ClinVar Miner

List of variants in gene NF1 reported as uncertain significance by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP
NM_000267.3(NF1):c.239A>C (p.Tyr80Ser) rs4795581
NM_000267.3(NF1):c.2410-12T>C rs876657932
NM_000267.3(NF1):c.3436G>A (p.Val1146Ile) rs201047812
NM_000267.3(NF1):c.3883A>G (p.Thr1295Ala) rs143836226
NM_000267.3(NF1):c.4561C>G (p.Leu1521Val) rs1555619011
NM_000267.3(NF1):c.4772+3A>G rs1417732851
NM_000267.3(NF1):c.4772G>T (p.Arg1591Met) rs1555619423
NM_000267.3(NF1):c.5418C>G (p.Ile1806Met) rs1555533607
NM_000267.3(NF1):c.5446G>A (p.Asp1816Asn) rs771597781
NM_000267.3(NF1):c.6098T>A (p.Met2033Lys) rs1555534665
NM_000267.3(NF1):c.6109A>G (p.Ile2037Val) rs201712827
NM_000267.3(NF1):c.6271G>A (p.Ala2091Thr) rs749672954
NM_000267.3(NF1):c.6554C>T (p.Thr2185Ile) rs1555534885
NM_000267.3(NF1):c.6858+10G>A rs767166725
NM_000267.3(NF1):c.7376A>G (p.His2459Arg) rs371151718
NM_000267.3(NF1):c.7925C>T (p.Ser2642Phe) rs786202579
NM_000267.3(NF1):c.8099A>G (p.Gln2700Arg) rs876657933
NM_000267.3(NF1):c.839T>C (p.Ile280Thr) rs1555608976
NM_000267.3(NF1):c.862G>A (p.Val288Met) rs755670651

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.