List of variants reported as benign for anemia due to erythrocyte enzyme disorder by Illumina Laboratory Services, Illumina

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		ClinVar version:

Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_000375.3(UROS):c.-219C>A	rs4385801	0.41780
NM_000375.3(UROS):c.-185G>A	rs4256900	0.41165
NM_020897.3(HCN3):c.*1069C>T	rs8847	0.35054
NM_000298.6(PKLR):c.*267C>T	rs932972	0.35051
NM_000298.6(PKLR):c.1705C>A (p.Arg569=)	rs1052176	0.35034
NM_000289.5(PFKM):c.-112T>G	rs12306290	0.29895
NM_000289.6(PFKM):c.2334T>G (p.Ala778=)	rs8716	0.28514
NM_000289.6(PFKM):c.516C>T (p.Thr172=)	rs1049392	0.18973
NM_000289.6(PFKM):c.2093-14A>G	rs11168427	0.16418
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln)	rs2228500	0.16379
NM_001159287.1(TPI1):c.69A>G (p.Arg23=)	rs1800200	0.09809
NM_000365.6(TPI1):c.*420T>C	rs58194764	0.08694
NM_000289.6(PFKM):c.246G>A (p.Thr82=)	rs2228501	0.06196
NM_000365.6(TPI1):c.544-10C>G	rs115061797	0.02638
NM_000365.6(TPI1):c.631+13G>A	rs60115912	0.02344
NM_000289.6(PFKM):c.1342-14G>T	rs56117548	0.01990
NM_000289.6(PFKM):c.306C>T (p.Ala102=)	rs11552507	0.01954
NM_000365.6(TPI1):c.544-14G>A	rs72661109	0.01198
NM_000365.6(TPI1):c.*341C>T	rs1804544	0.01157
NM_000289.6(PFKM):c.*282C>T	rs8977	0.00906
NM_000365.6(TPI1):c.*39G>A	rs12692	0.00504
NM_000375.3(UROS):c.*37G>T	rs372132511	0.00489
NM_000365.6(TPI1):c.600G>A (p.Ala200=)	rs61747602	0.00452
NM_000375.3(UROS):c.338A>T (p.Asp113Val)	rs117926090	0.00376
NM_000365.6(TPI1):c.321T>C (p.Asp107=)	rs141972556	0.00104
NM_000375.3(UROS):c.-136C>T	rs539482783	0.00096
NM_000365.6(TPI1):c.*388C>T	rs540279409	0.00031
NM_000289.6(PFKM):c.*163G>A	rs370250637
NM_000298.6(PKLR):c.*13T>C	rs1052177
NM_000375.3(UROS):c.512T>G (p.Val171Gly)	rs17173752

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