ClinVar Miner

List of variants in gene FANCI reported as likely benign for anemia (disease)

Included ClinVar conditions (281):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 50
Download table as spreadsheet
HGVS dbSNP
NM_001113378.1(FANCI):c.1111A>G (p.Ser371Gly) rs149008055
NM_001113378.1(FANCI):c.1176A>T (p.Ser392=) rs201871288
NM_001113378.1(FANCI):c.1200T>C (p.Asp400=) rs763959132
NM_001113378.1(FANCI):c.1278G>T (p.Leu426=) rs1060504377
NM_001113378.1(FANCI):c.1294-9_1294-8insA rs1555445524
NM_001113378.1(FANCI):c.1491A>G (p.Gln497=) rs145349375
NM_001113378.1(FANCI):c.1573A>G (p.Met525Val) rs144908351
NM_001113378.1(FANCI):c.158G>C (p.Gly53Ala) rs149223439
NM_001113378.1(FANCI):c.1680G>A (p.Gln560=) rs1181466139
NM_001113378.1(FANCI):c.1704T>C (p.His568=) rs200990786
NM_001113378.1(FANCI):c.1813C>T (p.Leu605Phe) rs117125761
NM_001113378.1(FANCI):c.1822-7del rs1457763718
NM_001113378.1(FANCI):c.1939T>C (p.Leu647=) rs150231327
NM_001113378.1(FANCI):c.1963G>A (p.Gly655Arg) rs138026584
NM_001113378.1(FANCI):c.2023T>C (p.Leu675=) rs144800324
NM_001113378.1(FANCI):c.2097C>T (p.Tyr699=) rs148415946
NM_001113378.1(FANCI):c.2170-4T>C rs1167442446
NM_001113378.1(FANCI):c.2406T>C (p.Asp802=) rs147934193
NM_001113378.1(FANCI):c.2604A>C (p.Glu868Asp) rs118031800
NM_001113378.1(FANCI):c.2646A>G (p.Leu882=) rs199627578
NM_001113378.1(FANCI):c.2907A>C (p.Leu969Phe) rs568094959
NM_001113378.1(FANCI):c.2997C>T (p.Ser999=) rs138675752
NM_001113378.1(FANCI):c.3055C>T (p.Arg1019Trp) rs149167939
NM_001113378.1(FANCI):c.3103C>T (p.Leu1035=) rs34462132
NM_001113378.1(FANCI):c.3236C>T (p.Thr1079Met) rs191202700
NM_001113378.1(FANCI):c.3384G>A (p.Gln1128=) rs988319051
NM_001113378.1(FANCI):c.33A>G (p.Glu11=) rs878854180
NM_001113378.1(FANCI):c.3592-8T>C rs185599057
NM_001113378.1(FANCI):c.3652-10A>G rs202231175
NM_001113378.1(FANCI):c.3652-9T>C rs971308997
NM_001113378.1(FANCI):c.3834C>T (p.His1278=) rs1450412741
NM_001113378.1(FANCI):c.446-6T>G rs377255054
NM_001113378.1(FANCI):c.528A>G (p.Gln176=) rs145939211
NM_001113378.1(FANCI):c.670-8_670-6del rs747690719
NM_001113378.1(FANCI):c.753C>T (p.Asp251=) rs151169233
NM_001113378.1(FANCI):c.756-4T>G rs1332788738
NM_001113378.1(FANCI):c.993G>A (p.Lys331=) rs146916445
NM_001113378.2(FANCI):c.1398C>T (p.Ile466=) rs201002833
NM_001113378.2(FANCI):c.1479T>G (p.Leu493=) rs775006497
NM_001113378.2(FANCI):c.1749T>C (p.Phe583=) rs201037656
NM_001113378.2(FANCI):c.2104C>T (p.Leu702=) rs376376537
NM_001113378.2(FANCI):c.2636+11C>G rs1596307878
NM_001113378.2(FANCI):c.3059-4C>T rs747570773
NM_001113378.2(FANCI):c.3652-70_3652-69del rs11321073
NM_001113378.2(FANCI):c.595T>C (p.Leu199=) rs373954813
NM_001113378.2(FANCI):c.669+8T>C rs942269232
NM_001113378.2(FANCI):c.705C>T (p.Ala235=) rs542117175
NM_001113378.2(FANCI):c.819A>T (p.Leu273=) rs1596258380
NM_001113378.2(FANCI):c.883-9C>T rs563201817
NM_001113378.2(FANCI):c.976-5T>C rs775680372

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.