ClinVar Miner

List of variants in gene NF1 reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val) rs201712827 0.00017
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile) rs201047812 0.00015
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala) rs143836226 0.00004
NM_001042492.3(NF1):c.4835+3A>G rs1417732851 0.00001
NM_001042492.3(NF1):c.5509G>A (p.Asp1837Asn) rs771597781 0.00001
NM_001042492.3(NF1):c.6334G>A (p.Ala2112Thr) rs749672954 0.00001
NM_001042492.3(NF1):c.7439A>G (p.His2480Arg) rs371151718 0.00001
NM_001042492.3(NF1):c.862G>A (p.Val288Met) rs755670651 0.00001
NM_001042492.3(NF1):c.239A>C (p.Tyr80Ser) rs4795581
NM_001042492.3(NF1):c.2410-12T>C rs876657932
NM_001042492.3(NF1):c.4624C>G (p.Leu1542Val) rs1555619011
NM_001042492.3(NF1):c.4835G>T (p.Arg1612Met) rs1555619423
NM_001042492.3(NF1):c.5481C>G (p.Ile1827Met) rs1555533607
NM_001042492.3(NF1):c.6161T>A (p.Met2054Lys) rs1555534665
NM_001042492.3(NF1):c.6617C>T (p.Thr2206Ile) rs1555534885
NM_001042492.3(NF1):c.6921+10G>A rs767166725
NM_001042492.3(NF1):c.7988C>T (p.Ser2663Phe) rs786202579
NM_001042492.3(NF1):c.8162A>G (p.Gln2721Arg) rs876657933
NM_001042492.3(NF1):c.839T>C (p.Ile280Thr) rs1555608976

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