ClinVar Miner

List of variants in gene NFIB reported as uncertain significance for Macrocephaly, acquired, with impaired intellectual development

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001190737.2(NFIB):c.1217A>G (p.Tyr406Cys) rs750060639 0.00003
NM_001190737.2(NFIB):c.*98G>C rs2118462290
NM_001190737.2(NFIB):c.1136C>G (p.Ser379Trp) rs2119150843
NM_001190737.2(NFIB):c.1147T>C (p.Ser383Pro) rs2038781074
NM_001190737.2(NFIB):c.230T>G (p.Leu77Arg)
NM_001190737.2(NFIB):c.30+9C>G
NM_001190737.2(NFIB):c.328G>A (p.Asp110Asn)
NM_001190737.2(NFIB):c.386G>A (p.Arg129His) rs2060062099
NM_001190737.2(NFIB):c.416A>G (p.Lys139Arg) rs2132702460
NM_001190737.2(NFIB):c.550G>A (p.Val184Met)
NM_001190737.2(NFIB):c.594T>G (p.Asn198Lys) rs748665864
NM_001190737.2(NFIB):c.661T>A (p.Ser221Thr)
NM_001190737.2(NFIB):c.787_788del (p.Leu263fs) rs2042704405
NM_001190737.2(NFIB):c.799C>G (p.Pro267Ala)
NM_001190737.2(NFIB):c.86A>G (p.Tyr29Cys)
NM_001190737.2(NFIB):c.955C>G (p.Pro319Ala)
NM_001190738.2(NFIB):c.109-33576G>A rs2132874132

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.