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

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: 46

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HGVS	dbSNP	gnomAD frequency
NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe)	rs117125761	0.00708
NM_001113378.2(FANCI):c.976-13A>T	rs145864790	0.00501
NM_001113378.2(FANCI):c.1699-7C>A	rs28446881	0.00498
NM_001113378.2(FANCI):c.3103C>T (p.Leu1035=)	rs34462132	0.00456
NM_001113378.2(FANCI):c.1211T>C (p.Ile404Thr)	rs79080874	0.00400
NM_001113378.2(FANCI):c.2832A>C (p.Arg944Ser)	rs79685648	0.00388
NM_001113378.2(FANCI):c.1573A>G (p.Met525Val)	rs144908351	0.00282
NM_001113378.2(FANCI):c.2011A>G (p.Ile671Val)	rs139814895	0.00257
NM_001113378.2(FANCI):c.2604A>C (p.Glu868Asp)	rs118031800	0.00251
NM_001113378.2(FANCI):c.2997C>T (p.Ser999=)	rs138675752	0.00248
NM_001113378.2(FANCI):c.1179T>C (p.Tyr393=)	rs3743377	0.00228
NM_001113378.2(FANCI):c.3592-8T>C	rs185599057	0.00200
NM_001113378.2(FANCI):c.1893A>C (p.Leu631Phe)	rs118138806	0.00053
NM_001113378.2(FANCI):c.1992+10T>C	rs375345390	0.00036
NM_001113378.2(FANCI):c.2291+12C>G	rs369540539	0.00034
NM_001113378.2(FANCI):c.1822-18C>T	rs373603139	0.00026
NM_001113378.2(FANCI):c.1963G>A (p.Gly655Arg)	rs138026584	0.00019
NM_001113378.2(FANCI):c.3051C>T (p.Asn1017=)	rs768378979	0.00016
NM_001113378.2(FANCI):c.446-6T>G	rs377255054	0.00015
NM_001113378.2(FANCI):c.165C>T (p.Pro55=)	rs139039885	0.00009
NM_001113378.2(FANCI):c.669+14A>G	rs369804967	0.00008
NM_001113378.2(FANCI):c.1797T>C (p.Ala599=)	rs563218968	0.00006
NM_001113378.2(FANCI):c.2890-19G>A	rs758850736	0.00006
NM_001113378.2(FANCI):c.1263C>T (p.Leu421=)	rs376956791	0.00005
NM_001113378.2(FANCI):c.2946C>T (p.Ala982=)	rs762453164	0.00005
NM_001113378.2(FANCI):c.3007-7A>G	rs778906473	0.00005
NM_001113378.2(FANCI):c.534C>T (p.Thr178=)	rs754733731	0.00005
NM_001113378.2(FANCI):c.2334C>T (p.Tyr778=)	rs139857614	0.00004
NM_001113378.2(FANCI):c.993G>A (p.Lys331=)	rs146916445	0.00004
NM_001113378.2(FANCI):c.2349C>T (p.Asp783=)	rs768234660	0.00003
NM_001113378.2(FANCI):c.705C>T (p.Ala235=)	rs542117175	0.00003
NM_001113378.2(FANCI):c.1112+8G>C	rs761741904	0.00002
NM_001113378.2(FANCI):c.1513-16A>C	rs768296894	0.00002
NM_001113378.2(FANCI):c.1923G>A (p.Leu641=)	rs750462548	0.00002
NM_001113378.2(FANCI):c.976-5T>C	rs775680372	0.00002
NM_001113378.2(FANCI):c.3059-17T>A	rs778641563	0.00001
NM_001113378.2(FANCI):c.3592-16C>T	rs754610218	0.00001
NM_001113378.2(FANCI):c.3592-9G>A	rs200021557	0.00001
NM_001113378.2(FANCI):c.3652-9T>C	rs971308997	0.00001
NM_001113378.2(FANCI):c.1263C>A (p.Leu421=)	rs376956791
NM_001113378.2(FANCI):c.1699-17del	rs746745862
NM_001113378.2(FANCI):c.3537+19C>G	rs2054711237
NM_001113378.2(FANCI):c.3645C>T (p.Tyr1215=)	rs760364969
NM_001113378.2(FANCI):c.3652-10A>T	rs202231175
NM_001113378.2(FANCI):c.3720+14A>G	rs200012909
NM_001113378.2(FANCI):c.822C>T (p.His274=)	rs2053064054

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