ClinVar Miner

List of variants in gene G6PD reported as likely benign for G6PD-related disorder

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001360016.2(G6PD):c.311G>A (p.Arg104His) rs181277621 0.00078
NM_001360016.2(G6PD):c.1245C>T (p.Pro415=) rs147131392 0.00056
NM_001360016.2(G6PD):c.1134C>T (p.Gly378=) rs200195961 0.00022
NM_001360016.2(G6PD):c.1240A>C (p.Asn414His) rs201794043 0.00013
NM_001360016.2(G6PD):c.957C>T (p.Thr319=) rs199702562 0.00010
NM_001360016.2(G6PD):c.1287+3G>C rs782786750 0.00008
NM_001360016.2(G6PD):c.207C>T (p.Gly69=) rs782770344 0.00005
NM_001360016.2(G6PD):c.864+40G>A rs201958777 0.00005
NM_001360016.2(G6PD):c.1368C>T (p.Asp456=) rs782170250 0.00002
NM_001360016.2(G6PD):c.546G>A (p.Arg182=) rs1557230386
NM_001360016.2(G6PD):c.645-8_645-5del rs782160396
NM_001360016.2(G6PD):c.981G>A (p.Thr327=) rs782593777

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