List of variants in gene FANCI reported as uncertain significance by Sema4, Sema4

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 37

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HGVS	dbSNP	gnomAD frequency
NM_001113378.2(FANCI):c.824T>C (p.Ile275Thr)	rs142906652	0.00071
NM_001113378.2(FANCI):c.3499T>G (p.Cys1167Gly)	rs61744917	0.00051
NM_001113378.2(FANCI):c.3896G>T (p.Arg1299Leu)	rs138663330	0.00038
NM_001113378.2(FANCI):c.1399G>A (p.Val467Ile)	rs199726965	0.00019
NM_001113378.2(FANCI):c.3419C>T (p.Thr1140Ile)	rs142969866	0.00019
NM_001113378.2(FANCI):c.3721G>A (p.Ala1241Thr)	rs140357734	0.00018
NM_001113378.2(FANCI):c.1856T>A (p.Leu619Gln)	rs151038616	0.00011
NM_001113378.2(FANCI):c.2890-13C>T	rs377269890	0.00010
NM_001113378.2(FANCI):c.850G>A (p.Glu284Lys)	rs368711186	0.00008
NM_001113378.2(FANCI):c.2507A>G (p.Asn836Ser)	rs933284199	0.00006
NM_001113378.2(FANCI):c.1564C>T (p.Arg522Trp)	rs371568506	0.00005
NM_001113378.2(FANCI):c.1727A>G (p.Asn576Ser)	rs573652425	0.00005
NM_001113378.2(FANCI):c.1904A>G (p.Tyr635Cys)	rs764435343	0.00004
NM_001113378.2(FANCI):c.2419A>G (p.Met807Val)	rs750348956	0.00004
NM_001113378.2(FANCI):c.1418T>G (p.Val473Gly)	rs200007225	0.00003
NM_001113378.2(FANCI):c.1699-11C>T	rs753750358	0.00003
NM_001113378.2(FANCI):c.2781T>G (p.Ile927Met)	rs771106622	0.00003
NM_001113378.2(FANCI):c.1017G>A (p.Lys339=)	rs72762644	0.00001
NM_001113378.2(FANCI):c.1148T>C (p.Val383Ala)	rs1012254525	0.00001
NM_001113378.2(FANCI):c.1420C>A (p.Leu474Ile)	rs746777753	0.00001
NM_001113378.2(FANCI):c.2292-6T>C	rs772352819	0.00001
NM_001113378.2(FANCI):c.2774C>T (p.Pro925Leu)	rs773438545	0.00001
NM_001113378.2(FANCI):c.3247A>G (p.Thr1083Ala)	rs886051513	0.00001
NM_001113378.2(FANCI):c.3562G>A (p.Gly1188Arg)	rs772739034	0.00001
NM_001113378.2(FANCI):c.3671A>C (p.Asn1224Thr)	rs780218001	0.00001
NM_001113378.2(FANCI):c.625G>C (p.Glu209Gln)	rs752707646	0.00001
NM_001113378.2(FANCI):c.976-6C>T	rs2053316788	0.00001
NM_001113378.2(FANCI):c.1273A>G (p.Ile425Val)	rs775228768
NM_001113378.2(FANCI):c.1444A>G (p.Thr482Ala)	rs1249221854
NM_001113378.2(FANCI):c.1525G>A (p.Val509Ile)	rs1011876937
NM_001113378.2(FANCI):c.2066AGGAGGAAGAGG[1] (p.Glu693_Glu696del)	rs878854176
NM_001113378.2(FANCI):c.2170-7C>G	rs759281018
NM_001113378.2(FANCI):c.3059-11C>T	rs2054667046
NM_001113378.2(FANCI):c.3272A>G (p.Gln1091Arg)	rs2054689057
NM_001113378.2(FANCI):c.3591+4A>T	rs774180579
NM_001113378.2(FANCI):c.898G>T (p.Asp300Tyr)	rs1567151740
NM_001113378.2(FANCI):c.998C>T (p.Ser333Leu)	rs761982725

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