List of variants reported as pathogenic for anemia, nonspherocytic hemolytic by Mendelics

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

Total variants: 29

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)	rs1050829	0.08672
NM_000402.4(G6PD):c.292G>A (p.Val98Met)	rs1050828	0.03616
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)	rs76723693	0.00154
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_000402.4(G6PD):c.770G>A (p.Arg257Gln)	rs137852328	0.00008
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_001360016.2(G6PD):c.406C>T (p.Arg136Cys)	rs979416826	0.00002
NM_001360016.2(G6PD):c.703C>T (p.Leu235Phe)	rs782757170	0.00002
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)	rs76645461	0.00001
NM_001360016.2(G6PD):c.242G>A (p.Arg81His)	rs782308266	0.00001
NM_001360016.2(G6PD):c.323T>A (p.Val108Glu)	rs1557230626	0.00001
NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro)	rs78365220	0.00001
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_001360016.2(G6PD):c.1143C>G (p.Phe381Leu)	rs2148328905
NM_001360016.2(G6PD):c.1192G>A (p.Glu398Lys)	rs137852325
NM_001360016.2(G6PD):c.1378G>T (p.Glu460Ter)	rs1603411214

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.