List of variants reported as pathogenic for anemia by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 38

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HGVS	dbSNP	gnomAD frequency
NM_000402.4(G6PD):c.292G>A (p.Val98Met)	rs1050828	0.03616
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)	rs398124292	0.00093
NM_000518.5(HBB):c.118C>T (p.Gln40Ter)	rs11549407	0.00026
NM_005142.3(CBLIF):c.79+1G>A	rs147785187	0.00017
NM_001018115.3(FANCD2):c.2715+1G>A	rs201811817	0.00016
NM_000365.6(TPI1):c.315G>C (p.Glu105Asp)	rs121964845	0.00012
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter)	rs121918242	0.00011
NM_000518.5(HBB):c.93-21G>A	rs35004220	0.00009
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)	rs104886457	0.00007
NM_000518.5(HBB):c.92+6T>C	rs35724775	0.00007
NM_000289.6(PFKM):c.237+1G>A	rs202143236	0.00006
NM_000398.7(CYB5R3):c.757G>A (p.Val253Met)	rs144071404	0.00006
NM_000518.5(HBB):c.79G>A (p.Glu27Lys)	rs33950507	0.00006
NM_000518.5(HBB):c.92+1G>A	rs33971440	0.00005
NC_000011.10:g.5227172G>A	rs63751208	0.00003
NM_000518.5(HBB):c.315+1G>A	rs33945777	0.00003
NM_000517.6(HBA2):c.*92A>G	rs63750067	0.00002
NM_000518.5(HBB):c.20del (p.Glu7fs)	rs63749819	0.00002
NM_000059.4(BRCA2):c.631+2T>G	rs81002899	0.00001
NM_000518.5(HBB):c.92+5G>C	rs33915217	0.00001
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter)	rs754990692	0.00001
NM_004629.2(FANCG):c.85-2A>T	rs759590778	0.00001
NM_000135.4(FANCA):c.3348+1G>T
NM_000135.4(FANCA):c.987_990del (p.His330fs)	rs772359099
NM_000517.4(HBA2):c.427T>A (p.Ter143Lys)	rs41464951
NM_000517.6(HBA2):c.*94A>G	rs63751269
NM_000518.4(HBB):c.364G>C (p.Glu122Gln)	rs33946267
NM_000518.5(HBB):c.-138C>A	rs33944208
NM_000518.5(HBB):c.112del (p.Trp38fs)	rs63750532
NM_000518.5(HBB):c.135del (p.Phe46fs)	rs80356820
NM_000518.5(HBB):c.17_18del (p.Pro6fs)	rs34889882
NM_000518.5(HBB):c.27dup (p.Ser10fs)	rs35699606
NM_000518.5(HBB):c.47G>A (p.Trp16Ter)	rs63750783
NM_000518.5(HBB):c.93-22_95del	rs193922563
NM_001081.4(CUBN):c.6928_6934del (p.Glu2310fs)	rs757649673
NM_001113378.2(FANCI):c.849T>A (p.Tyr283Ter)	rs760412752
NM_003126.4(SPTA1):c.4339-99C>T	rs200830867
NM_004629.2(FANCG):c.637_643del (p.Tyr213fs)	rs587776640

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