List of variants reported as pathogenic for familial hemolytic anemia by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)	rs116100695	0.00270
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln)	rs113403872	0.00052
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)	rs5030868	0.00028
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)	rs5030869	0.00003
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)	rs76645461	0.00001
NM_000298.6(PKLR):c.1510C>T (p.Arg504Cys)
NM_001142864.4(PIEZO1):c.5289C>G (p.Tyr1763Ter)	rs72811487
NM_001353812.2(ATP11C):c.1666+2T>C	rs2148723294
NM_001355436.2(SPTB):c.189G>A (p.Trp63Ter)
NM_001355436.2(SPTB):c.2863C>T (p.Arg955Ter)	rs1555369657
NM_001360016.2(G6PD):c.1195del (p.Ala399fs)
NM_002049.4(GATA1):c.220+1G>A	rs1569499366
NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup)	rs757679761

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