List of variants reported as pathogenic for Fanconi anemia complementation group I

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Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_001113378.2(FANCI):c.3041G>A (p.Cys1014Tyr)	rs140404896	0.00011
NM_001113378.2(FANCI):c.1461T>A (p.Tyr487Ter)	rs769248873	0.00005
NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter)	rs121918164	0.00005
NM_001113378.2(FANCI):c.3622_3623del (p.Leu1208fs)	rs1491132258	0.00003
NM_001113378.2(FANCI):c.157+78G>A	rs963339667	0.00001
NM_001113378.2(FANCI):c.1840C>T (p.Arg614Ter)	rs551399966	0.00001
NM_001113378.2(FANCI):c.2422A>T (p.Lys808Ter)	rs375656231	0.00001
NM_001113378.2(FANCI):c.2509G>T (p.Glu837Ter)	rs748000458	0.00001
NM_001113378.2(FANCI):c.3006+3A>G	rs1294973649	0.00001
NM_001113378.2(FANCI):c.3058+1G>A	rs149464307	0.00001
NM_001113378.2(FANCI):c.1264G>C (p.Gly422Arg)	rs146040966
NM_001113378.2(FANCI):c.158-2A>G	rs762128147
NM_001113378.2(FANCI):c.2248T>C (p.Cys750Arg)	rs2054124504
NM_001113378.2(FANCI):c.2345_2346del (p.Leu781_Ser782insTer)	rs758062617
NM_001113378.2(FANCI):c.2572C>T (p.His858Tyr)	rs1361710673
NM_001113378.2(FANCI):c.2737C>T (p.Gln913Ter)	rs1359408831
NM_001113378.2(FANCI):c.2957_2969del (p.Val986fs)
NM_001113378.2(FANCI):c.2T>C (p.Met1Thr)	rs2052048258
NM_001113378.2(FANCI):c.3058+4A>G	rs2054616468
NM_001113378.2(FANCI):c.3184C>T (p.Gln1062Ter)
NM_001113378.2(FANCI):c.3350-88A>G	rs2054700381
NM_001113378.2(FANCI):c.3437_3455del (p.His1146fs)	rs2054707218
NM_001113378.2(FANCI):c.3492_3493delinsT (p.Lys1164fs)
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs)	rs758597713
NM_001113378.2(FANCI):c.3521C>T (p.Thr1174Ile)	rs757106031
NM_001113378.2(FANCI):c.3604G>C (p.Gly1202Arg)	rs747326740
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs)	rs770318990
NM_001113378.2(FANCI):c.3801_3804del (p.Ser1268fs)	rs2152017390
NM_001113378.2(FANCI):c.3854G>A (p.Arg1285Gln)	rs121918163
NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter)	rs551305056
NM_001113378.2(FANCI):c.3901dup (p.Asp1301fs)	rs2055186253
NM_001113378.2(FANCI):c.3925_*672del (p.Gly1309_Ter1329del)	rs2055264556
NM_001113378.2(FANCI):c.756-25_756-19del	rs2053061271
NM_001113378.2(FANCI):c.866T>C (p.Leu289Pro)	rs1210148997

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