ClinVar Miner

List of variants in gene combination LOC111811965, MIR4733HG, NF1 reported as uncertain significance for Hereditary cancer-predisposing syndrome; Cardiovascular phenotype

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.17C>G (p.Pro6Arg) rs864622210 0.00001
NM_001042492.3(NF1):c.37G>A (p.Val13Met) rs1060500261 0.00001
NM_001042492.3(NF1):c.-2A>G rs876659342
NM_001042492.3(NF1):c.-2A>T rs876659342
NM_001042492.3(NF1):c.-4G>A
NM_001042492.3(NF1):c.13A>G (p.Arg5Gly) rs1598173775
NM_001042492.3(NF1):c.13A>T (p.Arg5Trp) rs1598173775
NM_001042492.3(NF1):c.17C>A (p.Pro6Gln)
NM_001042492.3(NF1):c.17C>T (p.Pro6Leu) rs864622210
NM_001042492.3(NF1):c.19G>A (p.Val7Met) rs1911552278
NM_001042492.3(NF1):c.35C>T (p.Ala12Val) rs1911554964
NM_001042492.3(NF1):c.37G>T (p.Val13Leu) rs1060500261
NM_001042492.3(NF1):c.38T>C (p.Val13Ala) rs1911556061
NM_001042492.3(NF1):c.40G>T (p.Val14Phe) rs2143145306
NM_001042492.3(NF1):c.44G>A (p.Ser15Asn) rs1598173852
NM_001042492.3(NF1):c.46C>G (p.Arg16Gly)
NM_001042492.3(NF1):c.46C>T (p.Arg16Cys) rs1057520334
NM_001042492.3(NF1):c.47G>C (p.Arg16Pro) rs1555594493
NM_001042492.3(NF1):c.4G>T (p.Ala2Ser) rs2143144232
NM_001042492.3(NF1):c.4_5delinsTT (p.Ala2Phe) rs1555594471
NM_001042492.3(NF1):c.50T>C (p.Phe17Ser) rs1911557433
NM_001042492.3(NF1):c.53A>G (p.Asp18Gly)
NM_001042492.3(NF1):c.55G>A (p.Glu19Lys) rs786203307
NM_001042492.3(NF1):c.58C>G (p.Gln20Glu) rs1567786905
NM_001042492.3(NF1):c.59A>G (p.Gln20Arg) rs1598173901
NM_001042492.3(NF1):c.60+4A>G rs1911560774
NM_001042492.3(NF1):c.60+5C>T rs879413062
NM_001042492.3(NF1):c.60G>A (p.Gln20=)
NM_001042492.3(NF1):c.7G>A (p.Ala3Thr) rs1598173770
NM_001042492.3(NF1):c.8C>A (p.Ala3Glu)
NM_001042492.3(NF1):c.8C>T (p.Ala3Val) rs1911550821

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.