List of variants reported as pathogenic for anemia by Division of Human Genetics, Children's Hospital of Philadelphia

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Total variants: 6

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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_000518.5(HBB):c.20A>T (p.Glu7Val)	rs334	0.01298
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)	rs5030868	0.00028
NM_058216.3(RAD51C):c.706-2A>G	rs587780259	0.00002
NM_015506.3(MMACHC):c.270dup (p.Arg91Ter)	rs1553162786

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