ClinVar Miner

List of variants in gene G6PD reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_001360016.2(G6PD):c.1365-13C>T rs2071429 0.63462
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_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318 0.00072
NM_001360016.2(G6PD):c.1457+31C>G rs373239864 0.00050
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.864+17A>T rs377041776 0.00019
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_000402.4(G6PD):c.1478G>A (p.Arg493His) rs72554664 0.00012
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_000402.4(G6PD):c.770G>A (p.Arg257Gln) rs137852328 0.00008
NM_001360016.2(G6PD):c.1405C>T (p.Leu469=) rs369482861 0.00008
NM_001360016.2(G6PD):c.1021G>A (p.Val341Ile) rs782174983 0.00006
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) rs137852331 0.00004
NM_001360016.2(G6PD):c.771-8G>A rs368790003 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.486-29G>T rs370403856 0.00003
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.754G>A (p.Glu252Lys) rs782216807 0.00002
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_001360016.2(G6PD):c.337G>T (p.Asp113Tyr) rs5030870 0.00001
NM_001360016.2(G6PD):c.889G>A (p.Glu297Lys) rs781975796 0.00001
G6PD NARA rs587776730
NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu) rs137852320
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.482G>T (p.Gly161Val) rs137852341
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000402.4(G6PD):c.727G>T (p.Val243Leu) rs137852326
NM_001360016.2(G6PD):c.1013C>T (p.Ala338Val) rs2148329260
NM_001360016.2(G6PD):c.1278C>G (p.Asn426Lys) rs1557229652
NM_001360016.2(G6PD):c.1288-14TC[2] rs199586268
NM_001360016.2(G6PD):c.1311= (p.Tyr437=) rs2230037
NM_001360016.2(G6PD):c.1318C>T (p.Leu440Phe) rs1557229599
NM_001360016.2(G6PD):c.1376del (p.Arg459fs) rs2070346743
NM_001360016.2(G6PD):c.1465C>T (p.Pro489Ser) rs1603411177
NM_001360016.2(G6PD):c.318C>T (p.Ser106=) rs2148331419
NM_001360016.2(G6PD):c.404A>C (p.Asn135Thr) rs782322505
NM_001360016.2(G6PD):c.412T>G (p.Phe138Val)
NM_001360016.2(G6PD):c.486-34del rs3216174
NM_001360016.2(G6PD):c.490T>C (p.Trp164Arg) rs1603411632
NM_001360016.2(G6PD):c.628A>G (p.Asn210Asp) rs2148330535
NM_001360016.2(G6PD):c.686A>T (p.Asn229Ile)
NM_001360016.2(G6PD):c.815C>T (p.Ala272Val) rs1603411458
NM_001360016.2(G6PD):c.833CCA[1] (p.Thr279del)
NM_001360016.2(G6PD):c.864+8dup rs782714017

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