ClinVar Miner

List of variants studied for Glucose 6 phosphate dehydrogenase deficiency

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Total variants: 51
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HGVS dbSNP
G6PD A-
G6PD:c.1455-13T>C rs2071429
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339
NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro) rs72554665
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu) rs72554665
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) rs72554664
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868
NM_000402.4(G6PD):c.770G>A (p.Arg257Gln) rs137852328
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318
NM_000402.4(G6PD):c.944G>A (p.Arg315His) rs74575103
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327
NM_001042351.3(G6PD):c.-23G>A
NM_001042351.3(G6PD):c.-9+14C>G
NM_001099856.6(IKBKG):c.190-4418T>C rs111827785
NM_001360016.2(G6PD):c.*25C>T rs781866772
NM_001360016.2(G6PD):c.*281C>T
NM_001360016.2(G6PD):c.*357= rs1050757
NM_001360016.2(G6PD):c.*365G>A rs1034742794
NM_001360016.2(G6PD):c.*466C>G
NM_001360016.2(G6PD):c.*520G>A rs782764609
NM_001360016.2(G6PD):c.*535G>T rs1057515820
NM_001360016.2(G6PD):c.*548C>T
NM_001360016.2(G6PD):c.*599C>T
NM_001360016.2(G6PD):c.*75C>T
NM_001360016.2(G6PD):c.1048G>C (p.Asp350His) rs34193178
NM_001360016.2(G6PD):c.1051+15C>A
NM_001360016.2(G6PD):c.1101C>T (p.Ala367=)
NM_001360016.2(G6PD):c.1116G>A (p.Gln372=) rs2230036
NM_001360016.2(G6PD):c.1164C>T (p.Asn388=) rs782623392
NM_001360016.2(G6PD):c.120+7A>C rs369904290
NM_001360016.2(G6PD):c.1240A>C (p.Asn414His) rs201794043
NM_001360016.2(G6PD):c.1287+3G>C
NM_001360016.2(G6PD):c.1288-14TC[2] rs199586268
NM_001360016.2(G6PD):c.1311= (p.Tyr437=) rs2230037
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys) rs398123546
NM_001360016.2(G6PD):c.1431C>T (p.Pro477=) rs77214077
NM_001360016.2(G6PD):c.1480G>A (p.Glu494Lys)
NM_001360016.2(G6PD):c.297G>A (p.Glu99=)
NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro) rs78365220
NM_001360016.2(G6PD):c.485+13G>A rs781898381
NM_001360016.2(G6PD):c.486-60C>G rs2515904
NM_001360016.2(G6PD):c.582C>G (p.Asp194Glu) rs145247580
NM_001360016.2(G6PD):c.645-12C>T
NM_001360016.2(G6PD):c.680G>T (p.Arg227Leu) rs137852328
NM_001360016.2(G6PD):c.750C>T (p.Phe250=)
NM_001360016.2(G6PD):c.771-11T>C rs782622284
NM_001360016.2(G6PD):c.864+14C>T rs782416820
NM_001360016.2(G6PD):c.88G>T (p.Asp30Tyr)
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693

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