List of variants reported as likely benign for anemia due to erythrocyte enzyme disorder by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_000175.5(GPI):c.623T>C (p.Ile208Thr)	rs8191371	0.01437
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser)	rs138824667	0.00256
NM_000289.6(PFKM):c.1338G>A (p.Gly446=)	rs150378513	0.00243
NM_000289.6(PFKM):c.1339C>A (p.Gln447Lys)	rs145040928	0.00243
NM_000289.6(PFKM):c.2199-12A>G	rs202008060	0.00204
NM_000289.6(PFKM):c.702A>T (p.Pro234=)	rs138022863	0.00185
NM_000289.6(PFKM):c.1500+29C>T	rs138256599	0.00183
NM_001243177.4(ALDOA):c.648C>G (p.Leu216=)	rs112110009	0.00124
NM_000175.5(GPI):c.987C>T (p.Asn329=)	rs140676743	0.00123
NM_000365.6(TPI1):c.366C>T (p.Leu122=)	rs138131191	0.00081
NM_000175.5(GPI):c.1497C>T (p.Phe499=)	rs138799755	0.00023
NM_000289.6(PFKM):c.459C>T (p.Ser153=)	rs145519821	0.00021
NM_000289.6(PFKM):c.1501-15C>T	rs756212415	0.00008
NM_000289.6(PFKM):c.1212T>C (p.Ala404=)	rs1203272613	0.00005
NM_000289.6(PFKM):c.1063-18G>A	rs531023136	0.00004
NM_000365.6(TPI1):c.690C>T (p.Phe230=)	rs782267337	0.00004
NM_000365.6(TPI1):c.543+5C>G	rs782153322	0.00002
NM_000175.5(GPI):c.1063-13G>C
NM_000175.5(GPI):c.1143G>C (p.Gly381=)	rs1214297048
NM_000175.5(GPI):c.487-14A>G
NM_000175.5(GPI):c.603C>G (p.Pro201=)	rs1062480
NM_000175.5(GPI):c.751-5del	rs375313737
NM_000289.6(PFKM):c.1338_1339delinsAA (p.Gln447Lys)	rs1555206566
NM_000289.6(PFKM):c.150T>C (p.Phe50=)
NM_000365.6(TPI1):c.457+7C>G
NM_001243177.4(ALDOA):c.684T>C (p.Tyr228=)	rs1596813728
NM_001243177.4(ALDOA):c.966C>T (p.Ile322=)
NM_001354741.2(PFKM):c.-81+1966C>T
NM_001365304.2(LOC112694756):c.*1509-16C>T

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