ClinVar Miner

List of variants in gene NF1 reported as likely pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.1062+3A>G rs1057521098
NM_001042492.3(NF1):c.1408G>T (p.Glu470Ter) rs1597698330
NM_001042492.3(NF1):c.1884del (p.Phe627_Tyr628insTer) rs2066990429
NM_001042492.3(NF1):c.2002-14C>G
NM_001042492.3(NF1):c.2099del (p.Thr700fs)
NM_001042492.3(NF1):c.2331G>A (p.Trp777Ter) rs1555613983
NM_001042492.3(NF1):c.2764G>A (p.Gly922Ser) rs1135402831
NM_001042492.3(NF1):c.2990+5G>A rs1555614464
NM_001042492.3(NF1):c.3315-2A>C rs1555614914
NM_001042492.3(NF1):c.3329_3332del (p.Leu1109_Phe1110insTer) rs2067134264
NM_001042492.3(NF1):c.3432T>A (p.Cys1144Ter) rs2067136971
NM_001042492.3(NF1):c.3892C>T (p.Gln1298Ter) rs2067193761
NM_001042492.3(NF1):c.4720_4724del (p.Thr1574fs) rs2067692232
NM_001042492.3(NF1):c.4910del (p.Lys1637fs)
NM_001042492.3(NF1):c.5129del (p.Asp1710fs) rs2069334590
NM_001042492.3(NF1):c.5376C>A (p.Cys1792Ter) rs1597832002
NM_001042492.3(NF1):c.5609+5G>T rs1597832498
NM_001042492.3(NF1):c.5662del (p.Ile1888fs) rs2069449497
NM_001042492.3(NF1):c.7321+1G>T rs1135402903
NM_001042492.3(NF1):c.7846C>T (p.Gln2616Ter) rs1555536713

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