ClinVar Miner

List of variants in gene G6PD studied for Malaria, susceptibility to; Anemia, nonspherocytic hemolytic, due to G6PD deficiency

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Total variants: 25
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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 0.00149
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318 0.00072
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_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00026
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) rs72554664 0.00017
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys) rs398123546 0.00014
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314 0.00005
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) rs137852331 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.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys) rs137852330 0.00001
NM_001360016.2(G6PD):c.407G>A (p.Arg136His) rs782205676 0.00001
G6PD NARA rs587776730
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg) rs137852317
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly) rs78478128
NM_000402.4(G6PD):c.482G>T (p.Gly161Val) rs137852341
NM_001360016.2(G6PD):c.1004C>A (p.Ala335Asp) rs1557229854
NM_001360016.2(G6PD):c.1028_1029del (p.Tyr343fs)
NM_001360016.2(G6PD):c.1291G>A (p.Val431Met) rs782098548
NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg) rs78365220
NM_001360016.2(G6PD):c.679C>G (p.Arg227Gly)

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