List of variants reported as pathogenic for anemia due to erythrocyte enzyme disorder by Invitae

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 85

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HGVS	dbSNP	gnomAD frequency
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_001360016.2(G6PD):c.1360C>T (p.Arg454Cys)	rs398123546	0.00014
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.185A>G (p.His62Arg)	rs137852340	0.00008
NM_000289.6(PFKM):c.237+1G>A	rs202143236	0.00006
NM_000289.6(PFKM):c.298C>T (p.Arg100Ter)	rs374547385	0.00004
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.298T>C (p.Tyr100His)	rs137852349	0.00002
NM_001360016.2(G6PD):c.209A>G (p.Tyr70Cys)	rs782090947	0.00002
NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys)	rs979416826	0.00002
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln)	rs187131358	0.00001
NM_000289.6(PFKM):c.1294C>T (p.Arg432Ter)	rs41291965	0.00001
NM_000289.6(PFKM):c.292C>T (p.Arg98Ter)	rs138893744	0.00001
NM_000402.4(G6PD):c.1451G>A (p.Arg484His)	rs137852324	0.00001
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_001360016.2(G6PD):c.1347G>C (p.Gln449His)	rs1557229572	0.00001
NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro)	rs78365220	0.00001
G6PD Amsterdam	rs2070404412
NC_000023.10:g.(?_152014869)_(154563736_?)del
NM_000289.6(PFKM):c.103dup (p.Arg35fs)
NM_000289.6(PFKM):c.1053del (p.Cys351fs)
NM_000289.6(PFKM):c.1057C>T (p.Gln353Ter)
NM_000289.6(PFKM):c.1091del (p.Glu364fs)
NM_000289.6(PFKM):c.1159del (p.Leu387fs)
NM_000289.6(PFKM):c.115C>T (p.Arg39Ter)	rs1064795749
NM_000289.6(PFKM):c.116G>C (p.Arg39Pro)	rs121918193
NM_000289.6(PFKM):c.1321G>T (p.Glu441Ter)
NM_000289.6(PFKM):c.1338del (p.Gln447fs)	rs2135995131
NM_000289.6(PFKM):c.1344_1345insAA (p.Glu449fs)
NM_000289.6(PFKM):c.1413-64A>G	rs1202417178
NM_000289.6(PFKM):c.1426A>T (p.Lys476Ter)
NM_000289.6(PFKM):c.1458dup (p.Lys487Ter)
NM_000289.6(PFKM):c.1607del (p.Gly535_Ser536insTer)	rs866260025
NM_000289.6(PFKM):c.1656del (p.Cys553fs)
NM_000289.6(PFKM):c.165T>A (p.Tyr55Ter)	rs2135856711
NM_000289.6(PFKM):c.1704del (p.Phe568fs)	rs2136019667
NM_000289.6(PFKM):c.1761del (p.Ala588fs)	rs2136020407
NM_000289.6(PFKM):c.1807C>T (p.Arg603Ter)
NM_000289.6(PFKM):c.1827del (p.Glu610fs)
NM_000289.6(PFKM):c.1828_1834del (p.Glu610fs)
NM_000289.6(PFKM):c.1929_1933del (p.Leu643_Tyr644insTer)	rs1592818641
NM_000289.6(PFKM):c.2003del (p.Pro668fs)	rs767095759
NM_000289.6(PFKM):c.2075_2076del (p.Lys692fs)	rs2136049056
NM_000289.6(PFKM):c.2080_2081del (p.Ser694fs)	rs1233958453
NM_000289.6(PFKM):c.21dup (p.Ala8fs)
NM_000289.6(PFKM):c.237+1G>C	rs202143236
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter)	rs121918195
NM_000289.6(PFKM):c.290del (p.Gly97fs)
NM_000289.6(PFKM):c.381_385dup (p.Arg129fs)	rs2135886253
NM_000289.6(PFKM):c.589C>T (p.Gln197Ter)
NM_000289.6(PFKM):c.646dup (p.Ala216fs)	rs2135915377
NM_000289.6(PFKM):c.736C>T (p.Arg246Ter)	rs866904446
NM_000289.6(PFKM):c.74del (p.Gly25fs)	rs2137862074
NM_000289.6(PFKM):c.780_783del (p.Ile260fs)
NM_000289.6(PFKM):c.874del (p.Arg292fs)	rs1369841345
NM_000402.4(G6PD):c.1147C>T (p.Pro383Ser)	rs137852333
NM_000402.4(G6PD):c.1192G>A (p.Glu398Lys)	rs387906468
NM_000402.4(G6PD):c.1249C>T (p.Arg417Cys)	rs137852334
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.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.683G>A (p.Arg228His)	rs137852332
NM_001243177.4(ALDOA):c.1001C>T (p.Ala334Val)	rs2151019295
NM_001243177.4(ALDOA):c.349_361del (p.Leu117fs)
NM_001360016.2(G6PD):c.130G>A (p.Ala44Thr)
NM_001360016.2(G6PD):c.1354_1358del (p.Phe452fs)
NM_001360016.2(G6PD):c.241C>T (p.Arg81Cys)
NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg)	rs78365220
NM_001360016.2(G6PD):c.404A>C (p.Asn135Thr)	rs782322505
NM_001360016.2(G6PD):c.463C>G (p.His155Asp)
NM_001360016.2(G6PD):c.497G>A (p.Arg166His)
NM_001360016.2(G6PD):c.519C>G (p.Phe173Leu)
NM_001360016.2(G6PD):c.835A>T (p.Thr279Ser)	rs2148329890

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