ClinVar Miner

List of variants in gene G6PD, IKBKG studied for anemia, nonspherocytic hemolytic

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.185A>G (p.His62Arg) rs137852340 0.00008
NM_001360016.2(G6PD):c.120+7A>C rs369904290 0.00008
NC_000023.10:g.(?_153760215)_(153775961_?)dup
NC_000023.10:g.(?_153762230)_(153775961_?)dup
NM_001360016.2(G6PD):c.102CAT[2] (p.Ile36del) rs137852338
NM_001360016.2(G6PD):c.107T>C (p.Ile36Thr)
NM_001360016.2(G6PD):c.120+13C>G
NM_001360016.2(G6PD):c.120+14A>T
NM_001360016.2(G6PD):c.120+199dup rs781893284
NM_001360016.2(G6PD):c.120+7A>G rs369904290
NM_001360016.2(G6PD):c.120+9C>T rs886044853
NM_001360016.2(G6PD):c.21G>A (p.Leu7=)
NM_001360016.2(G6PD):c.25C>T (p.Arg9Trp)
NM_001360016.2(G6PD):c.26G>A (p.Arg9Gln)
NM_001360016.2(G6PD):c.30C>A (p.Thr10=) rs982197712
NM_001360016.2(G6PD):c.31C>T (p.Gln11Ter)
NM_001360016.2(G6PD):c.34G>A (p.Val12Met)
NM_001360016.2(G6PD):c.34G>T (p.Val12Leu)
NM_001360016.2(G6PD):c.41G>T (p.Gly14Val)
NM_001360016.2(G6PD):c.50G>A (p.Arg17Gln)
NM_001360016.2(G6PD):c.60T>C (p.Leu20=)
NM_001360016.2(G6PD):c.72T>A (p.Asp24Glu) rs1557233192
NM_001360016.2(G6PD):c.73G>A (p.Ala25Thr)
NM_001360016.2(G6PD):c.73G>T (p.Ala25Ser)
NM_001360016.2(G6PD):c.77T>C (p.Phe26Ser)
NM_001360016.2(G6PD):c.78C>T (p.Phe26=) rs1487624588
NM_001360016.2(G6PD):c.79C>T (p.His27Tyr)
NM_001360016.2(G6PD):c.7G>A (p.Glu3Lys)
NM_001360016.2(G6PD):c.84G>T (p.Gln28His)
NM_001360016.2(G6PD):c.87G>A (p.Ser29=)
NM_001360016.2(G6PD):c.88G>A (p.Asp30Asn)
NM_001360016.2(G6PD):c.94C>G (p.His32Asp)
NM_001360016.2(G6PD):c.94C>T (p.His32Tyr) rs2070702973

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