List of variants studied for anemia by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

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Total variants: 19

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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_000518.5(HBB):c.118C>T (p.Gln40Ter)	rs11549407	0.00026
NM_001081.4(CUBN):c.6560C>T (p.Ser2187Leu)	rs143899993	0.00026
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp)	rs80358755	0.00021
NM_015506.3(MMACHC):c.364C>A (p.His122Asn)	rs372918203	0.00012
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter)	rs80358533	0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)	rs76645461	0.00001
NM_000059.4(BRCA2):c.4787del (p.Asn1596fs)	rs1593903422
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His)	rs28897743
NM_000617.3(SLC11A2):c.223G>A (p.Gly75Arg)	rs1592380743
NM_000975.5(RPL11):c.465_466del (p.His155fs)	rs1644530053
NM_003126.4(SPTA1):c.1619C>A (p.Thr540Asn)	rs755070607
NM_003126.4(SPTA1):c.5263C>G (p.His1755Asp)	rs377659326
NM_004629.2(FANCG):c.769C>G (p.Arg257Gly)	rs759314410
NM_015506.3(MMACHC):c.616del (p.Arg206fs)	rs1163462384
NM_018368.4(LMBRD1):c.88T>C (p.Trp30Arg)	rs1582168492

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