ClinVar Miner

List of variants reported as likely benign for Fanconi anemia complementation group N

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024675.4(PALB2):c.925A>G (p.Ile309Val) rs3809683 0.00919
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg) rs138789658 0.00530
NM_024675.4(PALB2):c.2794G>A (p.Val932Met) rs45624036 0.00449
NM_024675.4(PALB2):c.1572A>G (p.Ser524=) rs45472400 0.00312
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser) rs45568339 0.00287
NM_024675.4(PALB2):c.2742C>T (p.Phe914=) rs115759702 0.00143
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_024675.4(PALB2):c.3495G>A (p.Ser1165=) rs45439097 0.00121
NM_024675.4(PALB2):c.1194G>A (p.Val398=) rs61755173 0.00103
NM_024675.4(PALB2):c.909C>T (p.Leu303=) rs145788619 0.00101
NM_024675.4(PALB2):c.1470C>T (p.Pro490=) rs45612837 0.00035
NM_024675.4(PALB2):c.1000T>G (p.Tyr334Asp) rs202241382 0.00026
NM_024675.4(PALB2):c.1492G>T (p.Asp498Tyr) rs75023630 0.00020
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val) rs141458731 0.00017
NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp) rs183489969 0.00016
NM_024675.4(PALB2):c.2881C>T (p.Leu961=) rs61755166 0.00001

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.