List of variants reported as uncertain significance for Fanconi anemia complementation group C by Baylor Genetics

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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000136.3(FANCC):c.584A>T (p.Asp195Val)	rs1800365	0.00275
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro)	rs41281202	0.00236
NM_000136.3(FANCC):c.178G>A (p.Val60Ile)	rs138629441	0.00091
NM_000136.3(FANCC):c.1249G>A (p.Glu417Lys)	rs140687953	0.00010
NM_000136.3(FANCC):c.127G>A (p.Glu43Lys)	rs374836770	0.00003
NM_000136.3(FANCC):c.1363G>T (p.Ala455Ser)	rs730881724	0.00003
NM_000136.3(FANCC):c.1672G>T (p.Val558Phe)	rs758866109	0.00002
NM_000136.3(FANCC):c.1048A>G (p.Met350Val)	rs863224607	0.00001
NM_000136.3(FANCC):c.583G>C (p.Asp195His)	rs774140528	0.00001
NM_000136.3(FANCC):c.998T>C (p.Leu333Pro)	rs864622191	0.00001
NM_000136.3(FANCC):c.1329+115C>T	rs2071912393
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter)	rs370974124
NM_000136.3(FANCC):c.390A>T (p.Glu130Asp)	rs1419677503
NM_000136.3(FANCC):c.643C>T (p.Leu215Phe)	rs1269365165

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.