List of variants reported as uncertain significance for Fanconi anemia by Genome-Nilou Lab

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

Total variants: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)	rs139235751	0.00230
NM_004629.2(FANCG):c.722C>T (p.Pro241Leu)	rs201438531	0.00010
NM_000135.4(FANCA):c.1634G>T (p.Ser545Ile)	rs200922390	0.00007
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu)	rs145886270	0.00006
NM_000135.4(FANCA):c.4300G>A (p.Ala1434Thr)	rs374984587	0.00006
NM_004629.2(FANCG):c.-19G>A	rs762155734	0.00006
NM_000135.4(FANCA):c.2706C>G (p.Asp902Glu)	rs587778315	0.00004
NM_000135.4(FANCA):c.3184G>A (p.Gly1062Arg)	rs142379991	0.00003
NM_000135.4(FANCA):c.2123C>T (p.Thr708Met)	rs775960094	0.00002
NM_000135.4(FANCA):c.3697G>A (p.Ala1233Thr)	rs751899346	0.00001
NM_000135.4(FANCA):c.3809C>T (p.Ser1270Leu)	rs752800577	0.00001
NM_000135.4(FANCA):c.3949C>T (p.Arg1317Trp)	rs200215131	0.00001
NM_004629.2(FANCG):c.1076G>A (p.Arg359Lys)	rs755919340	0.00001
NM_000135.4(FANCA):c.1627C>T (p.Pro543Ser)	rs763074159
NM_000135.4(FANCA):c.2444C>G (p.Pro815Arg)	rs778009295
NM_000135.4(FANCA):c.843G>C (p.Leu281Phe)	rs2143581630
NM_000136.3(FANCC):c.509A>G (p.Asn170Ser)	rs749322338

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.