ClinVar Miner

Variants in gene G6PD with conflicting interpretations "other" and "pathogenic"

Submission 1 (other) minimum review status: Submission 1 (other) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 26
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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_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.1466G>T (p.Arg489Leu) rs72554665 0.00046
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
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.770G>A (p.Arg257Gln) rs137852328 0.00008
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
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.682C>T (p.Arg228Cys) rs137852330 0.00003
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_000402.4(G6PD):c.607T>C (p.Phe203Leu) rs137852343 0.00001
NM_000402.4(G6PD):c.1243T>C (p.Cys415Arg) rs137852322
NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu) rs137852320
NM_000402.4(G6PD):c.1250G>A (p.Arg417His) rs137852321
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.1429G>A (p.Gly477Arg) rs137852317
NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro) rs72554665
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly) rs78478128
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

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