List of variants reported as pathogenic for anemia by Genetic Services Laboratory, University of Chicago

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer)	rs747253294	0.00034
NM_000518.5(HBB):c.118C>T (p.Gln40Ter)	rs11549407	0.00026
NM_001113378.2(FANCI):c.1461T>A (p.Tyr487Ter)	rs769248873	0.00005
NM_000135.4(FANCA):c.2601+1G>T	rs1188581065	0.00001
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs)	rs397507552
NM_000135.4(FANCA):c.1340C>G (p.Ser447Ter)	rs149551759
NM_000135.4(FANCA):c.1A>G (p.Met1Val)	rs772751654
NM_000135.4(FANCA):c.2151+1G>A	rs1555548428
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter)	rs1555547474
NM_001018115.3(FANCD2):c.1201del (p.Arg401fs)	rs1553608812
NM_001029.5(RPS26):c.55C>T (p.Gln19Ter)	rs797045919
NM_001386140.1(MTTP):c.708_709del (p.His236fs)	rs1553926818
NM_024675.4(PALB2):c.757_758del (p.Leu253fs)	rs180177092
NM_182916.3(TRNT1):c.1252dup (p.Ser418fs)	rs876661298
NM_198253.3(TERT):c.2146G>A (p.Ala716Thr)	rs387907249
NM_198253.3(TERT):c.579_580delinsTT (p.Arg194Ter)	rs1554043041

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