ClinVar Miner

List of variants in gene FANCI reported as likely benign for Fanconi anemia

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 50
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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=)
NM_001113378.2(FANCI):c.1479T>G (p.Leu493=)
NM_001113378.2(FANCI):c.1749T>C (p.Phe583=)
NM_001113378.2(FANCI):c.2104C>T (p.Leu702=)
NM_001113378.2(FANCI):c.2636+11C>G
NM_001113378.2(FANCI):c.3059-4C>T
NM_001113378.2(FANCI):c.3652-70_3652-69del
NM_001113378.2(FANCI):c.595T>C (p.Leu199=)
NM_001113378.2(FANCI):c.669+8T>C
NM_001113378.2(FANCI):c.705C>T (p.Ala235=)
NM_001113378.2(FANCI):c.819A>T (p.Leu273=)
NM_001113378.2(FANCI):c.883-9C>T
NM_001113378.2(FANCI):c.976-5T>C

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