List of variants reported as pathogenic for anemia by Lifecell International Pvt. Ltd

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000402.4(G6PD):c.934G>C (p.Asp312His)	rs137852318	0.00072
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)	rs5030868	0.00028
NM_000402.4(G6PD):c.961G>A (p.Val321Met)	rs137852327	0.00010
NM_000518.5(HBB):c.79G>A (p.Glu27Lys)	rs33950507	0.00006
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)	rs137852339	0.00004
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)	rs5030869	0.00003
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys)	rs137852330	0.00003
NM_000518.5(HBB):c.51del (p.Lys18fs)	rs35662066	0.00003
NM_000518.5(HBB):c.92+5G>C	rs33915217	0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)	rs121918241	0.00001
NM_000135.4(FANCA):c.3761_3762del (p.Glu1254fs)	rs868273545
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly)	rs78478128
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)	rs137852314
NM_000518.5(HBB):c.126_129del (p.Phe42fs)	rs80356821
NM_000518.5(HBB):c.27dup (p.Ser10fs)	rs35699606

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