ser)
NM_001360016.2(G6PD):c.290A>T (p.Lys97Met)
NM_001360016.2(G6PD):c.305T>C (p.Phe102Ser) rs886044847
NM_001360016.2(G6PD):c.312C>T (p.Arg104=)
NM_001360016.2(G6PD):c.352T>C (p.Tyr118His)
NM_001360016.2(G6PD):c.353A>C (p.Tyr118Ser) rs2148331380
NM_001360016.2(G6PD):c.356A>C (p.Gln119Pro)
NM_001360016.2(G6PD):c.371A>G (p.His124Arg)
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.407G>A (p.Arg136His)
NM_001360016.2(G6PD):c.409C>T (p.Leu137Phe)
NM_001360016.2(G6PD):c.442G>A (p.Glu148Lys)
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.473G>A (p.Cys158Tyr)
NM_001360016.2(G6PD):c.485+184del
NM_001360016.2(G6PD):c.486-17C>T
NM_001360016.2(G6PD):c.486-17del
NM_001360016.2(G6PD):c.488G>A (p.Gly163Asp)
NM_001360016.2(G6PD):c.496C>T (p.Arg166Cys)
NM_001360016.2(G6PD):c.497G>A (p.Arg166His)
NM_001360016.2(G6PD):c.514C>T (p.Pro172Ser)
NM_001360016.2(G6PD):c.527A>G (p.Asp176Gly)
NM_001360016.2(G6PD):c.573C>G (p.Phe191Leu)
NM_001360016.2(G6PD):c.585G>C (p.Gln195His)
NM_001360016.2(G6PD):c.586A>T (p.Ile196Phe)
NM_001360016.2(G6PD):c.592C>A (p.Arg198Ser)
NM_001360016.2(G6PD):c.595A>G (p.Ile199Val)
NM_001360016.2(G6PD):c.598G>A (p.Asp200Asn)
NM_001360016.2(G6PD):c.611G>A (p.Gly204Asp) rs2148330566
NM_001360016.2(G6PD):c.634A>G (p.Met212Val)
NM_001360016.2(G6PD):c.655A>G (p.Arg219Gly)
NM_001360016.2(G6PD):c.683ACA[1] (p.Asn229del)
NM_001360016.2(G6PD):c.691G>C (p.Ala231Pro)
NM_001360016.2(G6PD):c.695G>A (p.Cys232Tyr)
NM_001360016.2(G6PD):c.697G>C (p.Val233Leu)
NM_001360016.2(G6PD):c.725_730del (p.Gly242_Thr243del)
NM_001360016.2(G6PD):c.737G>T (p.Arg246Leu)
NM_001360016.2(G6PD):c.739G>A (p.Gly247Arg)
NM_001360016.2(G6PD):c.743G>A (p.Gly248Asp)
NM_001360016.2(G6PD):c.769C>G (p.Arg257Gly) rs2070375134
NM_001360016.2(G6PD):c.770G>T (p.Arg257Leu)
NM_001360016.2(G6PD):c.811G>C (p.Val271Leu)
NM_001360016.2(G6PD):c.820G>A (p.Glu274Lys)
NM_001360016.2(G6PD):c.821A>T (p.Glu274Val)
NM_001360016.2(G6PD):c.825G>C (p.Lys275Asn)
NM_001360016.2(G6PD):c.826C>T (p.Pro276Ser)
NM_001360016.2(G6PD):c.832T>C (p.Ser278Pro)
NM_001360016.2(G6PD):c.833C>T (p.Ser278Phe)
NM_001360016.2(G6PD):c.835A>G (p.Thr279Ala)
NM_001360016.2(G6PD):c.835A>T (p.Thr279Ser) rs2148329890
NM_001360016.2(G6PD):c.844G>T (p.Asp282Tyr)
NM_001360016.2(G6PD):c.848A>T (p.Asp283Val) rs1557230040
NM_001360016.2(G6PD):c.851T>C (p.Val284Ala)
NM_001360016.2(G6PD):c.853C>T (p.Arg285Cys)
NM_001360016.2(G6PD):c.864+43G>A
NM_001360016.2(G6PD):c.864+44del
NM_001360016.2(G6PD):c.910G>T (p.Val304Phe)
NM_001360016.2(G6PD):c.920A>C (p.Gln307Pro)
NM_001360016.2(G6PD):c.921G>C (p.Gln307His)
NM_001360016.2(G6PD):c.962G>A (p.Gly321Glu)
NM_001360016.2(G6PD):c.995C>T (p.Ser332Phe)
NM_001360016.2(G6PD):c.[1037A>T;637G>T]
NM_001360016.2(G6PD):c.[1048G>C;406C>T]
NM_001360016.2(G6PD):c.[1159C>T;376A>G]
NM_001360016.2(G6PD):c.[1264C>G;202G>A376A>G]
NM_001360016.2(G6PD):c.[1347G>C;1360C>T]
NM_001360016.2(G6PD):c.[1376G>T;1502T>G]
NM_001360016.2(G6PD):c.[143T>C;202G>A]
NM_001360016.2(G6PD):c.[143T>C;563C>T]
NM_001360016.2(G6PD):c.[202G>A;871G>A]
NM_001360016.2(G6PD):c.[375G>T;379G>T383T>C384C>T]
NM_001360016.2(G6PD):c.[376A>G;463C>G]
NM_001360016.2(G6PD):c.[376A>G;680G>T]
NM_001360016.2(G6PD):c.[376A>G;871G>A]
NM_001360016.2(G6PD):c.[769C>A;770G>T]

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