List of variants reported as pathogenic for congenital nonspherocytic hemolytic anemia by Fulgent Genetics, Fulgent Genetics

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)	rs116100695	0.00270
NM_000402.4(G6PD):c.934G>C (p.Asp312His)	rs137852318	0.00072
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.1093G>A (p.Ala365Thr)	rs5030869	0.00003
NM_000298.6(PKLR):c.721G>T (p.Glu241Ter)	rs201953584	0.00002
NM_000402.4(G6PD):c.482G>T (p.Gly161Val)	rs137852341
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)	rs137852314
NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter)	rs886128077

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