List of variants in gene FANCA reported as likely benign by Natera, Inc.

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: 40

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000135.4(FANCA):c.2222+73A>G	rs1800341	0.06356
NM_000135.4(FANCA):c.3513+62C>T	rs34019730	0.05570
NM_000135.4(FANCA):c.903G>T (p.Val301=)	rs56062548	0.00432
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu)	rs45441106	0.00341
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu)	rs144420697	0.00325
NM_000135.4(FANCA):c.1830A>G (p.Ala610=)	rs1800338	0.00201
NM_000135.4(FANCA):c.237C>T (p.Asp79=)	rs144151341	0.00089
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=)	rs1800346	0.00053
NM_000135.4(FANCA):c.3348+7G>T	rs185527578	0.00016
NM_000135.4(FANCA):c.688G>A (p.Val230Ile)	rs144560850	0.00016
NM_000135.4(FANCA):c.1413C>T (p.Val471=)	rs201561753	0.00015
NM_000135.4(FANCA):c.1614G>A (p.Gly538=)	rs747421581	0.00010
NM_000135.4(FANCA):c.1755C>G (p.Pro585=)	rs144704750	0.00010
NM_000135.4(FANCA):c.3711C>G (p.Val1237=)	rs776879032	0.00010
NM_000135.4(FANCA):c.634A>C (p.Arg212=)	rs754839730	0.00010
NM_000135.4(FANCA):c.3114C>T (p.Leu1038=)	rs55758861	0.00009
NM_000135.4(FANCA):c.3138C>T (p.His1046=)	rs150884376	0.00009
NM_000135.4(FANCA):c.2981+4dup	rs75004096	0.00007
NM_000135.4(FANCA):c.1734C>T (p.Tyr578=)	rs762647468	0.00006
NM_000135.4(FANCA):c.1901-10C>T	rs766654290	0.00006
NM_000135.4(FANCA):c.1008A>G (p.Ala336=)	rs1460026241	0.00004
NM_000135.4(FANCA):c.2088C>T (p.Ser696=)	rs150917432	0.00004
NM_000135.4(FANCA):c.1209G>A (p.Ala403=)	rs773318145	0.00003
NM_000135.4(FANCA):c.2958C>T (p.Asn986=)	rs368953287	0.00003
NM_000135.4(FANCA):c.1969C>T (p.Leu657=)	rs889618840	0.00002
NM_000135.4(FANCA):c.3429G>A (p.Leu1143=)	rs146062039	0.00002
NM_000135.4(FANCA):c.837C>T (p.Asp279=)	rs752311383	0.00002
NM_000135.4(FANCA):c.1632C>A (p.His544Gln)	rs553129361	0.00001
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=)	rs529199293	0.00001
NM_000135.4(FANCA):c.1776+10C>T	rs767506133	0.00001
NM_000135.4(FANCA):c.3087G>A (p.Glu1029=)	rs35402142	0.00001
NM_000135.4(FANCA):c.3483G>A (p.Thr1161=)	rs768306527	0.00001
NM_000135.4(FANCA):c.90C>G (p.Val30=)	rs532713581	0.00001
NM_000135.4(FANCA):c.1123T>C (p.Leu375=)	rs2040093515
NM_000135.4(FANCA):c.1986C>A (p.Ala662=)	rs568935135
NM_000135.4(FANCA):c.255C>A (p.Ala85=)	rs780353222
NM_000135.4(FANCA):c.3727A>C (p.Arg1243=)	rs1051421921
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg)	rs139160837
NM_000135.4(FANCA):c.402T>C (p.Pro134=)	rs745666586
NM_000135.4(FANCA):c.826+10T>C	rs536052530

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.