List of variants in gene G6PD reported as uncertain significance for anemia, nonspherocytic hemolytic

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 105

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HGVS	dbSNP	gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)	rs1050829	0.08672
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_000402.4(G6PD):c.556G>A (p.Glu186Lys)	rs137852313	0.00016
NM_001360016.2(G6PD):c.1152G>C (p.Gln384His)	rs368832453	0.00016
NM_001360016.2(G6PD):c.244A>C (p.Lys82Gln)	rs782065240	0.00009
NM_000402.4(G6PD):c.770G>A (p.Arg257Gln)	rs137852328	0.00008
NM_001360016.2(G6PD):c.1287+3G>C	rs782786750	0.00008
NM_001360016.2(G6PD):c.1021G>A (p.Val341Ile)	rs782174983	0.00006
NM_001360016.2(G6PD):c.1493G>C (p.Arg498Thr)	rs782422580	0.00005
NM_001360016.2(G6PD):c.337G>A (p.Asp113Asn)	rs5030870	0.00005
NM_001360016.2(G6PD):c.697G>A (p.Val233Ile)	rs781948754	0.00005
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)	rs5030869	0.00003
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe)	rs137852342	0.00003
NM_001360016.2(G6PD):c.864+5G>A	rs372876649	0.00003
NM_001360016.2(G6PD):c.220C>T (p.Arg74Cys)	rs781848254	0.00002
NM_001360016.2(G6PD):c.754G>A (p.Glu252Lys)	rs782216807	0.00002
NM_001360016.2(G6PD):c.242G>A (p.Arg81His)	rs782308266	0.00001
NM_001360016.2(G6PD):c.251G>A (p.Ser84Asn)	rs141830127	0.00001
NM_001360016.2(G6PD):c.574C>T (p.Arg192Cys)	rs1557230370	0.00001
NM_001360016.2(G6PD):c.660C>G (p.Ile220Met)	rs782771682	0.00001
NM_001360016.2(G6PD):c.775G>A (p.Val259Met)	rs782690505	0.00001
NM_001360016.2(G6PD):c.973G>A (p.Asp325Asn)	rs781906610	0.00001
G6PD NARA	rs587776730
NC_000023.10:g.(?_153760215)_(153764413_?)dup
NC_000023.11:g.154534338dup	rs2148330517
NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu)	rs137852320
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro)	rs137852337
NM_001360016.2(G6PD):c.*357G>A
NM_001360016.2(G6PD):c.1016C>T (p.Ala339Val)
NM_001360016.2(G6PD):c.1072T>G (p.Cys358Gly)
NM_001360016.2(G6PD):c.1096A>G (p.Lys366Glu)	rs1057518975
NM_001360016.2(G6PD):c.1104G>C (p.Glu368Asp)	rs1421656710
NM_001360016.2(G6PD):c.1132G>A (p.Gly378Ser)
NM_001360016.2(G6PD):c.1146C>G (p.His382Gln)
NM_001360016.2(G6PD):c.1187C>T (p.Pro396Leu)	rs1557229683
NM_001360016.2(G6PD):c.1243C>T (p.Pro415Ser)	rs1603411292
NM_001360016.2(G6PD):c.1277A>G (p.Asn426Ser)
NM_001360016.2(G6PD):c.1278C>G (p.Asn426Lys)	rs1557229652
NM_001360016.2(G6PD):c.1311= (p.Tyr437=)	rs2230037
NM_001360016.2(G6PD):c.1330G>A (p.Val444Ile)
NM_001360016.2(G6PD):c.1365C>T (p.Ser455=)
NM_001360016.2(G6PD):c.1396A>G (p.Thr466Ala)
NM_001360016.2(G6PD):c.1412A>C (p.Gln471Pro)
NM_001360016.2(G6PD):c.1420C>G (p.Leu474Val)	rs2148328385
NM_001360016.2(G6PD):c.1441C>G (p.Pro481Ala)	rs202122673
