ClinVar Miner

List of variants reported as likely pathogenic for Anemia, nonspherocytic hemolytic, due to G6PD deficiency by Invitae

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001360016.2(G6PD):c.1004C>A (p.Ala335Asp) rs1557229854 0.00001
NM_000402.4(G6PD):c.1490C>G (p.Pro497Arg) rs137852344
NM_000402.4(G6PD):c.727G>T (p.Val243Leu) rs137852326
NM_000402.4(G6PD):c.896G>A (p.Cys299Tyr) rs137852346
NM_001360016.2(G6PD):c.1177C>T (p.Arg393Cys) rs2148328873
NM_001360016.2(G6PD):c.1346A>G (p.Gln449Arg)
NM_001360016.2(G6PD):c.1375C>T (p.Arg459Cys) rs2070346788
NM_001360016.2(G6PD):c.1376G>A (p.Arg459His) rs72554665
NM_001360016.2(G6PD):c.148C>T (p.Pro50Ser)
NM_001360016.2(G6PD):c.407G>A (p.Arg136His)
NM_001360016.2(G6PD):c.448G>A (p.Val150Ile) rs1557230573
NM_001360016.2(G6PD):c.464A>C (p.His155Pro)
NM_001360016.2(G6PD):c.595A>G (p.Ile199Val)
NM_001360016.2(G6PD):c.835A>G (p.Thr279Ala)
NM_001360016.2(G6PD):c.94C>T (p.His32Tyr) rs2070702973
NM_001360016.2(G6PD):c.962G>A (p.Gly321Glu)

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