ClinVar Miner

List of variants in gene G6PD reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 34
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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.1116G>A (p.Gln372=) rs2230036 0.03373
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.*520G>A rs782764609 0.00104
NM_001360016.2(G6PD):c.1458-13C>G rs371772243 0.00093
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318 0.00072
NM_000402.4(G6PD):c.632A>T (p.Asp211Val) rs5030872 0.00048
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_001360016.2(G6PD):c.*365G>A rs1034742794 0.00017
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_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_001360016.2(G6PD):c.1329C>T (p.Asp443=) rs138919671 0.00004
NM_001360016.2(G6PD):c.813G>A (p.Val271=) rs782732134 0.00004
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869 0.00003
NM_001360016.2(G6PD):c.1482G>A (p.Glu494=) rs1230419397 0.00003
NM_000402.4(G6PD):c.944G>A (p.Arg315His) rs74575103 0.00002
NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys) rs979416826 0.00002
NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro) rs78365220 0.00001
NC_000023.11:g.154518193C>T
NC_000023.11:g.154518341C>T
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly) rs78478128
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_001360016.2(G6PD):c.1273G>A (p.Gly425Ser)
NM_001360016.2(G6PD):c.1287+3G>A
NM_001360016.2(G6PD):c.1442C>T (p.Pro481Leu)
NM_001360016.2(G6PD):c.227C>A (p.Thr76Lys)
NM_001360016.2(G6PD):c.241C>T (p.Arg81Cys)
NM_001360016.2(G6PD):c.370C>T (p.His124Tyr)
NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg) rs78365220
NM_001360016.2(G6PD):c.404A>C (p.Asn135Thr) rs782322505

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