NM_001360016.2(G6PD):c.1441C>T (p.Pro481Ser)
NM_001360016.2(G6PD):c.1457+37_1458-10dup
NM_001360016.2(G6PD):c.1487T>G (p.Met496Arg)
NM_001360016.2(G6PD):c.1496T>A (p.Val499Glu)
NM_001360016.2(G6PD):c.1517C>G (p.Thr506Ser)
NM_001360016.2(G6PD):c.152C>T (p.Thr51Ile)	rs2148332084
NM_001360016.2(G6PD):c.159-3C>T
NM_001360016.2(G6PD):c.169C>T (p.Arg57Trp)
NM_001360016.2(G6PD):c.193A>G (p.Thr65Ala)	rs199474830
NM_001360016.2(G6PD):c.196T>A (p.Phe66Ile)	rs2070404146
NM_001360016.2(G6PD):c.197T>A (p.Phe66Tyr)
NM_001360016.2(G6PD):c.221G>A (p.Arg74His)
NM_001360016.2(G6PD):c.227C>T (p.Thr76Ile)	rs2148331887
NM_001360016.2(G6PD):c.255G>A (p.Glu85=)
NM_001360016.2(G6PD):c.261C>T (p.Phe87=)
NM_001360016.2(G6PD):c.277G>A (p.Glu93Lys)
NM_001360016.2(G6PD):c.310C>T (p.Arg104Cys)
NM_001360016.2(G6PD):c.314A>C (p.Asn105Thr)
NM_001360016.2(G6PD):c.317C>T (p.Ser106Phe)
NM_001360016.2(G6PD):c.332A>G (p.Gln111Arg)
NM_001360016.2(G6PD):c.346G>C (p.Ala116Pro)
NM_001360016.2(G6PD):c.347C>T (p.Ala116Val)
NM_001360016.2(G6PD):c.359G>T (p.Arg120Leu)	rs782820967
NM_001360016.2(G6PD):c.376A>T (p.Asn126Tyr)	rs1050829
NM_001360016.2(G6PD):c.424T>G (p.Leu142Val)
NM_001360016.2(G6PD):c.433A>T (p.Thr145Ser)
NM_001360016.2(G6PD):c.445G>A (p.Ala149Thr)
NM_001360016.2(G6PD):c.472T>G (p.Cys158Gly)
NM_001360016.2(G6PD):c.485+3A>G
NM_001360016.2(G6PD):c.486-10C>T
NM_001360016.2(G6PD):c.486-34del	rs3216174
NM_001360016.2(G6PD):c.499A>T (p.Ile167Phe)
NM_001360016.2(G6PD):c.505G>A (p.Val169Met)
NM_001360016.2(G6PD):c.545G>A (p.Arg182Gln)
NM_001360016.2(G6PD):c.553A>C (p.Asn185His)
NM_001360016.2(G6PD):c.554A>G (p.Asn185Ser)
NM_001360016.2(G6PD):c.559A>G (p.Ile187Val)
NM_001360016.2(G6PD):c.575G>A (p.Arg192His)
NM_001360016.2(G6PD):c.584A>G (p.Gln195Arg)
NM_001360016.2(G6PD):c.595A>G (p.Ile199Val)
NM_001360016.2(G6PD):c.634A>G (p.Met212Val)
NM_001360016.2(G6PD):c.644+6G>A
NM_001360016.2(G6PD):c.645-3C>T
NM_001360016.2(G6PD):c.701T>C (p.Ile234Thr)
NM_001360016.2(G6PD):c.769C>G (p.Arg257Gly)	rs2070375134
NM_001360016.2(G6PD):c.829G>T (p.Ala277Ser)	rs1557230050
NM_001360016.2(G6PD):c.857A>G (p.Asp286Gly)	rs2148329856
NM_001360016.2(G6PD):c.859G>A (p.Glu287Lys)	rs387906471
NM_001360016.2(G6PD):c.909_911del (p.Val304del)
NM_001360016.2(G6PD):c.937G>A (p.Asp313Asn)
NM_001360016.2(G6PD):c.945G>C (p.Glu315Asp)	rs2148329357
NM_001360016.2(G6PD):c.947G>A (p.Gly316Asp)
NM_001360016.2(G6PD):c.971A>G (p.Asp324Gly)
NM_001360016.2(G6PD):c.988C>T (p.Arg330Cys)
NM_001360016.2(G6PD):c.989G>A (p.Arg330His)
NM_001360016.2(G6PD):c.[202G>A;376A>G563C>T]
NM_001360016.2(G6PD):c.[202G>A;563C>T]
NM_001360016.2(G6PD):c.[311G>A;376A>G]
NM_001360016.2(G6PD):c.[376A>G;563C>T]

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